Items where Subject is "QH426 Genetics"

2022

Cogan, Joseph (2022) Integrated genome-scale discovery of the SFPQ-DNA and -RNA regulatory interactome and its output in cancer biology. Masters thesis, University of Huddersfield.

Yau, Bobby (2022) ARCHAEOGENETICS OF THE GREAT LAKES REGION OF NORTH AMERICA. Doctoral thesis, University of Huddersfield.

2021

Foody, M. George B. (2021) Genetic Impact of the Bronze Age at the Fringes of Europe. Doctoral thesis, University of Huddersfield.

Ginés Rivas, Juan José (2021) Codon Usage Evolution in Opisthokonta. Doctoral thesis, University of Huddersfield.

Raval, Rohan (2021) Ecological and population genomics of the wild yellow-necked mouse, Apodemus flavicollis. Doctoral thesis, University of Huddersfield.

2020

Dawson, Holly (2020) The Early Evolution of tRNA Modification in Eukaryotes. Masters thesis, University of Huddersfield.

Dodds, Kristian (2020) Compartmentalisation of Mevalonate Biosynthesis in Evolutionarily Divergent Eukaryotes. Masters thesis, University of Huddersfield.

Oram, Amanda (2020) Differentiation of Human Induced Pluripotent Stem Cells from Patients with Autosomal Recessive Congenital Ichthyosis and Analysis of Gene Expression Patterns. Masters thesis, University of Huddersfield.

Oteo-Garcia, Gonzalo (2020) Archaeogenetics of Southwest Europe. Doctoral thesis, University of Huddersfield.

Southworth, Jade (2020) Comparative Genomics and the Evolution of Transposable Elements in Unicellular Eukaryotes. Doctoral thesis, University of Huddersfield.

2019

Al-Rajab, Murad Mustafa Jaber (2019) EFFICIENT ALGORITHMS FOR CANCER GENE SEARCHING AND CLASSIFICATION:COLON CANCER. Doctoral thesis, University of Huddersfield.

Armitage, Paul (2019) The choanoflagellate translational machinery. Masters thesis, University of Huddersfield.

Asaghiar, Fisal E. (2019) Application of forensic RNA analysis as a method for body fluid stain age prediction. Doctoral thesis, University of Huddersfield.

Buj, David (2019) KLOTHO PROTEINS KLO-1 AND KLO-2 INTERACT WITH DAF-2/DAF-16 PATHWAY TO REGULATE ENERGY METABOLISM, STRESS RESISTANCE AND AGEING. Doctoral thesis, University of Huddersfield.

Dulias, Katharina (2019) ARCHAEOGENETICS AND PALAEOGENETICS OF THE BRITISH ISLES. Doctoral thesis, University of Huddersfield.

Madour, Ali M. (2019) Characterisation of Mitochondrial DNA and Y-STR Variation in the Libyan Population. Doctoral thesis, University of Huddersfield.

Martin Cerezo, Maria Luisa (2019) European phylogeography and genetic structure of wood and yellow-necked mice Apodemus sylvaticus and Apodemus flavicollis based on whole-genome, high-density genotyping by restriction-site-associated DNA sequencing (RAD-seq). Doctoral thesis, University of Huddersfield.

da Silva, Marina Soares (2019) Archaeogenetics of two subcontinents:the transition to Metal Ages in South Asia and Southwest Europe. Doctoral thesis, University of Huddersfield.

2018

Brandini, Stefania, Bergamaschi, Paola, Cerna, Marco Fernando, Gandini, Francesca, Bastaroli, Francesca, Bertolini, Emilie, Cereda, Cristina, Ferretti, Luca, Gómez-Carballa, Alberto, Battaglia, Vincenza, Salas, Antonio, Semino, Ornella, Achilli, Alessandro, Olivieri, Anna and Torroni, Antonio (2018) The Paleo-Indian Entry into South America According to Mitogenomes. Molecular Biology and Evolution, 35 (2). pp. 299-311. ISSN 0737-4038

Shoeib, Tarek (2018) Investigating the modern human settlement of Mainland Southeast Asia using mitochondrial DNA. Doctoral thesis, University of Huddersfield.

2017

Ammann, Sandra, Lehmberg, Kai, zur Stadt, Udo, Klemann, Christian, Bode, Sebastian F. N., Speckmann, Carsten, Janka, Gritta, Wustrau, Katharina, Rakhmanov, Mirzokhid, Fuchs, Ilka, Hennies, Hans C. and Ehl, Stephan (2017) Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. Journal of Clinical Immunology. ISSN 0271-9142

Bryk, Jarek (2017) Evolution in action: pathogens. Science in Schools (42). pp. 8-13. ISSN 1818-0353

Bryk, Jarek (2017) Evolution in action: the 67 000-generation experiment. Science in Schools (41). pp. 24-29. ISSN 1818-0353

Carr, Martin, Richter, Daniel J., Fozouni, Parinaz, Smith, Timothy J., Jeuck, Alexandra, Leadbeater, Barry S.C. and Nitsche, Frank (2017) A six-gene phylogeny provides new insights into choanoflagellate evolution. Molecular Phylogenetics and Evolution, 107. pp. 166-178. ISSN 10557903

Colominas, Lídia and Edwards, Ceiridwen J. (2017) Livestock trade during the Roman period: first clues from the trading post of Empúries (Catalonia). International Journal of Osteoarchaeology, 27 (2). pp. 167-179. ISSN 1047482X

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K.M., Schupart, R., Nürnberg, P., Zschocke, J., Schmuth, M., Volc-Platzer, B. and Hennies, Hans C. (2017) Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. British Journal of Dermatology, 176 (4). pp. 1068-1073. ISSN 0007-0963

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Espirito-Santo, Ana, Izadi, David, Hennies, Hans C., Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017) A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. American Journal of Human Genetics, 101 (3). pp. 417-427. ISSN 1537-6605

Oji, V., Preil, M.L., Kleinow, B., Wehr, G., Fischer, J., Hennies, Hans C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva- Poór, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-Ortiz, A.M., Zaraeva, I., Diem, A., Giehl, K., Fölster-Holst, R., Kiekbusch, K., Höger, P., Ott, H. and Traupe, H. (2017) S1 guidelines for the diagnosis and treatment of ichthyoses – update. Journal der Deutschen Dermatologischen Gesellschaft, 15 (10). pp. 1053-1065. ISSN 1610-0379

Olivieri, Anna, Sidore, Carlo, Achilli, Alessandro, Angius, Andrea, Posth, Cosimo, Furtwängler, Anja, Brandini, Stefania, Capodiferro, Marco Rosario, Gandini, Francesca, Zoledziewska, Magdalena, Pitzalis, Maristella, Maschio, Andrea, Busonero, Fabio, Lai, Luca, Skeates, Robin, Gradoli, Maria Giuseppina, Beckett, Jessica, Marongiu, Michele, Mazzarello, Vittorio, Marongiu, Patrizia, Rubino, Salvatore, Rito, Teresa, Macaulay, Vincent, Semino, Ornella, Pala, Maria, Abecasis, Gonçalo R., Schlessinger, David, Conde-Sousa, Eduardo, Soares, Pedro, Richards, Martin B., Cucca, Francesco and Torroni, Antonio (2017) Mitogenome diversity in Sardinians: a genetic window onto an island's past. Molecular Biology and Evolution, 34 (5). pp. 1230-1239. ISSN 0737-4038

Sahakyan, Hovhannes et al. (2017) Origin and spread of human mitochondrial DNA haplogroup U7. Scientific Reports, 7. p. 46044. ISSN 2045-2322

Silva, Marina, Oliveira, Marisa, Vieira, Daniel, Brandão, Andreia, Rito, Teresa, Pereira, Joana B., Fraser, Ross M., Hudson, Bob, Gandini, Francesca, Edwards, Ceiridwen J., Pala, Maria, Koch, John, Wilson, James F., Pereira, Luísa, Richards, Martin B. and Soares, Pedro (2017) A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals. BMC Evolutionary Biology, 17 (1). ISSN 1471-2148

Warren, Alan et al. (2017) Beyond the “Code”: A Guide to the Description and Documentation of Biodiversity in Ciliated Protists (Alveolata, Ciliophora). Journal of Eukaryotic Microbiology, 64 (4). pp. 539-554. ISSN 10665234

2016

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Becker, K., Siegert, S., Toliat, M.R., Du, J., Casper, R., Dolmans, G.H., Werker, P.M., Tinschert, S., Franke, A., Gieger, C., Strauch, K., Nothnagel, M., Nürnberg, P. and Hennies, Hans C. (2016) Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease. PLoS ONE. ISSN 1932-6203

Brandão, Andreia, Eng, Khen Khong, Rito, Teresa, Cavadas, Bruno, Bulbeck, David, Gandini, Francesca, Pala, Maria, Mormina, Maru, Hudson, Bob, White, Joyce, Ko, Tsang-Ming, Saidin, Mokhtar, Zafarina, Zainuddin, Oppenheimer, Stephen, Richards, Martin B., Pereira, Luísa and Soares, Pedro (2016) Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia. Human Genetics, 135 (4). pp. 363-376. ISSN 0340-6717

Ceriaco, Luis M. P., Gutierrez, Eliecer E., Dubois, Alain and Carr, Martin (2016) Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences. Zootaxa, 4196 (3). pp. 435-445. ISSN 1175-5326

Gandini, Francesca, Achilli, Alessandro, Pala, Maria, Bodner, Martin, Brandini, Sefania, Huber, Gabriela, Egyed, Balazs, Ferretti, Luca, Gómez-Carballa, Alberto, Salas, Antonio, Scozzari, Rosaria, Cruciani, Fulvio, Coppa, Alfredo, Parson, Walther, Semino, Ornella, Soares, Pedro, Torroni, Antonio, Richards, Martin B. and Olivieri, Anna (2016) Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes. Scientific Reports, 6 (25472). ISSN 2045-2322

Kapferer-Seebacher, I. et al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American Journal of Human Genetics, 99. pp. 1-10. ISSN 1537-6605

Lazaridis, Iosif et al. (2016) Genomic insights into the origin of farming in the ancient Near East. Nature, 536 (7617). pp. 419-424. ISSN 00280836

Pala, Maria, Soares, Pedro and Richards, Martin B. (2016) Archaeogenetic and Palaeogenetic Evidence for Metal Age Mobility in Europe. In: Atlantic Europe in the Metal Ages — questions of shared language. Celtic from the West (3). Oxbow Books, pp. 321-344. ISBN 9781785702273

Richards, Martin B., Soares, Pedro and Torroni, Antonio (2016) Palaeogenomics: Mitogenomes and Migrations in Europe’s Past. Current Biology, 26 (6). R243-R246. ISSN 09609822

Soares, Pedro, Rito, Teresa, Pereira, Luísa and Richards, Martin B. (2016) A Genetic Perspective on African Prehistory. In: Africa from MIS 6-2. Vertebrate Paleobiology and Paleoanthropology, IV . Springer, London, UK, pp. 383-405. ISBN 978-94-017-7519-9

Soares, Pedro A., Trejaut, Jean A., Rito, Teresa, Cavadas, Bruno, Hill, Catherine, Eng, Ken Khong, Mormina, Maru, Brandão, Andreia, Fraser, Ross M., Wang, Tse-Yi, Loo, Jun-Hun, Snell, Christopher, Ko, Tsang-Ming, Amorim, António, Pala, Maria, Macaulay, Vincent, Bulbeck, David, Wilson, James F., Gusmão, Leonor, Pereira, Luísa, Oppenheimer, Stephen, Lin, Marie and Richards, Martin B. (2016) Resolving the ancestry of Austronesian-speaking populations. Human Genetics, 135 (3). pp. 309-326. ISSN 0340-6717

2015

Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rössler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H.G., Nick, H.E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P. and Hennies, Hans C. (2015) The importance of genetic susceptibility in Dupuytren's disease. Clinical Genetics, 87 (5). pp. 483-487. ISSN 0009-9163

Chaubey, Gyaneshwer, Fernandes, Verónica, Triska, Petr, Pereira, Joana B., Alshamali, Farida, Rito, Teresa, Machado, Alison, Fajkošová, Zuzana, Cavadas, Bruno, Černý, Viktor, Soares, Pedro, Richards, Martin B. and Pereira, Luísa (2015) Genetic Stratigraphy of Key Demographic Events in Arabia. PLoS ONE, 10 (3). e0118625. ISSN 1932-6203

Colli, Licia, Lancioni, Hovirag, Cardinali, Irene, Olivieri, Anna, Capodiferro, Marco Rosario, Pellecchia, Marco, Rzepus, Marcin, Zamani, Wahid, Naderi, Saeid, Gandini, Francesca, Vahidi, Seyed Mohammad Farhad, Agha, Saif, Randi, Ettore, Battaglia, Vincenza, Sardina, Maria Teresa, Portolano, Baldassare, Rezaei, Hamid Reza, Lymberakis, Petros, Boyer, Frédéric, Coissac, Eric, Pompanon, François, Taberlet, Pierre, Ajmone Marsan, Paolo and Achilli, Alessandro (2015) Whole mitochondrial genomes unveil the impact of domestication on goat matrilineal variability. BMC Genomics, 16. p. 1115. ISSN 1471-2164

