Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Alecia Willis"'
Autor:
Kwong Wai Choy, Gema Garrido, Rebecca K. Siegert, Yoel Hirsch, Andrew R. Grant, Yu Lu, Alecia Willis, Hatice Duzkale, Lisa Schimmenti, Xue Zhong Liu, Krista Moyer, Hela Azaiez, Rebecca Mar-Heyming, Richard Smith, Narasimhan Nagan, Christine Lo, Xinhua Hu, Ahmad N. Abou Tayoun, Hyunseok Kang, Sarah E. Hemphill, Cynthia C. Morton, Yan Zhang, Yen-Fu Cheng, Huijun Yuan, Kevin T. Booth, Anne Giersch, Moshe Frydman, Tatsuo Matsunaga, Jun Shen, John H. Greinwald, Tzvi Weiden, Saurav Guha, Ye Cao, Hideki Mutai, Yukun Zeng, Arti Pandya, John J. Alexander, Lina Basel-Salmon, Marina T. DiStefano, Margaret A. Kenna, Zippora Brownstein, Ignacio del Castillo, Kejian Zhang, Bella Davidov, Sami S. Amr, Minjie Luo, Karen B. Avraham, Andrea M. Oza, Mustafa Tekin, Miguel A. Moreno-Pelayo, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required f
Autor:
Gwenaëlle Collod-Béroud, Narasimhan Nagan, Christine Toulas, Marcia Eisenberg, Crystal M. Buell, Dominique Stoppa-Lyonnet, Stanley Letovsky, Hagay Sobol, Camille R. Nery, Céline Garrec, David Salgado, Corey D. Braastad, Danièle Muller, Charles M. Strom, Ghadi Rai, Olga M. Sinilnikova, Paul Vilquin, Angela Love, Christophe Béroud, Sandrine M. Caputo, Olivia Beaudoux, Yves-Jean Bignon, Florence Coulet, Myriam Bronner, Izabela Karbassi, Sarab Lizard, Dominique Vaur, Nicolas Derive, Brigitte Bressac-de Paillerets, Françoise Révillion, Edwin Trautman, Christina DiVincenzo, Katelyn S. Weymouth, Nicolas Sevenet, Christopher Elzinga, Alecia Willis, Claude Houdayer
Publikováno v:
Human Mutation. 37:1318-1328
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of
Autor:
Patricia A. Ward, Wendy Alcaraz, Richard A. Gibbs, Weimin He, Pengfei Liu, Mir Reza Bekheirnia, Christine M. Eng, Alicia Hawes, Alicia Braxton, James R. Lupski, Jennifer Scull, Christian J. Buhay, Theodore Chiang, Megan Landsverk, Arthur L. Beaudet, Fan Xia, Yan Ding, Yaping Yang, Joke Beuten, Matthew N. Bainbridge, Alecia Willis, Magalie S. Leduc, Donna M. Muzny, Zhiyv Niu, William J. Craigen, Eric Boerwinkle, Jing Zhang, Ankita Patel, Asbjørg Stray-Pedersen, Narayanan Veeraraghavan, Hong Cui, Shu Wen, Richard E. Person, Min Wang, Jeffrey G. Reid, Magdalena Walkiewicz, Sharon E. Plon
Publikováno v:
Obstetrical & Gynecological Survey. 70:164-167
Autor:
Qin Sun, Yaping Yang, Carlos A. Bacino, Alan E Schlesinger, Alecia Willis, Brendan Lee, Matthew T. Hardison, Marcus J. Miller, Lindsay C. Burrage, Pengfei Liu, Sarah H. Elsea, Jennifer E. Posey
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typicall
Autor:
Zhiyv Niu, Min Wang, Yan Ding, Patricia A. Ward, Mir Reza Bekheirnia, Richard A. Gibbs, Alicia Braxton, Jeffrey G. Reid, Christine M. Eng, Fan Xia, Arthur L. Beaudet, Matthew N. Bainbridge, Yaping Yang, James R. Lupski, Magalie S. Leduc, Joke Beuten, Richard E. Person, Alecia Willis, Matthew T. Hardison, Donna M. Muzny, Peter Pham, Jennifer Scull, Sharon E. Plon, Amelia Kirby
Publikováno v:
New England Journal of Medicine. 369:1502-1511
Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders.We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a cer
Autor:
James R. Lupski, Philip E. Putnam, Christine M. Eng, Zhiyv Niu, Matteo Vatta, Katherine G. Spoonamore, Alecia Willis, Ping Fang
Publikováno v:
American Journal of Medical Genetics Part A. 161:3182-3186
Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65–70% of cases. Most CHD7 mutations arise de novo, and no mutations affecting exon-7 hav
Publikováno v:
Prenatal Diagnosis. 32:315-320
Multiplex ligation-dependent probe amplification (MLPA) is a recent technique for the relative quantitation of up to 40 to 45 nucleic acid targets. Due to its relative simplicity, low cost, and availability of laboratory-developed and more than 300 c
Autor:
Alecia Willis, Hayk Hovhannisyan, Wei Song, Narasimhan Nagan, Ildiko Thibodeau, Ekaterina Bogdanova, Sabrina A. Gardner, Amanda Natalizio, Wenjie Chen, Stanley Letovsky, Katelyn S. Weymouth
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(8)
We evaluated the Exome Aggregation Consortium (ExAC) database as a control cohort to classify variants across a diverse set of genes spanning dominant and recessively inherited disorders. The frequency of pathogenic variants in ExAC was compared with
Autor:
Valérie Drouin-Garraud, Simona Orcesi, Audrey Guilmatre, Caroline Espil-Taris, Lionel Van Maldergem, Luisa Bonafé, Dominique Campion, David Valle, Thierry Frebourg, Vassili Valayannopoulos, Eric Le Galloudec, Patricia Blanchet, