A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes by Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen

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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene by Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

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Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda by Esther Uwibambe, Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze, Thashi Bharadwaj, Carmen de Kock, Isabelle Schrauwen, Suzanne M. Leal, Leon Mutesa, Ambroise Wonkam

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Competition of Escherichia coli DNA polymerases I, II and III with DNA Pol IV in stressed cells. by P J Hastings, Megan N Hersh, P C Thornton, Natalie C Fonville, Andrew Slack, Ryan L Frisch, Mellanie P Ray, Reuben S Harris, Suzanne M Leal, Susan M Rosenberg

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Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali by Abdoulaye Yalcouyé, Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya, Thashi Bharadwaj, Rachel Latanich, Kevin Esoh, Cesar A. Fortes-Lima, Carmen de Kock, Mario Jonas, Alassane dit Baneye Maiga, Cheick A.K. Cissé, Moussa A. Sangaré, Cheick O. Guinto, Guida Landouré, Suzanne M. Leal, Ambroise Wonkam

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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. by Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

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Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. by Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters

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