Fredericks, Jamie D., Ringrose, Trevor J., Dicken, Anthony, Williams, Anna and Bennett, Phil (2015) A potential new diagnostic tool to aid DNA analysis from heat compromised bone using colorimetry: A preliminary study. Science and Justice, 55 (2). pp. 124-130. ISSN 1355-0306

Gomes, Verónica, Pala, Maria, Salas, Antonio, Álvarez-Iglesias, Vanesa, Amorim, António, Gómez-Carballa, Alberto, Carracedo, Ángel, Clarke, Douglas, Hill, Catherine, Mormina, Maru, Shaw, Marie-Anne, Dunne, David W., Pereira, Rui, Pereira, Vânia, Prata, Maria João, Sánchez-Diz, Paula, Rito, Teresa, Soares, Pedro, Gusmão, Leonor and Richards, Martin B. (2015) Mosaic maternal ancestry in the Great Lakes region of East Africa. Human Genetics, 134 (9). pp. 1013-1027. ISSN 0340-6717

Gruber, R., Börnchen, C., Rose, K., Daubmann, A., Volksdorf, T., Wladykowski, E., Vidal, Y.Sy S., Peters, E.M., Danso, M., Bouwstra, J.A., Hennies, Hans C., Moll, I., Schmuth, M. and Brandner, J.M. (2015) Diverse regulation of claudin-1 and claudin-4 in atopic dermatitis. American Journal of Physical Anthropology, 185 (10). pp. 2777-2789. ISSN 0002-9483

Gruber, R., Sugarman, J.L., Crumrine, D., Hupe, M., Mauro, T.M., Mauldin, E.A., Thyssen, J.P., Brandner, J.M., Hennies, Hans C., Schmuth, M. and Elias, P.M. (2015) Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency. The American Journal of Pathology, 185 (4). pp. 1012-1021. ISSN 0002-9440

Hennies, Hans C. (2015) All is balanced: inter-alpha-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiation. Experimental dermatology, 24 (9). pp. 661-662. ISSN 1600-0625

Montelli, S., Mazzotta, G., Vanin, Stefano, Caccin, L., Corra, S., De Pitta, C., Boothroyd, C., Green, E. W., Kyriacou, C. P. and Costa, R. (2015) Period and timeless mRNA Splicing Profiles under Natural Conditions in Drosophila melanogaster. Journal of Biological Rhythms, 30 (3). pp. 217-227. ISSN 0748-7304

Moosbrugger-Martinz, V., Jalili, A., Schossig, A.S., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K.M., Hennies, Hans C. and Gruber, R. (2015) Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. British Journal of Dermatology, 172 (6). pp. 1628-1632. ISSN 0007-0963

Olivieri, Anna, Gandini, Francesca, Achilli, Alessandro, Fichera, Alessandro, Rizzi, Ermanno, Bonfiglio, Silvia, Battaglia, Vincenza, Brandini, Stefania, De Gaetano, Anna, El-Beltagi, Ahmed, Lancioni, Hovirag, Agha, Saif, Semino, Ornella, Ferretti, Luca and Torroni, Antonio (2015) Mitogenomes from Egyptian Cattle Breeds: New Clues on the Origin of Haplogroup Q and the Early Spread of Bos taurus from the Near East. PLoS ONE, 10 (10). e0141170. ISSN 1932-6203

Pala, Maria, Soares, Pedro, Chaubey, Gyaneshwer and Richards, Martin B. (2015) Archaeogenetics. In: The Cambridge World History Volume 2. A World with Agriculture, 12,000 BCE–500 CE . Cambridge University Press, Cambridge, UK, pp. 26-54. ISBN 9780521192187

Park, Stephen D. E., Magee, David A., McGettigan, Paul A., Teasdale, Matthew D., Edwards, Ceiridwen J., Lohan, Amanda J., Murphy, Alison, Braud, Martin, Donoghue, Mark T., Liu, Yuan, Chamberlain, Andrew T., Rue-Albrecht, Kévin, Schroeder, Steven, Spillane, Charles, Tai, Shuaishuai, Bradley, Daniel G., Sonstegard, Tad S., Loftus, Brendan J. and MacHugh, David E. (2015) Genome sequencing of the extinct Eurasian wild aurochs, Bos primigenius, illuminates the phylogeography and evolution of cattle. Genome Biology, 16 (1). p. 234. ISSN 14656906

Rout, Simon, Rai, Anup and Humphreys, Paul (2015) Draft Genome Sequence of an Alkaliphilic Exiguobacterium sp Strain HUD, Isolated from a Polymicrobial Consortia. Genome Announcements, 36 (11). e01451-14. ISSN 2169-8287

Seifert, W., Kühnisch, J., Maritzen, T., Lommatzsch, S., Hennies, Hans C., Bachmann, S., Horn, D. and Haucke, V. (2015) Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. Journal of Biological Chemistry, 290 (6). pp. 3349-3358. ISSN 0021-9258

Stewart, Leander, Evans, Neil, Bexon, Kimberley J., van der Meer, Dieudonne J. and Williams, Graham (2015) Differentiating between monozygotic twins through DNA methylation specific high resolution melt curve analysis. Analytical Biochemistry. ISSN 0003-2697

Tian, Jiao-Yang, Wang, Hua-Wei, Li, Yu-Chun, Zhang, Wen, Yao, Yong-Gang, van Straten, Jits, Richards, Martin B. and Kong, Qing-Peng (2015) A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road. Scientific Reports, 5. p. 8377. ISSN 2045-2322

Witting, M., Molina, M., Obst, K., Plank, R., Eckl, K.M., Hennies, Hans C., Calderon, M., Friess, W. and Hedtrich, S. (2015) Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules. Nanomedicine, 11 (5). pp. 1179-1187. ISSN 1549-9634

2014

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K.M., Merk, H.F., Hennies, Hans C., Alexiev, U., Haag, R., Küchler, S. and Schäfer-Korting, M. (2014) Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransporters. Journal of Controlled Release, 185. pp. 45-50. ISSN 0168-3659

Bandelt, Hans-Jürgen, Kloss-Brandstätter, Anita, Richards, Martin B., Yao, Yong-Gang and Logan, Ian (2014) The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies. Journal of Human Genetics, 59 (2). pp. 66-77. ISSN 1434-5161

Bexon, K. and Williams, Graham (2014) Characterising changes in expression of body fluid specific microRNA markers in vaginal material over a 31 day period. In: International Society for Forensic Genetics English Speaking Working Group Annual Meeting, 28th - 31st May 2014, Athens, Greece. (Unpublished)

Bryk, Jarek and Tautz, Diethard (2014) Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus). Frontiers in Genetics, 5. ISSN 1664-8021

Carossa, Valeria, Ghelli, Anna, Tropeano, Concetta Valentina, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Martinuzzi, Andrea, De Nardo, Vera, Rugolo, Michela, Ferretti, Luca, Gandini, Francesca, Pala, Maria, Achilli, Alessandro, Olivieri, Anna, Torroni, Antonio and Carelli, Valerio (2014) A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance. Human Mutation, 35 (8). pp. 954-958. ISSN 10597794

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, Hans C. and Schäfer-Korting, M. (2014) Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Experimental dermatology, 23 (4). pp. 286-288. ISSN 1600-0625

Joyce, Peter R., Stephenson, John, Kennedy, Martin, Mulder, Roger T. and McHugh, Patrick C (2014) The presence of both serotonin 1A receptor (HTR1A) and dopamine transporter (DAT1) gene variants increase the risk of borderline personality disorder. Frontiers in Genetics: Behavioural and Psychiatric Genetics, 4 (313). ISSN 1664-8021

Jump, Alistair S., Carr, Martin, Ahrends, Antje and Marchant, Rob (2014) Genetic Divergence During Long-term Isolation in Highly Diverse Populations of Tropical Trees Across the Eastern Arc Mountains of Tanzania. Biotropica, 46 (5). pp. 565-574. ISSN 00063606

La Morgia, Chiara, Caporali, Leonardo, Gandini, Francesca, Olivieri, Anna, Toni, Francesco, Nassetti, Stefania, Brunetto, Daniela, Stipa, Carlotta, Scaduto, Cristina, Parmeggiani, Antonia, Tonon, Caterina, Lodi, Raffaele, Torroni, Antonio and Carelli, Valerio (2014) Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. BMC Neurology, 14 (1). p. 116. ISSN 1471-2377

Morelli, L., Useli, A., Sanna, D., Barbato, M., Contu, D., Pala, Maria, Cancedda, M. and Francalacci, P. (2014) Mitochondrial DNA lineages of Italian Giara and Sarcidano horses. Genetics and Molecular Research, 13 (4). pp. 8241-8257. ISSN 16765680

Pala, Maria, Chaubey, G., Soares, P. and Richards, Martin B. (2014) The archaeogenetics of European ancestry. In: Encyclopaedia of LIfe Sciences. Wiley, Chichester, UK.

Reeves, R. Guy, Bryk, Jarek, Altrock, Philipp M., Denton, Jai A. and Reed, Floyd A. (2014) First Steps towards Underdominant Genetic Transformation of Insect Populations. PLoS ONE, 9 (5). e97557. ISSN 1932-6203

Schiller, S., Seebode, C., Hennies, Hans C., Giehl, K. and Emmert, S. (2014) Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. Journal der Deutschen Dermatologischen Gesellschaft, 12 (9). pp. 781-788. ISSN 1610-0379

Stewart, L., Evans, N., Bexon, K., van der Meer, D. and Williams, Graham (2014) Differentiating between monozygotic twins through methylation specific high resolution melt curve analysis. In: International Society for Forensic Genetics English Speaking Working Group Annual Meeting, 28th - 31st May 2014, Athens, Greece. (Unpublished)

Uchimoto, M.L., Coult, N. and Williams, Graham (2014) Characterisation of OFMIR-205,MIR-451 and RNU44 in blood and saliva samples. In: International Society for Forensic Genetics English Speaking Working Group Annual Meeting, 28th - 31st May 2014, Athens, Greece. (Unpublished)

Williams, Graham (2014) Latest Developments in Forensic Applications in MicroRNA Analysis. In: Forensic Europe Expo 2014, 29th - 30th April 2014, London, UK. (Unpublished)

van der Meer, D., Uchimoto, M.L. and Williams, Graham (2014) Combining microRNA analysis with DNA profiling in a single stream process. In: International Society for Forensic Genetics English Speaking Working Group Annual Meeting, 28th - 31st May 2014, Athens, Greece. (Unpublished)

2013

Achilli, A., Perego, U. A., Lancioni, H., Olivieri, A., Gandini, Francesca, Hooshiar Kashani, B., Battaglia, V., Grugni, V., Angerhofer, N., Rogers, M. P., Herrera, R. J., Woodward, S. R., Labuda, D., Smith, D. G., Cybulski, J. S., Semino, O., Malhi, R. S. and Torroni, A. (2013) Reconciling migration models to the Americas with the variation of North American native mitogenomes. Proceedings of the National Academy of Sciences, 110 (35). pp. 14308-14313. ISSN 00278424

Bostock, Esta, Parkes, Gareth M.B and Williams, Graham (2013) A novel method for the analysis of slash cuts to clothing. Journal of Forensic Research. ISSN 2157-7145

Bryk, Jarek, Somel, Mehmet, Lorenc, Anna and Teschke, Meike (2013) Early gene expression divergence between allopatric populations of the house mouse (Mus musculus domesticus). Ecology and Evolution, 3 (3). pp. 558-568. ISSN 20457758

Caporali, Leonardo, Ghelli, Anna Maria, Iommarini, Luisa, Maresca, Alessandra, Valentino, Maria Lucia, La Morgia, Chiara, Liguori, Rocco, Zanna, Claudia, Barboni, Piero, De Nardo, Vera, Martinuzzi, Andrea, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Calvaruso, Maria Antonietta, Cappelletti, Martina, Porcelli, Anna Maria, Achilli, Alessandro, Pala, Maria, Torroni, Antonio and Carelli, Valerio (2013) Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1832 (3). pp. 445-452. ISSN 09254439

Costa, Marta D, Pereira, Joana B, Pala, Maria, Fernandes, Veronica, Olivien, Anna, Achilli, Alessandro, Perego, Ugo A., Rychkov, Sergei, Naumova, Oksana, Hatina, Jiri, Woodward, Scott R., Eng, Ken Khong, Macaulay, Vincent, Carr, Martin, Soares, Pedro, Pereira, Luísa and Richards, Martin B. (2013) A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages. Nature Communications, 4 (2543). ISSN 2041-1723

Deacon, Sarah E. and McPherson, Michael J. (2013) Chapter 3. DNA Mutagenesis. In: Tools and Techniques in Biomolecular Science. Oxford University Press, Oxford, UK, pp. 35-40. ISBN 9780199695560

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, Hans C. (2013) Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. Journal of Investigative Dermatology, 133 (9). pp. 2202-2211. ISSN 0022-202X

Fredericks, Jamie, Brown, Kaia, Williams, Anna and Bennett, Phil (2013) DNA analysis of skeletal tissue recovered from the English Channel. Journal of Forensic and Legal Medicine, 20 (6). pp. 757-759. ISSN 1752928X

Kushniarevich, Alena, Sivitskaya, Larysa, Danilenko, Nina, Novogrodskii, Tadeush, Tsybovsky, Iosif, Kiseleva, Anna, Kotova, Svetlana, Chaubey, Gyaneshwer, Metspalu, Ene, Sahakyan, Hovhannes, Bahmanimehr, Ardeshir, Reidla, Maere, Rootsi, Siiri, Parik, Jüri, Reisberg, Tuuli, Achilli, Alessandro, Hooshiar Kashani, Baharak, Gandini, Francesca, Olivieri, Anna, Behar, Doron M., Torroni, Antonio, Davydenko, Oleg and Villems, Richard (2013) Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool. PLoS ONE, 8 (6). e66499. ISSN 1932-6203

Macaulay, Vincent and Richards, Martin B. (2013) Mitochondrial Genome Sequences and Their Phylogeographic Interpretation. Encyclopaedia of LIfe Sciences eLS.

Marchetti, Daniela, Arena, Elisa, Boschi, Ilaria and Vanin, Stefano (2013) Human DNA extraction from empty puparia. Forensic Science International, 229 (1-3). e26-e29. ISSN 03790738

Nellen, R.G., Steijlen, P.M., Hennies, Hans C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A. and van Geel, M. (2013) Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. British Journal of Dermatology, 168 (6). pp. 1372-1374. ISSN 0007-0963

Olivieri, Anna, Pala, Maria, Gandini, Francesca, Kashani, Baharak Hooshiar, Perego, Ugo A., Woodward, Scott R., Grugni, Viola, Battaglia, Vincenza, Semino, Ornella, Achilli, Alessandro, Richards, Martin B. and Torroni, Antonio (2013) Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within Europe. PLoS ONE, 8 (7). e70492. ISSN 1932-6203

Pasternack, S.M., Refke, M., Paknia, E., Hennies, Hans C., Franz, T., Schäfer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nöthen, M.M., Fischer, U. and Betz, R.C. (2013) Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. The American Journal of Human Genetics, 92 (1). pp. 81-87. ISSN 0002-9297

Rito, Teresa, Richards, Martin B., Fernandes, Verónica, Alshamali, Farida, Cerny, Viktor, Pereira, Luísa and Soares, Pedro (2013) The First Modern Human Dispersals across Africa. PLoS ONE, 8 (11). e80031. ISSN 1932-6203

Roach, Jason and Pease, Ken (2013) Evolutionary Perspectives on Crime Prevention. In: Encyclopedia of Criminology and Criminal Justice. Springer-Verlag, London, UK, pp. 1447-1454. ISBN 9781461456919

Shao, K., Koch, C., Gupta, M.K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, Hans C., Hescheler, J., Zenke, M., Zechner, U., Saric, T. and Wagner, W. (2013) Induced pluripotent mesenchymal stromal cell clones retain donor-derived differences in DNA methylation profiles. Molecular Therapy—Nucleic Acids, 21 (1). pp. 240-250. ISSN 2162-2531

Suga, Hiroshi, Chen, Zehua, de Mendoza, Alex, Sebé-Pedrós, Arnau, Brown, Matthew W., Kramer, Eric, Carr, Martin, Kerner, Pierre, Vervoort, Michel, Sánchez-Pons, Núria, Torruella, Guifré, Derelle, Romain, Manning, Gerard, Lang, B. Franz, Russ, Carsten, Haas, Brian J., Roger, Andrew J., Nusbaum, Chad and Ruiz-Trillo, Iñaki (2013) The Capsaspora genome reveals a complex unicellular prehistory of animals. Nature Communications, 4. pp. 1-9. ISSN 2041-1723

Van der Meer, Donny, Uchimoto, Mari and Williams, Graham (2013) Simultaneous analysis of microRNA and DNA for determining the body fluid origin of DNA profiles. Journal of Forensic Sciences, 58 (4). pp. 967-971. ISSN 0022-1198

Williams, Graham, Uchimoto, Mari, Coult, Natalie, World, Damien and Beasley, Emma (2013) Body fluid mixtures; resolution using forensic microRNA analysis. In: The 25th World Congress of the International Society for Forensic Genetics, 2nd-7th September 2013, Melbourne, Australia.

Williams, Graham, Uchimoto, Mari, Coult, Natalie, World, Damien, Beasley, Emma and Avenell, Philip (2013) Characterisation of body fluid specific microRNA markers by capillary electrophoresis. In: The 25th World Congress of the International Society for Forensic Genetics, 2nd-7th September 2013, Melbourne, Australia.

Williams, Graham, Uchimoto, Mari L., Coult, Natalie, World, Damien and Beasley, Emma (2013) Body fluid mixtures; resolution using forensic microRNA analysis. Forensic Science International: Genetics Supplement Series, 4 (1). pp. 292-293. ISSN 1875-1768

Williams, Graham, Uchimoto, Mari L., Coult, Natalie, World, Damien, Beasley, Emma and Avenell, Philip (2013) Characterisation of body fluid specific microRNA markers by capillary electrophoresis. Forensic Science International: Genetics Supplement Series, 4 (1). pp. 274-275. ISSN 1875-1768

Williams, Graham (2013) Capillary electrophoretic analysis of body fluid specific microRNA markers in order to multiplex with STR kits. In: European Forensic DNA Working Group Meeting, 19th - 21st March 2013, Lisbon, Portugal.

Williams, Graham, Connolly, Jo-Ann, Omelia, Emma, Beasley, Emma and Gaduzo, Dominic (2013) Characterising degradation profiles of RNA molecules within blood stains: Pilot studies. In: Advances in Temporal Forensic Investigations, 4th-5th November 2013, Huddersfield, UK.

Williams, Graham, Pandre, Manohar, Ahmed, Waseeh, Beasley, Emma and Omelia, Emma J. (2013) Evaluation of low trace DNA recovery techniques from ridged surfaces. Journal of Forensic Research. ISSN 2157-7145

2012

Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio and Carelli, Valerio (2012) Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy. PLoS ONE, 7 (8). e42242. ISSN 1932-6203

Aufenvenne, K., Rice, R.H., Hausser, I., Oji, V., Hennies, Hans C., Rio, M.D., Traupe, H. and Larcher, F. (2012) Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. Journal of Investigative Dermatology, 132 (7). pp. 1918-1921. ISSN 0022-202X

Bexon, Kimberley and Williams, Graham (2012) Evaluating the effect of multiple displacement amplification upon low-level multiple source DNA profiles. International Journal of Criminal Investigation, 2 (2). pp. 103-110. ISSN 2247-0271

Blaydon, D.C., Etheridge, S.L., Risk, J.M., Hennies, Hans C., Gay, L.J., Carroll, R., Plagnol, V., McRonald, F.E., Stevens, H.P., Spurr, N.K., Bishop, D.T., Ellis, A., Jankowski, J., Field, J.K., Leigh, I.M., South, A.P. and Kelsell, D.P. (2012) RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. The American Journal of Human Genetics, 90 (2). pp. 340-346. ISSN 0002-9297

Blyth, Eric (2012) Genes r us? Making sense of genetic and non-genetic relationships following anonymous donor insemination. Reproductive BioMedicine Online, 24 (7). pp. 719-726. ISSN 14726483

Chan, Yingguang Frank, Jones, Felicity C., McConnell, Ellen, Bryk, Jarek, Bünger, Lutz and Tautz, Diethard (2012) Parallel Selection Mapping Using Artificially Selected Mice Reveals Body Weight Control Loci. Current Biology, 22 (9). pp. 794-800. ISSN 09609822

Fernandes, V., Alshamali, F., Alves, M., Costa, M.D., Pereira, Joana B., Cherni, L., Harich, N., Cerny, V., Soares, P., Richards, Martin B. and Pereira, Luísa (2012) The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa. American Journal of Human Genetics, 90 (2). pp. 347-355. ISSN 1537-6605

Fredericks, Jamie Daniel, Bennett, Phil, Williams, Anna and Rogers, Keith Derek (2012) FTIR spectroscopy: A new diagnostic tool to aid DNA analysis from heated bone. Forensic Science International: Genetics, 6 (3). pp. 375-380. ISSN 1872-4973

Grugni, Viola, Battaglia, Vincenza, Hooshiar Kashani, Baharak, Parolo, Silvia, Al-Zahery, Nadia, Achilli, Alessandro, Olivieri, Anna, Gandini, Francesca, Houshmand, Massoud, Sanati, Mohammad Hossein, Torroni, Antonio and Semino, Ornella (2012) Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians. PLoS ONE, 7 (7). e41252. ISSN 1932-6203

Hussain, M.S., Baig, S.M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I.A., Alef, T., Hennies, Hans C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A. and Nürnberg, P. (2012) A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. The American Journal of Human Genetics, 90 (5). pp. 871-878. ISSN 0002-9297

Jansen, P.A., van den Bogaard, E.H., Kersten, F.F., Oostendorp, C., van Vlijmen-Willems, I.M., Oji, V., Traupe, H., Hennies, Hans C., Schalkwijk, J. and Zeeuwen, P.L. (2012) Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Experimental dermatology, 21 (11). pp. 889-891. ISSN 1600-0625

Karachanak, Sena, Carossa, Valeria, Nesheva, Desislava, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Grugni, Viola, Battaglia, Vincenza, Achilli, Alessandro, Yordanov, Yordan, Galabov, Angel S., Semino, Ornella, Toncheva, Draga and Torroni, Antonio (2012) Bulgarians vs the other European populations: a mitochondrial DNA perspective. International Journal of Legal Medicine, 126 (4). pp. 497-503. ISSN 0937-9827

Lehane, Michael J., Reeves, R. Guy, Denton, Jai A., Santucci, Fiammetta, Bryk, Jarek and Reed, Floyd A. (2012) Scientific Standards and the Regulation of Genetically Modified Insects. PLoS Neglected Tropical Diseases, 6 (1). e1502. ISSN 1935-2735

Pala, Maria, Olivieri, Anna, Achilli, Alessandro, Accetturo, Matteo, Metspalu, Ene, Reidla, Maere, Tamm, Erika, Karmin, Monika, Reisberg, Tuuli, Hooshiar Kashani, Baharak, Perego, Ugo A., Carossa, Valeria, Gandini, Francesca, Pereira, Joana B., Soares, Pedro, Angerhofer, Norman, Rychkov, Sergei, Al-Zahery, Nadia, Carelli, Valerio, Sanati, Mohammad Hossein, Houshmand, Massoud, Hatina, Jiři, Macaulay, Vincent, Pereira, Luísa, Woodward, Scott R., Davies, William, Gamble, Clive, Baird, Douglas, Semino, Ornella, Villems, Richard, Torroni, Antonio and Richards, Martin B. (2012) Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia. The American Journal of Human Genetics, 90 (5). pp. 915-924. ISSN 0002-9297

Soares, P., Alshamali, F., Pereira, J. B., Fernandes, V., Silva, N. M., Afonso, C., Costa, M. D., Musilova, E., Macaulay, V., Richards, Martin B., Cerny, V. and Pereira, L. (2012) The Expansion of mtDNA Haplogroup L3 within and out of Africa. Molecular Biology and Evolution, 29 (3). pp. 915-927. ISSN 0737-4038

Uchimoto, Mari, Van der Meer, Donny and Williams, Graham (2012) Single channel simultaneous analysis of DNA and microRNA. In: 21st International Symposium on the Forensic Sciences of the Australian and New Zealand Forensic Science Society, 23rd September 2012 - 27th September 2012, Hobart, Tasmania, New Zealand.

Williams, Graham (2012) Single Channel Simultaneous Analysis of DNA and MicroRNA. In: Proceedings of the American Academy of Forensic Sciences. 2012 AAFS Annual Meeting, 18 . American Academy of Forensic Sciences AAFS, Atlanta, Georgia, USA, p. 34.

de Saint Pierre, Michelle, Gandini, Francesca, Perego, Ugo A., Bodner, Martin, Gómez-Carballa, Alberto, Corach, Daniel, Angerhofer, Norman, Woodward, Scott R., Semino, Ornella, Salas, Antonio, Parson, Walther, Moraga, Mauricio, Achilli, Alessandro, Torroni, Antonio and Olivieri, Anna (2012) Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes. PLoS ONE, 7 (12). e51311. ISSN 1932-6203

2011

Achilli, Alessandro, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Carossa, Valeria, Perego, Ugo A., Gandini, Francesca, Santoro, Aurelia, Battaglia, Vincenza, Grugni, Viola, Lancioni, Hovirag, Sirolla, Cristina, Bonfigli, Anna Rita, Cormio, Antonella, Boemi, Massimo, Testa, Ivano, Semino, Ornella, Ceriello, Antonio, Spazzafumo, Liana, Gadaleta, Maria Nicola, Marra, Maurizio, Testa, Roberto, Franceschi, Claudio and Torroni, Antonio (2011) Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a Whole. PLoS ONE, 6 (6). e21029. ISSN 1932-6203

Al-Zahery, Nadia, Pala, Maria, Battaglia, Vincenza, Grugni, Viola, Hamod, Mohammed A, Hooshiar Kashani, Baharak, Olivieri, Anna, Torroni, Antonio, Santachiara-Benerecetti, Augusta S and Semino, Ornella (2011) In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq. BMC Evolutionary Biology, 11 (1). p. 288. ISSN 1471-2148

Arweiler-Harbeck, D., Horsthemke, B., Jahnke, K. and Hennies, Hans C. (2011) Genetic Aspects of Familial Meniere's Disease. Otology and Neurotology, 32 (4). pp. 695-700. ISSN 1531-7129

Blaydon, D.C., Nitoiu, D., Eckl, K.M., Cabral, R.M., Bland, P., Hausser, I., van Heel, D.A., Rajpopat, S., Fischer, J., Oji, V., Zvulunov, A., Traupe, H., Hennies, Hans C. and Kelsell, D.P. (2011) Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. The American Journal of Human Genetics, 89 (4). pp. 564-571. ISSN 0002-9297

Chaubey, G., Metspalu, M., Choi, Y., Magi, R., Romero, I. G., Soares, P., van Oven, M., Behar, D. M., Rootsi, S., Hudjashov, G., Mallick, C. B., Karmin, M., Nelis, M., Parik, J., Reddy, A. G., Metspalu, E., van Driem, G., Xue, Y., Tyler-Smith, C., Thangaraj, K., Singh, L., Remm, M., Richards, Martin B., Lahr, M. M., Kayser, M., Villems, R. and Kivisild, T. (2011) Population Genetic Structure in Indian Austroasiatic Speakers: The Role of Landscape Barriers and Sex-Specific Admixture. Molecular Biology and Evolution, 28 (2). pp. 1013-1024. ISSN 0737-4038

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

Dolmans, G.H. and Hennies, Hans C. (2011) The genetic basis of Dupuytren's disease. In: Morbus Dupuytren and related hyperproliferative disorders. Springer, Heidelberg, pp. 89-91. ISBN 978-3-642-22696-0

Dolmans, G.H., Werker, P.M., Hennies, Hans C., Furniss, D., Festen, E.A., Franke, L., Becker, K., van der Vlies, P., Wolffenbuttel, B.H., Tinschert, S., Toliat, M.R., Nothnagel, M., Franke, A., Klopp, N., Wichmann, H.E., Nürnberg, P., Giele, H., Ophoff, R.A. and Wijmenga, C. (2011) Wnt signaling and Dupuytren's disease. New England Journal of Medicine, 365 (4). pp. 307-317. ISSN 0028-4793

Eckl, K.M., Alef, T., Torres, S. and Hennies, Hans C. (2011) Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology, 131 (9). pp. 1938-1942. ISSN 0022-202X

Fatima, A., Xu, G., Shao, K., Papadopoulos, S., Lehmann, M., Arnaiz-Cot, J.J., Rosa, A.O., Nguemo, F., Matzkies, M., Dittmann, S., Stone, S.L., Linke, M., Zechner, U., Beyer, V., Hennies, Hans C., Rosenkranz, S., Klauke, B., Parwani, A.S., Haverkamp, W., Pfitzer, G., Farr, M., Cleemann, L., Morad, M., Milting, H., Hescheler, J. and Saric, T. (2011) In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cellular Physiology and Biochemistry, 28 (4). pp. 579-592. ISSN 1015-8987

Forstbauer, L.M., Brockschmidt, F.F., Moskvina, V., Herold, C., Redler, S., Herzog, A., Hillmer, A.M., Meesters, C., Heilmann, S., Albert, F., Alblas, M., Hanneken, S., Eigelshoven, S., Giehl, K.A., Jagielska, D., Blume-Peytavi, U., Garcia Bartels, N., Kuhn, J., Hennies, Hans C., Goebeler, M., Jung, A., Peitsch, W.K., Kortüm, A.K., Moll, I., Kruse, R., Lutz, G., Wolff, H., Blaumeiser, B., Böhm, M., Kirov, G., Becker, T., Nöthen, M.M. and Betz, R.C. (2011) Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics, 20 (3). pp. 326-332. ISSN 1018-4813

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K.M., Hennies, Hans C., Sarig, O., Goldsher, D., Meilik, B., Ishida-Yamamoto, A., Horowitz, M. and Sprecher, E. (2011) CEDNIK syndrome results from loss-of-function mutations in SNAP29. British Journal of Dermatology, 164 (3). pp. 610-616. ISSN 0007-0963

Furniss, D., Dolmans, G.H. and Hennies, Hans C. (2011) Genome-wide association scan of Dupuytren's disease. Journal of Hand Surgery, 36 (4). pp. 755-756. ISSN 0363-5023

Gruber, R., Hennies, Hans C., Romani, N. and Schmuth, M. (2011) A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype. Archives of Dermatology, 147 (6). pp. 748-750. ISSN 0003-987X

Kashani, Baharak Hooshiar, Perego, Ugo A., Olivieri, Anna, Angerhofer, Norman, Gandini, Francesca, Carossa, Valeria, Lancioni, Hovirag, Semino, Ornella, Woodward, Scott R., Achilli, Alessandro and Torroni, Antonio (2011) Mitochondrial haplogroup C4c: A rare lineage entering America through the ice-free corridor? American Journal of Physical Anthropology, 147 (1). pp. 35-39. ISSN 0002-9483

Küchler, S., Henkes, D., Eckl, K.M., Ackermann, K., Plendl, J., Korting, H.C., Hennies, Hans C. and Schäfer-Korting, M. (2011) Hallmarks of atopic skin in vitro - Mimicked by the means of a skin disease model based on FLG knock down. Alternatives to Laboratory Animals, 39 (5). pp. 471-480. ISSN 0261-1929

Nousbeck, J., Ishida-Yamamoto, A., Bidder, M., Fuchs, D., Eckl, K.M., Hennies, Hans C., Sagiv, N., Gat, A., Gini, M., Filip, I., Matz, H., Goldberg, I., Enk, C.D., Sarig, O., Meilik, B., Aberdam, D., Gilhar, A. and Sprecher, E. (2011) IGFBP7 as a Potential Therapeutic Target in Psoriasis. Journal of Investigative Dermatology, 131 (8). pp. 1767-1770. ISSN 0022-202X

Sanna, Daria, Pala, Maria, Cossu, Piero, Dedola, Gian Luca, Melis, Sonia, Fresu, Giovanni, Morelli, Laura, Obinu, Domenica, Tonolo, Giancarlo, Secchi, Giannina, Triunfo, Riccardo, Lorenz, Joseph G., Scheinfeldt, Laura, Torroni, Antonio, Robledo, Renato and Francalacci, Paolo (2011) Mendelian breeding units versus standard sampling strategies: mitochondrial DNA variation in southwest Sardinia. Genetics and Molecular Biology, 34 (2). pp. 187-194. ISSN 1415-4757

Seifert, W., Kühnisch, J., Maritzen, T., Horn, D., Haucke, V. and Hennies, Hans C. (2011) The Cohen syndrome-associated protein COH1 is a novel giant golgi matrix protein required for golgi integrity. Journal of Biological Chemistry, 286 (43). pp. 37665-37675. ISSN 0021-9258

Williams, Graham (2011) Forensic Applications of Whole Genome Amplification. International Journal of Criminal Investigation, 1 (3). pp. 123-135. ISSN 2247-0271

Wolf, Jochen BW and Bryk, Jarek (2011) General lack of global dosage compensation in ZZ/ZW systems? Broadening the perspective with RNA-seq. BMC Genomics, 12 (1). p. 91. ISSN 1471-2164

2010

Brotherton, Paul, Sanchez, Juan J, Cooper, Alan and Endicott, Phillip (2010) Preferential access to genetic information from endogenous hominin ancient DNA and accurate quantitative SNP-typing via SPEX. Nucleic Acids Research, 38 (2). e7-e7. ISSN 0305-1048

Edwards, Ceiridwen J., Magee, David A., Park, Stephen D. E., McGettigan, Paul A., Lohan, Amanda J., Murphy, Alison, Finlay, Emma K., Shapiro, Beth, Chamberlain, Andrew T., Richards, Martin B., Bradley, Daniel G., Loftus, Brendan J. and MacHugh, David E. (2010) A Complete Mitochondrial Genome Sequence from a Mesolithic Wild Aurochs (Bos primigenius). PLoS ONE, 5 (2). e9255. ISSN 1932-6203

Oji, V., Eckl, K.M., Aufenvenne, K., Natebus, M., Tarinski, T., Ackermann, K., Seller, N., Metze, D., Nürnberg, G., Fölster-Holst, R., Schäfer-Korting, M., Hausser, I., Traupe, H. and Hennies, Hans C. (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. American Journal of Human Genetics, 87 (2). pp. 274-281. ISSN 1537-6605

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon C., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J.J., Elias, P., Fischer, J., Fleckman, P., Gina, M., Harper, J., Hashimoto, T., Hausser, I., Hennies, Hans C., Hohl, D., Hovnanian, A., Ishida-Yamamoto, A., Jacyk, W.K., Leachman, S., Leigh, I., Mazereeuw-Hautier, J., Milstone, L., Morice-Picard, F., Paller, A.S., Richard, G., Schmuth, M., Shimizu, H., Sprecher, E., Van, Steensel M., Taieb, A., Toro, J.R., Vabres, P., Vahlquist, A., Williams, M. and Traupe, H. (2010) Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

Perego, Ugo A., Angerhofer, Norman, Pala, Maria, Olivieri, Anna, Lancioni, Hovirag, Hooshiar Kashani, Baharak, Carossa, Valeria, Ekins, Jayne E., Gomez-Carballa, Alberto, Huber, Gabriela, Zimmermann, Bettina, Corach, Daniel, Babudri, Nora, Panara, Fausto, Myres, Natalie M., Parson, Walther, Semino, Ornella, Salas, Antonio, Woodward, Scott R., Achilli, Alessandro and Torroni, Antonio (2010) The initial peopling of the Americas: A growing number of founding mitochondrial genomes from Beringia. Genome Research, 20 (9). pp. 1174-1179. ISSN 1088-9051

Pereira, Luísa, Silva, Nuno M, Franco-Duarte, Ricardo, Fernandes, Verónica, Pereira, Joana B, Costa, Marta D, Martins, Haidé, Soares, Pedro, Behar, Doron M, Richards, Martin B. and Macaulay, Vincent (2010) Population expansion in the North African Late Pleistocene signalled by mitochondrial DNA haplogroup U6. BMC Evolutionary Biology, 10 (1). p. 390. ISSN 1471-2148

Pulvers, J. N., Bryk, Jarek, Fish, J. L., Wilsch-Brauninger, M., Arai, Y., Schreier, D., Naumann, R., Helppi, J., Habermann, B., Vogt, J., Nitsch, R., Toth, A., Enard, W., Paabo, S. and Huttner, W. B. (2010) Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline. Proceedings of the National Academy of Sciences, 107 (38). pp. 16595-16600. ISSN 00278424

Soares, Pedro, Achilli, Alessandro, Semino, Ornella, Davies, William, Macaulay, Vincent, Bandelt, Hans-Jürgen, Torroni, Antonio and Richards, Martin B. (2010) The Archaeogenetics of Europe. Current Biology, 20 (4). R174-R183. ISSN 09609822

Trindade, F., Fiadeiro, T., Torrelo, A., Hennies, Hans C., Hausser, I. and Traupe, H. (2010) Bathing suit ichthyosis. European Journal Dermatology, 20 (4). pp. 447-450. ISSN 1167-1122

2009

Achilli, Alessandro, Bonfiglio, Silvia, Olivieri, Anna, Malusà, Arianna, Pala, Maria, Hooshiar Kashani, Baharak, Perego, Ugo A., Ajmone-Marsan, Paolo, Liotta, Luigi, Semino, Ornella, Bandelt, Hans-Jürgen, Ferretti, Luca and Torroni, Antonio (2009) The Multifaceted Origin of Taurine Cattle Reflected by the Mitochondrial Genome. PLoS ONE, 4 (6). e5753. ISSN 1932-6203

Alef, T., Torres, S., Hausser, I., Metze, D., Tursen, U., Lestringant, G.G. and Hennies, Hans C. (2009) Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processing. Journal of Investigative Dermatology, 129 (4). pp. 862-869. ISSN 0022-202X

Aufenvenne, K., Oji, V., Walker, T., Becker-Pauly, C., Hennies, Hans C., Stöcker, W. and Traupe, H. (2009) Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. Journal of Investigative Dermatology, 129 (8). pp. 2068-2071. ISSN 0022-202X

Basel-Vanagaite, L., Sarig, O., Hershkovitz, D., Fuchs-Telem, D., Rapaport, D., Gat, A., Isman, G., Shirazi, I., Shohat, M., Enk, C.D., Birk, E., Kohlhase, J., Matysiak-Scholze, U., Maya, I., Knopf, C., Peffekoven, A., Hennies, Hans C., Bergman, R., Horowitz, M., Ishida-Yamamoto, A. and Sprecher, E. (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85 (2). pp. 254-263. ISSN 1537-6605

Battaglia, Vincenza, Fornarino, Simona, Al-Zahery, Nadia, Olivieri, Anna, Pala, Maria, Myres, Natalie M, King, Roy J, Rootsi, Siiri, Marjanovic, Damir, Primorac, Dragan, Hadziselimovic, Rifat, Vidovic, Stojko, Drobnic, Katia, Durmishi, Naser, Torroni, Antonio, Santachiara-Benerecetti, A Silvana, Underhill, Peter A and Semino, Ornella (2009) Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe. European Journal of Human Genetics, 17 (6). pp. 820-830. ISSN 1018-4813

Cormio, Antonella, Milella, Francesco, Marra, Maurizio, Pala, Maria, Lezza, Angela Maria Serena, Bonfigli, Anna Rita, Franceschi, Claudio, Cantatore, Palmiro and Gadaleta, Maria Nicola (2009) Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients. Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1787 (5). pp. 547-552. ISSN 0005-2728

Coudray, Clotilde, Olivieri, Anna, Achilli, Alessandro, Pala, Maria, Melhaoui, Mohamed, Cherkaoui, Mohamed, El-Chennawi, Farha, Kossmann, Maarten, Torroni, Antonio and Dugoujon, Jean-Michel (2009) The Complex and Diversified Mitochondrial Gene Pool of Berber Populations. Annals of Human Genetics, 73 (2). pp. 196-214. ISSN 0003-4800

Dhandapany, Perundurai S, Sadayappan, Sakthivel, Xue, Yali, Powell, Gareth T, Rani, Deepa Selvi, Nallari, Prathiba, Rai, Taranjit Singh, Khullar, Madhu, Soares, Pedro, Bahl, Ajay, Tharkan, Jagan Mohan, Vaideeswar, Pradeep, Rathinavel, Andiappan, Narasimhan, Calambur, Ayapati, Dharma Rakshak, Ayub, Qasim, Mehdi, S Qasim, Oppenheimer, Stephen, Richards, Martin B., Price, Alkes L, Patterson, Nick, Reich, David, Singh, Lalji, Tyler-Smith, Chris and Thangaraj, Kumarasamy (2009) A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics, 41 (2). pp. 187-191. ISSN 1061-4036

Eckl, K.M. and Hennies, Hans C. (2009) Disease-specific skin models: In vitro models for the development of treatment approaches to inherited disorders of cornification as illustrated by congenital ichthyosis. Medizinische Genetik, 21 (4). pp. 487-492. ISSN 0936-5931

Eckl, K.M., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M.L., Martinez-Vidal, F., Smolle, J., Harel, A., Krieger, P., Sprecher, E. and Hennies, Hans C. (2009) Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. Journal of Investigative Dermatology, 129 (6). pp. 1421-1428. ISSN 0022-202X

Endicott, Phillip, Sanchez, Juan J, Pichler, Irene, Brotherton, Paul, Brooks, Jerome, Egarter-Vigl, Eduard, Cooper, Alan and Pramstaller, Peter (2009) Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman. BMC Genetics, 10 (1). p. 29. ISSN 1471-2156

Fornarino, Simona, Pala, Maria, Battaglia, Vincenza, Maranta, Ramona, Achilli, Alessandro, Modiano, Guido, Torroni, Antonio, Semino, Ornella and Santachiara-Benerecetti, Silvana A (2009) Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation. BMC Evolutionary Biology, 9 (1). p. 154. ISSN 1471-2148

Ghelli, Anna, Porcelli, Anna Maria, Zanna, Claudia, Vidoni, Sara, Mattioli, Stefano, Barbieri, Anna, Iommarini, Luisa, Pala, Maria, Achilli, Alessandro, Torroni, Antonio, Rugolo, Michela and Carelli, Valerio (2009) The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity. PLoS ONE, 4 (11). e7922. ISSN 1932-6203

Hennies, Hans C. and Traupe, H. (2009) Genetic skin disorders. Medizinische Genetik, 21 (4). pp. 469-470. ISSN 0936-5931

Oji, V., Traupe, H. and Hennies, Hans C. (2009) Molecular characterization of ichthyoses. New aspects of terminology and classification. Medizinische Genetik, 21 (4). pp. 479-486. ISSN 0936-5931

Pala, Maria, Achilli, Alessandro, Olivieri, Anna, Hooshiar Kashani, Baharak, Perego, Ugo A., Sanna, Daria, Metspalu, Ene, Tambets, Kristiina, Tamm, Erika, Accetturo, Matteo, Carossa, Valeria, Lancioni, Hovirag, Panara, Fausto, Zimmermann, Bettina, Huber, Gabriela, Al-Zahery, Nadia, Brisighelli, Francesca, Woodward, Scott R., Francalacci, Paolo, Parson, Walther, Salas, Antonio, Behar, Doron M., Villems, Richard, Semino, Ornella, Bandelt, Hans-Jürgen and Torroni, Antonio (2009) Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians. The American Journal of Human Genetics, 84 (6). pp. 814-821. ISSN 0002-9297

Perego, Ugo A., Achilli, Alessandro, Angerhofer, Norman, Accetturo, Matteo, Pala, Maria, Olivieri, Anna, Hooshiar Kashani, Baharak, Ritchie, Kathleen H., Scozzari, Rosaria, Kong, Qing-Peng, Myres, Natalie M., Salas, Antonio, Semino, Ornella, Bandelt, Hans-Jürgen, Woodward, Scott R. and Torroni, Antonio (2009) Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA Haplogroups. Current Biology, 19 (1). pp. 1-8. ISSN 0960-9822

Salas, Antonio, Lovo-Gómez, José, Álvarez-Iglesias, Vanesa, Cerezo, María, Lareu, María Victoria, Macaulay, Vincent, Richards, Martin B. and Carracedo, Ángel (2009) Mitochondrial Echoes of First Settlement and Genetic Continuity in El Salvador. PLoS ONE, 4 (9). e6882. ISSN 1932-6203

Zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauss, J., Kasper, B., Nürnberg, G., Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G., Griffiths, G., Ehl, S. and Hennies, Hans C. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American Journal of Human Genetics, 85 (4). pp. 482-492. ISSN 1537-6605

von Lunen, Alexander (2009) The perfect astronaut would be a human without legs - J.B.S. Haldane and 'positive eugenics'. In: Wie nationalsozialistisch ist die Eugenik? / What is National Socialist about Eugenics?: Beitrag zur Geschichte der Eugenik im 20. Jahrhundert / Contributions to the History of Eugenics in the 20th Century. Böhlau, Vienna, Austria, pp. 127-138. ISBN 978-3-205-78203-2

2008

Achilli, Alessandro, Olivieri, Anna, Pellecchia, Marco, Uboldi, Cristina, Colli, Licia, Al-Zahery, Nadia, Accetturo, Matteo, Pala, Maria, Hooshiar Kashani, Baharak, Perego, Ugo A., Battaglia, Vincenza, Fornarino, Simona, Kalamati, Javad, Houshmand, Massoud, Negrini, Riccardo, Semino, Ornella, Richards, Martin B., Macaulay, Vincent, Ferretti, Luca, Bandelt, Hans-Jürgen, Ajmone-Marsan, Paolo and Torroni, Antonio (2008) Mitochondrial genomes of extinct aurochs survive in domestic cattle. Current Biology, 18 (4). R157-R158. ISSN 09609822

Bailly, Xavier, Vanin, Stefano, Chabasse, Christine, Mizuguchi, Kenji and Vinogradov, Serge N (2008) A phylogenomic profile of hemerythrins, the nonheme diiron binding respiratory proteins. BMC Evolutionary Biology, 8 (1). pp. 244-254. ISSN 1471-2148

Bandelt, Hans-Jurgen, Yao, Yong-Gang, Richards, Martin B. and Salas, Antonio (2008) The brave new era of human genetic testing. Bioessays, 30 (11). pp. 1246-1251. ISSN 1521-1878

Brotherton, Paul, Endicott, Phillip, Beaumont, Mark, Barnett, Ross, Austin, Jeremy, Cooper, Alan and Sanchez, Juan J. (2008) Single primer extension (SPEX) amplification to accurately genotype highly damaged DNA templates. Forensic Science International: Genetics Supplement Series, 1 (1). pp. 19-21. ISSN 18751768

Ermini, Luca, Olivieri, Cristina, Rizzi, Ermanno, Corti, Giorgio, Bonnal, Raoul, Soares, Pedro, Luciani, Stefania, Marota, Isolina, De Bellis, Gianluca and Richards, Martin B. (2008) Complete Mitochondrial Genome Sequence of the Tyrolean Iceman. Current Biology, 18 (21). pp. 1687-1693. ISSN 09609822

Haenssle, H.A., Finkenrath, A., Hausser, I., Oji, V., Traupe, H., Hennies, Hans C., Neumann, C. and Emmert, S. (2008) Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clinical and Experimental Dermatology, 33 (5). pp. 578-581. ISSN 0307-6938

Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Natebus, M., Brancati, F., Wilcox, W.R., Muller, D., Kaplan, P.B., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., Clayton-Smith, J., Tassabehji, M., Steinmann, B., Barr, F.A., Nürnberg, P., Wieacker, P. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

Hillmer, A.M., Flaquer, A., Hanneken, S., Eigelshoven, S., Kortum, A.K., Brockschmidt, F.F., Golla, A., Metzen, C., Thiele, H., Kolberg, S., Reinartz, R., Betz, R.C., Ruzicka, T., Hennies, Hans C., Kruse, R. and Nöthen, M.M. (2008) Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. American Journal of Human Genetics, 82 (3). pp. 737-743. ISSN 1537-6605

La Morgia, Chiara, Achilli, Alessandro, Iommarini, Luisa, Barboni, Piero, Pala, Maria, Olivieri, Anna, Zanna, Claudia, Vidoni, Sara, Tonon, Caterina, Lodi, Raffaele, Vetrugno, Roberto, Mostacci, Barbara, Liguori, Rocco, Carroccia, Rosanna, Montagna, Pasquale, Rugolo, Michela, Torroni, Antonio and Carelli, Valerio (2008) Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology, 70 (10). pp. 762-770. ISSN 0028-3878

Pello, Rosa, Martin, Miguel A., Carelli, Valerio, Nijtmans, Leo G., Achilli, Alessandro, Pala, Maria, Torroni, Antonio, Gomez-Duran, Aurora, Ruiz-Pesini, Eduardo, Martinuzzi, Andrea, Smeitink, Jan A., Arenas, Joaquin and Ugalde, Cristina (2008) Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Human Molecular Genetics, 17 (24). pp. 4001-4011. ISSN 0964-6906

Pereira, F., Soares, P., Carneiro, J., Pereira, L., Richards, Martin B., Samuels, D. C. and Amorim, A. (2008) Evidence for Variable Selective Pressures at a Large Secondary Structure of the Human Mitochondrial DNA Control Region. Molecular Biology and Evolution, 25 (12). pp. 2759-2770. ISSN 0737-4038

Richards, Martin B., Capelli, Cristian and Wilson, James F (2008) Genetics and the Origins of the British Population. In: eLS: Encyclopedia of Life Sciences. Wiley, London, UK. ISBN 9780470015902

Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najmabadi, H., Walter, Kuss A., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Mancini, G.M., Dollfus, H., Dahan, K., Apse, K., Hennies, Hans C. and Horn, D. (2008) Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation, 30 (2). pp. 404-420. ISSN 1059-7794

Stajich, Jason E., Bryk, Jarek, Hardouin, Emilie, Pugach, Irina, Hughes, David, Strotmann, Rainer, Stoneking, Mark and Myles, Sean (2008) Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation. PLoS ONE, 3 (5). e2209. ISSN 1932-6203

Stuhrmann, M., Hennies, Hans C., Bukhari, I.A., Brakensiek, K., Nürnberg, G., Becker, C., Huebener, J., Miranda, M.C., Frye-Boukhriss, H., Knothe, S., Schmidtke, J. and El-Harith, E.H. (2008) Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clinical Genetics, 73 (6). pp. 566-572. ISSN 0009-9163

Toppo, Stefano, Vanin, Stefano, Bosello, Valentina and Tosatto, Silvio C. E. (2008) Evolutionary and Structural Insights Into the Multifaceted Glutathione Peroxidase (Gpx) Superfamily. Antioxidant Redox Signaling, 10 (9). pp. 1501-1514. ISSN 1523-0864

2007

Achilli, Alessandro, Olivieri, Anna, Pala, Maria, Metspalu, Ene, Fornarino, Simona, Battaglia, Vincenza, Accetturo, Matteo, Kutuev, Ildus, Khusnutdinova, Elsa, Pennarun, Erwan, Cerutti, Nicoletta, Di Gaetano, Cornelia, Crobu, Francesca, Palli, Domenico, Matullo, Giuseppe, Santachiara-Benerecetti, A. Silvana, Cavalli-Sforza, L. Luca, Semino, Ornella, Villems, Richard, Bandelt, Hans-Jürgen, Piazza, Alberto and Torroni, Antonio (2007) Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans. The American Journal of Human Genetics, 80 (4). pp. 759-768. ISSN 0002-9297

Bellwood, Peter, Gamble, Clive, Le Blanc, Steven A., Pluciennik, Mark, Richards, Martin B. and Terrell, John Edward (2007) First Farmers: the Origins of Agricultural Societies, by Peter Bellwood. Malden (MA): Blackwell, 2005; ISBN 0-631-20565-9. Cambridge Archaeological Journal, 17 (01). p. 87. ISSN 0959-7743

Brotherton, Paul, Endicott, Phillip, Sanchez, Juan J, Beaumont, M., Barnett, R., Austin, J. and Cooper, Alan (2007) Novel high-resolution characterization of ancient DNA reveals C > U-type base modification events as the sole cause of post mortem miscoding lesions. Nucleic Acids Research, 35 (17). pp. 5717-5728. ISSN 0305-1048

Kalay, E., Uzumcu, A., Krieger, E., Caylan, R., Uyguner, O., Ulubil-Emiroglu, M., Erdol, H., Kayserili, H., Hafiz, G., Baserer, N., Heister, A.J., Hennies, Hans C., Nürnberg, P., Basaran, S., Brunner, H.G., Cremers, C.W., Karaguzel, A., Wollnik, B. and Kremer, H. (2007) MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. American Journal of Medical Genetics. Part A, 143A (20). pp. 2382-2389. ISSN 1552-4825

Olivieri, Anna, Achilli, Alessandro, Pala, Maria, Battaglia, Vincenza, Fornarino, Simona, Al-Zahery, Nadia, Scozzari, Rosaria, Cruciani, Fulvio, Behar, Doron M., Dugoujon, J.M., Coudray, C., Santachiara-Benerecetti, Silvana A., Semino, Ornella, Bandelt, Hans-Jürgen and Torroni, Antonio (2007) Response to Timing of a Back-Migration into Africa. Science, 316 (5821). pp. 50-53. ISSN 0036-8075

Richards, Martin B. (2007) Book review: Genes, Language and Culture History in the Southwest Pacific. American Journal of Human Biology, 19 (6). pp. 890-892. ISSN 10420533

Salas, Antonio, Bandelt, Hans-Jürgen, Macaulay, Vincent and Richards, Martin B. (2007) Phylogeographic investigations: The role of trees in forensic genetics. Forensic Science International, 168 (1). pp. 1-13. ISSN 03790738

Uyguner, O., Kayserili, H., Li, Y., Karaman, B., Nürnberg, G., Hennies, Hans C., Becker, C., Nürnberg, P., Basaran, S., Apak, M.Y. and Wollnik, B. (2007) A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clinical Genetics, 71 (3). pp. 212-219. ISSN 0009-9163

Vago, B., Hausser, I., Hennies, Hans C., Enk, A. and Jappe, U. (2007) Hyalinosis cutis et mucosae. Journal der Deutschen Dermatologischen Gesellschaft, 5 (5). pp. 401-405. ISSN 1610-0379

2006

Bandelt, Hans-Jürgen, Macaulay, Vincent and Richards, Martin B. (2006) Human Mitochondrial DNA and the Evolution of Homo sapiens. Nucleic Acids and Molecular Biology, 18 (XIV,). Springer, Berlin, Germany. ISBN 978-3-540-31789-0

Carelli, Valerio, Achilli, Alessandro, Valentino, Maria Lucia, Rengo, Chiara, Semino, Ornella, Pala, Maria, Olivieri, Anna, Mattiazzi, Marina, Pallotti, Francesco, Carrara, Franco, Zeviani, Massimo, Leuzzi, Vincenzo, Carducci, Carla, Valle, Giorgio, Simionati, Barbara, Mendieta, Luana, Salomao, Solange, Belfort, Rubens, Sadun, Alfredo A. and Torroni, Antonio (2006) Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees. The American Journal of Human Genetics, 78 (4). pp. 564-574. ISSN 0002-9297

Cichon, S., Martin, L., Hennies, Hans C., Muller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renne, T., Drouet, C., Bork, K. and Nöthen, M.M. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. American Journal of Human Genetics, 79 (6). pp. 1098-1104. ISSN 1537-6605

Ellinor, P.T., Sasse-Klaassen, S., Probst, S., Gerull, B., Shin, J.T., Toeppel, A., Heuser, A., Michely, B., Yoerger, D.M., Song, B.S., Pilz, B., Krings, G., Coplin, B., Lange, P.E., Dec, G.W., Hennies, Hans C., Thierfelder, L. and MacRae, C.A. (2006) A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. Journal of the American College of Cardiology, 48 (1). pp. 106-111. ISSN 0735-1097

Fürstenberger, G., Epp, N., Eckl, K.M., Hennies, Hans C., Jorgensen, C., Hallenborg, P., Kristiansen, K. and Krieg, P. (2006) Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediators, 82 (1-4). pp. 128-134.

Gamble, Clive, Davies, William, Pettitt, Paul, Hazelwood, Lee and Richards, Martin B. (2006) The Late Glacial ancestry of Europeans: combining genetic and archaeological evidence. Documenta Praehistorica, 33. pp. 1-10. ISSN 1408-967X

Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, Hans C. (2006) Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. British Journal of Dermatology, 154 (1). pp. 167-171. ISSN 0007-0963

Hill, Catherine, Soares, Pedro, Mormina, Maru, Macaulay, Vincent, Meehan, William, Blackburn, James, Clarke, Douglas, Raja, Joseph Maripa, Ismail, Patimah, Bulbeck, David, Oppenheimer, Stephen and Richards, Martin B. (2006) Phylogeography and Ethnogenesis of Aboriginal Southeast Asians. Molecular Biology and Evolution, 23 (12). pp. 2480-2491. ISSN 0737-4038

Hinkes, B. et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nature Genetics, 38 (12). pp. 1397-1405. ISSN 1061-4036

Lafont, Anne-Gaelle, Fitzpatrick, Thomas, Rankin, J. Cliff, Dufour, Sylvie and Fouchereau-Peron, Martine (2006) Possible role of calcitonin gene-related peptide in osmoregulation via the endocrine control of the gill in a teleost, the eel, Anguilla anguilla. Peptides, 27 (4). pp. 812-819. ISSN 0196-9781

Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K.R., Huson, S., Geiger, D., Hennies, Hans C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J.A., Richard, G. and Sprecher, E. (2006) Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. American Journal of Human Genetics, 79 (4). pp. 724-730. ISSN 1537-6605

Mizrachi-Koren, M., Shemer, S., Morganti, M., Indelman, M., Khamaysi, Z., Petronius, D., Bitterman-Deutsch, O., Hennies, Hans C., Bergman, R. and Sprecher, E. (2006) Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. Journal of American Academy of Dermatology, 55 (3). pp. 393-401. ISSN 0190-9622

Neustroev, Kirill N., Golubev, Alexander M, Sinnott, Michael L., Borriss, Rainer, Krah, Martin, Brumer III, Harry, Eneyskaya, Elena V., Shishlyannikov, Sergey, Shabalin1, Konstantin A., Peshechonov, Viacheslav T., Korolev, Vladimir G. and Kulminskaya, Anna A. (2006) Transferase and hydrolytic activities of the laminarinase from rhodothermus marinus and its M133A, M133C, and M133W mutants. Glycoconjugate Journal, 23 (7/8). pp. 501-511. ISSN 0282-0080

Oji, V., Hautier, J.M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P.M., Küster, W., Hovnanian, A., Hennies, Hans C. and Traupe, H. (2006) Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Human Molecular Genetics, 15 (21). pp. 3083-3097. ISSN 0964-6906

Olivieri, Anna, Achilli, Alessandro, Pala, Maria, Battaglia, Vincenza, Fornarino, Simona, Al-Zahery, Nadia, Scozzari, Rosaria, Cruciani, Fulvio, Behar, Doron M., Dugoujon, Jean-Michel, Coudray, Clotilde, Santachiara-Benerecetti, Silvana A., Semino, Ornella, Bandelt, Hans-Jürgen and Torroni, Antonio (2006) The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa. Science, 314 (5806). pp. 1767-1770. ISSN 0036-8075

Pereira, Luísa, Goncalves, J., Franco-Duarte, Ricardo, Silva, J., Rocha, T., Arnold, Catherine, Richards, Martin B. and Macaulay, Vincent (2006) No Evidence for an mtDNA Role in Sperm Motility: Data from Complete Sequencing of Asthenozoospermic Males. Molecular Biology and Evolution, 24 (3). pp. 868-874. ISSN 0737-4038

Pereira, Luísa, Richards, Martin B., Goios, Ana, Alonso, Antonio, Albarrán, Cristina, Garcia, Oscar, Behar, Doron M., Gölge, Mukaddes, Hatina, Jiři, Al-Gazali, Lihadh, Bradley, Daniel G., Macaulay, Vincent and Amorim, António (2006) Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic Science International, 159 (1). pp. 43-50. ISSN 03790738

Roach, Jason and Pease, Ken (2006) DNA evidence and police investigations: a health warning. Police Professional, 52.

Sayer, J.A. et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics, 38 (6). pp. 674-681. ISSN 1061-4036

Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K.H., Maegawa, G.H., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, Hans C. and Horn, D. (2006) Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics, 43 (5). ISSN 0022-2593

Semczuk, Andrzej, Lorenc, Anna, Putowski, Lechoslaw, Bryk, Jarek, Marzec, B. and Bartnik, Ewa (2006) Mitochondrial Mutations in Primary Human Endometrial Carcinomas: Poster Session 3. International Journal of Gynecological Cancer, 16 (s3). pp. 764-814. ISSN 1048-891X

Semczuk, Andrzej, Lorenc, Anna, Putowski, Lechoslaw, Futyma, Konrad, Bryk, Jarek, Miotla, Pawel and Bartnik, Ewa (2006) Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations. Oncology Reports, 16 (5). pp. 1041-1045. ISSN 1021-335X

Soares, P., Pereira, F., Brion, M., Alves, C., Richards, Martin B., Carracedo, A., Amorim, A. and Gusmão, L. (2006) Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages. Progress in Forensic Genetics: International Congress Series, 1288. pp. 82-84. ISSN 05315131

Todt, I., Hennies, Hans C., Küster, W., Smolle, J., Rademacher, G., Mutze, S., Basta, D., Eisenschenk, A. and Ernst, A. (2006) Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. Audiology Neurotology, 11 (4). pp. 242-248. ISSN 1420-3030

Torroni, Antonio, Achilli, Alessandro, Macaulay, Vincent, Richards, Martin B. and Bandelt, Hans-Jürgen (2006) Harvesting the fruit of the human mtDNA tree. Trends in Genetics, 22 (6). pp. 339-345. ISSN 01689525

Utsch, B., Sayer, J.A., Attanasio, M., Pereira, R.R., Eccles, M., Hennies, Hans C., Otto, E.A. and Hildebrandt, F. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology, 21 (1). pp. 32-35. ISSN 0931-041X

Vanita, V., Hejtmancik, J.F., Hennies, Hans C., Guleria, K., Nürnberg, P., Singh, D., Sperling, K. and Singh, J.R. (2006) Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Molecular Vision, 12. pp. 93-99. ISSN 1090-0535

Vanita, V., Hennies, Hans C., Singh, D., Nürnberg, P., Sperling, K. and Singh, J.R. (2006) A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Molecular Vision, 12:121. pp. 1217-1222. ISSN 1090-0535

Vanita, V., Singh, J.R., Hejtmancik, J.F., Nürnberg, P., Hennies, Hans C., Singh, D. and Sperling, K. (2006) A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Molecular Vision, 12. pp. 518-522. ISSN 1090-0535

Wolf, M.T., Mucha, B.E., Hennies, Hans C., Attanasio, M., Panther, F., Zalewski, I., Karle, S.M., Otto, E.A., Deltas, C.C., Fuchshuber, A. and Hildebrandt, F. (2006) Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Human Genetics, 119 (6). pp. 649-658. ISSN 0340-6717

2005

Achilli, Alessandro, Rengo, Chiara, Battaglia, Vincenza, Pala, Maria, Oliveri, Anna, Fornarino, Simona, Magri, Chiara, Scozzari, Rosaria, Babudri, Nora, Santachiara-Benerecetti, Silvana A., Bandelt, Hans-Jürgen, Semino, Ornella and Torroni, Antonio (2005) Saami and Berbers—An Unexpected Mitochondrial DNA Link. The American Journal of Human Genetics, 76 (5). pp. 883-886. ISSN 0002-9297

Caldwell, Elizabeth F. (2005) Molecular Evidence for Dietary Adaptation in Humans. Doctoral thesis, University College London.

Gamble, Clive, Davies, William, Pettitt, Paul, Hazelwood, Lee and Richards, Martin B. (2005) The Archaeological and Genetic Foundations of the European Population during the Late Glacial: Implications for ‘Agricultural Thinking’. Cambridge Archaeological Journal, 15 (02). p. 193. ISSN 0959-7743

Harpending, H., Eswaran, V., Macaulay, Vincent, Hill, Catherine, Achilli, Alessandro, Rengo, Chiara, Clarke, Douglas and Meehan, William (2005) Tracing Modern Human Origins. Science, 309 (5743). 1995b-1997. ISSN 0036-8075

Heissig, Florian, Krause, Johannes, Bryk, Jarek, Khaitovich, Philipp, Enard, Wolfgang and Pääbo, Svante (2005) Functional analysis of human and chimpanzee promoters. Genome Biology, 6 (7). R57. ISSN 14656906

Macaulay, Vincent, Hill, Catherine, Achilli, Alessandro, Rengo, Chiara, Clarke, Douglas, Meehan, William, Blackburn, James, Semino, Ornella, Scozzari, Rosaria, Cruciani, Fulvio, Taha, Adi, Shaari, Norazila Kassim, Raja, Joseph Maripa, Ismail, Patimah, Zainuddin, Zafarina, Goodwin, William, Bulbeck, David, Bandelt, Hans-Jürgen, Oppenheimer, Stephen, Torroni, Antonio and Richards, Martin B. (2005) A Response to Tracing Modern Human Origins. Science, 309 (5743). 1995b-1997b. ISSN 0036-8075

Pereira, Luísa, Richards, Martin B., Goios, Ana, Alonso, Antonio, Albarrán, Cristina, Garcia, Oscar, Behar, Doron M., Gölge, Mukaddes, Hatina, Jiři, Al-Gazali, Lihadh, Bradley, Daniel G., Macaulay, Vincent and Amorim, António (2005) High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Research, 15 (1). pp. 19-24. ISSN 1088-9051

Salas, Antonio, Carracedo, Ángel, Macaulay, Vincent, Richards, Martin B. and Bandelt, Hans-Jürgen (2005) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochemical and Biophysical Research Communications, 335 (3). pp. 891-899. ISSN 0006-291X

Salas, Antonio, Carracedo, Ángel, Richards, Martin B. and Macaulay, Vincent (2005) Charting the Ancestry of African Americans. The American Journal of Human Genetics, 77 (4). pp. 676-680. ISSN 0002-9297

Salas, Antonio, Richards, Martin B., Lareu, María-Victoria, Sobrino, Beatriz, Silva, Sandra, Matamoros, Mireya, Macaulay, Vincent and Carracedo, Ángel (2005) Shipwrecks and founder effects: Divergent demographic histories reflected in Caribbean mtDNA. American Journal of Physical Anthropology, 128 (4). pp. 855-860. ISSN 0002-9483

Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, Hans C. (2005) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Human Mutation, 27 (1). pp. 62-68. ISSN 1059-7794

2004

Achilli, Alessandro, Rengo, Chiara, Magri, Chiara, Battaglia, Vincenza, Olivieri, Anna, Scozzari, Rosaria, Cruciani, Fulvio, Zeviani, Massimo, Briem, Egill, Carelli, Valerio, Moral, Pedro, Dugoujon, Jean-Michel, Roostalu, Urmas, Loogväli, Eva-Liis, Kivisild, Toomas, Bandelt, Hans-Jürgen, Richards, Martin B., Villems, Richard, Santachiara-Benerecetti, A.Silvana, Semino, Ornella and Torroni, Antonio (2004) The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. The American Journal of Human Genetics, 75 (5). pp. 910-918. ISSN 0002-9297

Behar, Doron M, Hammer, Michael F, Garrigan, Daniel, Villems, Richard, Bonne-Tamir, Batsheva, Richards, Martin B., Gurwitz, David, Rosengarten, Dror, Kaplan, Matthew, Pergola, Sergio Della, Quintana-Murci, Lluis and Skorecki, Karl (2004) MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. European Journal of Human Genetics, 12 (5). pp. 355-364. ISSN 1018-4813

Caldwell, Elizabeth F., Von Crammon-Taubadel, Noreen, Weale, Michael E. and Thomas, Mark G. (2004) Salivary amylase gene copy number: Have humans adapted to high starch diets? In: London Evolutionary Research Network 2nd Annual Symposium, 17th September 2004, Natural History Museum, London. (Unpublished)

Caldwell, Elizabeth F., Mayor, Lianne R., Thomas, Mark G. and Danpure, Christopher J. (2004) Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations. Human Genetics, 115 (6). pp. 504-509. ISSN 0340-6717

Caldwell, Elizabeth F., Von Crammon-Taubadel, Noreen, Weale, Michael E. and Thomas, Mark G. (2004) Salivary amylase gene copy number: Have humans adapted to high starch diets? In: 73rd Annual Meeting of the American Association of Physical Anthropologists, April 2004, Tampa, Florida. (Unpublished)

Cruciani, Fulvio, La Fratta, Roberta, Santolamazza, Piero, Sellitto, Daniele, Pascone, Roberto, Moral, Pedro, Watson, Elizabeth, Guida, Valentina, Colomb, Eliane Beraud, Zaharova, Boriana, Lavinha, João, Vona, Giuseppe, Aman, Rashid, Calì, Francesco, Akar, Nejat, Richards, Martin B., Torroni, Antonio, Novelletto, Andrea and Scozzari, Rosaria (2004) Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa. The American Journal of Human Genetics, 74 (5). pp. 1014-1022. ISSN 0002-9297

Gamble, Clive, Davies, William, Pettitt, Paul and Richards, Martin B. (2004) Climate change and evolving human diversity in Europe during the last glacial. Philosophical Transactions of the Royal Society B: Biological Sciences, 359 (1442). pp. 243-254. ISSN 0962-8436

Lorenc, Anna, Bryk, Jarek and Bartnik, Ewa (2004) Mitochondrial DNA in Tumors. Toxicology Mechanisms and Methods, 14 (1-2). pp. 85-90. ISSN 1537-6516

McEvoy, Brian, Richards, Martin B., Forster, Peter and Bradley, Daniel G. (2004) The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe. The American Journal of Human Genetics, 75 (4). pp. 693-702. ISSN 0002-9297

Pereira, Luísa, Richards, Martin B., Alonso, A., Albarrán, C, Garcia, O, Macaulay, Vincent and Amorim, A. (2004) Subdividing mtDNA haplogroup H based on coding-region polymorphisms—a study in Iberia. Progress in Forensic Genetics: International Congress Series, 1261. pp. 416-418. ISSN 05315131

Richards, Martin B. (2004) The mitochondrial DNA tree and forensic science. Progress in Forensic Genetics: International Congress Series, 1261. pp. 91-93. ISSN 05315131

Richards, Martin B., Macaulay, Vincent, Hill, Catherine, Carracedo, Ángel and Salas, Antonio (2004) The archaeogenetics of the Bantu dispersals. In: Traces of Ancestry: Studies in honour of Colin Renfrew. McDonald Institute Monographs . Cambridge University Press, Cambridge, UK, pp. 75-88. ISBN 978-1902937250

Salas, Antonio, Richards, Martin B., Lareu, María Victoria, Scozzari, Rosaria, Coppa, Alfredo, Torroni, Antonio, Macaulay, Vincent and Carracedo, Ángel (2004) The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade. The American Journal of Human Genetics, 74 (3). pp. 454-465. ISSN 0002-9297

Salas, Antonio, Torroni, Antonio, Richards, Martin B., Quintana-Murci, Lluis, Hill, C., Macaulay, Vincent and Carracedo, Ángel (2004) Reply to Bortolini et al. American Journal of Human Genetics, 75 (3). pp. 524-526. ISSN 1537-6605

2003

Bandelt, Hans-Jürgen, Herrnstadt, C., Yao, Y.-G., Kong, Q.-P., Kivisild, T., Rengo, C., Scozzari, R., Richards, Martin B., Villems, R., Macaulay, V., Howell, N., Torroni, A. and Zhang, Y.-P. (2003) Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats. Annals of Human Genetics, 67 (6). pp. 512-524. ISSN 00034800

Capelli, Cristian, Redhead, Nicola, Abernethy, Julia K., Gratrix, Fiona, Wilson, James F., Moen, Torolf, Hervig, Tor, Richards, Martin, Stumpf, Michael P. H., Underhill, Peter A., Bradshaw, Paul, Shaha, Alom, Thomas, Mark G., Bradman, Neil and Goldstein, David B. (2003) A Y Chromosome Census of the British Isles. Current Biology, 13 (11). pp. 979-984. ISSN 09609822

Capelli, Cristian, Redhead, Nicola, Abernethy, Julia K., Gratrix, Fiona, Wilson, James F., Moen, Torolf, Hervig, Tor, Richards, Martin B., Stumpf, Michael P.H., Underhill, Peter A., Bradshaw, Paul, Shaha, Alom, Thomas, Mark G., Bradman, Neal and Goldstein, David B. (2003) A Y Chromosome Census of the British Isles. Current Biology, 13 (11). pp. 979-984. ISSN 09609822

Pettitt, P. B., Davies, W., Gamble, C.S and Richards, Martin B. (2003) Palaeolithic radiocarbon chronology: quantifying our confidence beyond two half-lives. Journal of Archaeological Science, 30 (12). pp. 1685-1693. ISSN 03054403

Richards, Martin (2003) Beware the gene genies. The Guardian Newspaper. p. 20. ISSN 0261-3077

Richards, Martin B. (2003) Beware the gene genies. The Guardian Newspaper. p. 20. ISSN 0261-3077

Richards, Martin B. (2003) The Neolithic transition in Europe: archaeological models and genetic evidence. Documenta Praehistorica, 30. pp. 159-167. ISSN 1408-967X

Richards, Martin B., Rengo, Chiara, Cruciani, Fulvio, Gratrix, Fiona, Wilson, James F., Scozzari, Rosaria, Macaulay, Vincent and Torroni, Antonio (2003) Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations. The American Journal of Human Genetics, 72 (4). pp. 1058-1064. ISSN 0002-9297

2002

Bandelt, Hans-Jürgen, Macaulay, Vincent and Richards, Martin B. (2002) What molecules can’t tell us about the spread of languages and the Neolithic. In: Examining the Farming/Language Dispersal Hypothesis. McDonald Institute Monographs . Cambridge University Press, Cambridge, UK. ISBN 978-1902937205

Oppenheimer, Stephen and Richards, Martin B. (2002) Polynesians: Devolved Taiwanese rice farmers or Wallacean maritime traders with fishing, foraging and horticultural skills? In: Examining the Farming/Language Dispersal Hypothesis. McDonald Institute Monographs . Cambridge University Press, Cambridge, UK. ISBN 978-1902937205

Richards, Martin B. (2002) On the ancestral trail. Review of Mapping Human History by Steve Olson, Bloomsbury,ISBN 07475606. New Scientist (2354). p. 52. ISSN 0262-4079

Richards, Martin B., Macaulay, Vincent and Bandelt, Hans-Jürgen (2002) Analysing genetic data in a model-based framework: inferences about European prehistory. In: Examining the Farming/Language Dispersal Hypothesis. McDonald Institute Monographs . Cambridge University Press, Cambridge, UK. ISBN 978-1902937205

Richards, Martin B., Macaulay, Vincent, Torroni, Antonio and Bandelt, Hans-Jürgen (2002) In Search of Geographical Patterns in European Mitochondrial DNA. The American Journal of Human Genetics, 71 (5). pp. 1168-1174. ISSN 0002-9297

Salas, Antonio, Richards, Martin B., De la Fe, Tomás, Lareu, María-Victoria, Sobrino, Beatriz, Sánchez-Diz, Paula, Macaulay, Vincent and Carracedo, Ángel (2002) The Making of the African mtDNA Landscape. The American Journal of Human Genetics, 71 (5). pp. 1082-1111. ISSN 0002-9297

Thomas, Mark G., Weale, Michael E., Jones, Abigail L., Richards, Martin B., Smith, Alice, Redhead, Nicola, Torroni, Antonio, Scozzari, Rosaria, Gratrix, Fiona, Tarekegn, Ayele, Wilson, James F., Capelli, Cristian, Bradman, Neil and Goldstein, David B. (2002) Founding Mothers of Jewish Communities: Geographically Separated Jewish Groups Were Independently Founded by Very Few Female Ancestors. The American Journal of Human Genetics, 70 (6). pp. 1411-1420. ISSN 0002-9297

2001

Bandelt, Hans-Jürgen, Lahermo, P., Richards, Martin B. and Macaulay, Vincent (2001) Detecting errors in mtDNA data by phylogenetic analysis. International Journal of Legal Medicine, 115 (2). pp. 64-69. ISSN 0937-9827

Capelli, Cristian, Wilson, James F., Richards, Martin, Stumpf, Michael P. H., Gratrix, Fiona, Oppenheimer, Stephen, Underhill, Peter, Pascali, Vincenzo L., Ko, Tsang-Ming and Goldstein, David B. (2001) A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania. The American Journal of Human Genetics, 68 (2). pp. 432-443. ISSN 00029297

Capelli, Cristian, Wilson, James F., Richards, Martin B., Stumpf, Michael P.H., Gratrix, Fiona, Oppenheimer, Stephen, Underhill, Peter, Pascali, Vincenzo L., Ko, Tsang-Ming and Goldstein, David B. (2001) A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania. The American Journal of Human Genetics, 68 (2). pp. 432-443. ISSN 0002-9297

Oppenheimer, Stephen and Richards, Martin (2001) Fast trains, slow boats, and the ancestry of the Polynesian islanders. Science Progress, 84 (3). pp. 157-181. ISSN 00368504

Oppenheimer, Stephen and Richards, Martin B. (2001) Fast Trains, Slow Boats, and the Ancestry of the Polynesian Islanders. Science Progress, 84 (3). pp. 157-181. ISSN 00368504

Oppenheimer, Stephen J. and Richards, Martin (2001) Polynesian origins: Slow boat to Melanesia? Nature, 410 (6825). p. 166. ISSN 00280836

Oppenheimer, Stephen J. and Richards, Martin B. (2001) Polynesian origins: Slow boat to Melanesia? Nature, 410 (6825). pp. 166-167. ISSN 00280836

Richards, Martin and Macaulay, Vincent (2001) The Mitochondrial Gene Tree Comes of Age. American Journal of Human Genetics, 68 (6). pp. 1315-1320. ISSN 1537-6605

Richards, Martin B. (2001) Comment: Foregone Conclusions? In Search of “Papuans” and “Austronesians”. Current Anthropology, 42 (1). pp. 117-118. ISSN 0011-3204

Richards, Martin B. and Macaulay, Vincent (2001) The Mitochondrial Gene Tree Comes of Age. The American Journal of Human Genetics, 68 (6). pp. 1315-1320. ISSN 0002-9297

Torroni, Antonio, Bandelt, Hans-Jurgen, Macaulay, Vincent, Richards, Martin, Cruciani, Fulvio, Rengo, Chiara, Martinez-Cabrera, Vincente, Villems, Richard, Kivisild, Toomas, Metspalu, Ene, Parik, Juri, Tolk, Helle-Vivi, Tambets, Kristina and Forster, Peter (2001) A Signal, from Human mtDNA, of Postglacial Recolonization in Europe. The American Journal of Human Genetics, 69 (4). pp. 844-852. ISSN 00029297

Torroni, Antonio, Bandelt, Hans-Jürgen, Macaulay, Vincent, Richards, Martin B., Cruciani, Fulvio, Rengo, Chiara, Martinez-Cabrera, Vicente, Villems, Richard, Kivisild, Toomas, Metspalu, Ene, Parik, Jüri, Tolk, Helle-Viivi, Tambets, Kristiina, Forster, Peter, Karger, Bernd, Francalacci, Paolo, Rudan, Pavao, Janicijevic, Branka, Rickards, Olga, Savontaus, Marja-Liisa, Huoponen, Kirsi, Laitinen, Virpi, Koivumäki, Satu, Sykes, Bryan, Hickey, Eileen, Novelletto, Andrea, Moral, Pedro, Sellitto, Daniele, Coppa, Alfredo, Al-Zaheri, Nadia, Santachiara-Benerecetti, A. Silvana, Semino, Ornella and Scozzari, Rosaria (2001) A Signal, from Human mtDNA, of Postglacial Recolonization in Europe. The American Journal of Human Genetics, 69 (4). pp. 844-852. ISSN 0002-9297

Torroni, Antonio, Rengo, Chiara, Guida, Valentina, Cruciani, Fulvio, Sellitto, Daniele, Coppa, Alfredo, Calderon, Fernando Luna, Simionati, Barbara, Valle, Giorgio, Richards, Martin B., Macaulay, Vincent and Scozzari, Rosaria (2001) Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? The American Journal of Human Genetics, 69 (6). pp. 1348-1356. ISSN 0002-9297

Wilson, James F., Weiss, Deborah A., Richards, Martin, Thomas, Mark G., Bradman, Neil and Goldstein, David B. (2001) Genetic evidence for different male and female roles during cultural transitions in the British Isles. Proceedings of the National Academy of Sciences, 98 (9). pp. 5078-5083. ISSN 00278424

Wilson, James F., Weiss, Deborah A., Richards, Martin B., Thomas, Mark G., Bradman, Neil and Goldstein, David B. (2001) Genetic evidence for different male and female roles during cultural transitions in the British Isles. Proceedings of the National Academy of Sciences, 98 (9). pp. 5078-5083. ISSN 00278424

2000

Bandelt, Hans-Jurgen, Macaulay, Vincent and Richards, Martin (2000) Median Networks: Speedy Construction and Greedy Reduction, One Simulation, and Two Case Studies from Human mtDNA. Molecular Phylogenetics and Evolution, 16 (1). pp. 8-28. ISSN 1055-7903

Bandelt, Hans-Jürgen, Macaulay, Vincent and Richards, Martin B. (2000) Median Networks: Speedy Construction and Greedy Reduction, One Simulation, and Two Case Studies from Human mtDNA. Molecular Phylogenetics and Evolution, 16 (1). pp. 8-28. ISSN 1055-7903

Richards, Martin B. and Macaulay, Vincent (2000) Genetic data and the colonization of Europe: genealogies and founders. In: Archaeogenetics: DNA and the population prehistory of Europe. McDonald Institute Monographs . Cambridge University Press, Cambridge, UK, pp. 139-151. ISBN 978-1-902937-08-3

Richards, Martin B., Macaulay, Vincent, Hickey, Eileen, Vega, Emilce, Sykes, Bryan, Guida, Valentina, Rengo, Chiara, Sellitto, Daniele, Cruciani, Fulvio, Kivisild, Toomas, Villems, Richard, Thomas, Mark, Rychkov, Serge, Rychkov, Oksana, Rychkov, Yuri, Gölge, Mukaddes, Dimitrov, Dimitar, Hill, Emmeline, Bradley, Dan, Romano, Valentino, Calì, Francesco, Vona, Giuseppe, Demaine, Andrew, Papiha, Surinder, Triantaphyllidis, Costas, Stefanescu, Gheorghe, Hatina, Jiři, Belledi, Michele, Di Rienzo, Anna, Novelletto, Andrea, Oppenheim, Ariella, Nørby, Søren, Al-Zaheri, Nadia, Santachiara-Benerecetti, Silvana, Scozzari, Rosaria, Torroni, Antonio and Bandelt, Hans-Jürgen (2000) Tracing European Founder Lineages in the Near Eastern mtDNA Pool. The American Journal of Human Genetics, 67 (5). pp. 1251-1276. ISSN 0002-9297

Torroni, Antonio, Richards, Martin, Macaulay, Vincent, Forster, Peter, Villems, Richard, Norby, Soren, Savontaus, Marja-Liisa, Huoponen, Kirsi, Scozzari, Rosaria and Bandelt, Hans-Jurgen (2000) mtDNA Haplogroups and Frequency Patterns in Europe. The American Journal of Human Genetics, 66 (3). pp. 1173-1177. ISSN 00029297

Torroni, Antonio, Richards, Martin B., Macaulay, Vincent, Forster, Peter, Villems, Richard, Nørby, Søren, Savontaus, Marja-Liisa, Huoponen, Kirsi, Scozzari, Rosaria and Bandelt, Hans-Jürgen (2000) mtDNA Haplogroups and Frequency Patterns in Europe. The American Journal of Human Genetics, 66 (3). pp. 1173-1177. ISSN 0002-9297

1999

Macaulay, Vincent, Richards, Martin B., Hickey, Eileen, Vega, Emilce, Cruciani, Fulvio, Guida, Valentina, Scozzari, Rosaria, Bonné-Tamir, Batsheva, Sykes, Bryan and Torroni, Antonio (1999) The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs. The American Journal of Human Genetics, 64 (1). pp. 232-249. ISSN 0002-9297

Macaulay, Vincent, Richards, Martin B. and Sykes, Bryan (1999) Mitochondrial DNA recombination-no need to panic. Proceedings of the Royal Society B: Biological Sciences, 266 (1433). pp. 2037-2039. ISSN 0962-8452

Richards, Martin B. and Colson, I. B. (1999) Preliminary report on DNA analysis. In: The Excavation Near Wijnaldum. Reports on Friesland in Roman and Medieval Times, 1 . CRC Press, Rotterdam, Netherlands. ISBN 9789054104889

1998

Lister, A., Kadwell, M., Kaagen, L.M., Richards, Martin B. and Stanley, H.F. (1998) Ancient and modern DNA in a study of horse domestication. Ancient Biomolecules, 2. pp. 267-280. ISSN 1358-6122

Richards, Martin B., Oppenheimer, Stephen and Sykes, Bryan (1998) mtDNA Suggests Polynesian Origins in Eastern Indonesia. The American Journal of Human Genetics, 63 (4). pp. 1234-1236. ISSN 0002-9297

Richards, Martin B. and Sykes, Bryan (1998) Reply to Barbujani et al. The American Journal of Human Genetics, 62 (2). pp. 491-492. ISSN 0002-9297

Richardson, M., Macaulay, Vincent, Bandelt, Hans-Jürgen and Sykes, B.C. (1998) Phylogeography of mitochondrial DNA in western Europe. Annals of Human Genetics, 62 (3). pp. 241-260. ISSN 00034800

Robson, Kathryn J.H., Dolo, Amagana, Hackford, Ian R., Doumbo, Ogobara, Richards, Martin B., Keita, Mamadou M., Sidibe, Touman, Bosman, Andrea, Modiano, David and Crisanti, Andrea (1998) Natural polymorphism in the thrombospondin-related adhesive protein of Plasmodium falciparum. The American Journal of Tropical Medicine and Hygiene, 58 (1). pp. 81-89. ISSN 0002-9637

1997

Colson, I. B., Richards, Martin B., Bailey, J. F., Sykes, B.C. and Hedges, R.E.M. (1997) DNA Analysis of Seven Human Skeletons Excavated from the Terp of Wijnaldum. Journal of Archaeological Science, 24 (10). pp. 911-917. ISSN 03054403

Macaulay, V. A., Richards, Martin B., Forster, P., Bendall, K.E., Watson, E., Sykes, B.C. and Bandelt, Hans-Jurgen (1997) mtDNA mutation rates--no need to panic. American Journal of Human Genetics, 61. pp. 983-986. ISSN 1537-6605

Richards, Martin B., Macaulay, Vincent, Sykes, B., Pettitt, P. B., Forster, P. and Bandelt, Hans-Jürgen (1997) Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool: a reply to Cavalli-Sforza and Minch. The American Journal of Human Genetics, 61 (1). pp. 251-254. ISSN 00029297

Watson, E., Forster, P., Richards, Martin B. and Bandelt, Hans-Jurgen (1997) Mitochondrial footprints of human expansions in Africa. American Journal of Human Genetics, 61. pp. 691-704. ISSN 1537-6605

1996

Bailey, J. F., Richards, Martin B., Macaulay, V. A., Colson, I. B., James, I. T., Bradley, D. G., Hedges, R. E. M. and Sykes, B. C. (1996) Ancient DNA Suggests a Recent Expansion of European Cattle from a Diverse Wild Progenitor Species. Proceedings of the Royal Society B: Biological Sciences, 263 (1376). pp. 1467-1473. ISSN 0962-8452

Sykes, B., Côrte-Real, H. and Richards, Martin B. (1996) Palaeolithic and Neolithic contributions to the European mitochondrial gene pool. In: Molecular Biology and Human Diversity. Society for the Study of Human Biology Symposium Series . Cambridge University Press, Cambridge, UK, pp. 130-140. ISBN 9780521019224

1995

Richards, Martin B. (1995) Mitochondrial DNA and the Frisians. NOWELE: North-Western European Language Evolution, 12. pp. 141-163. ISSN 0108-8416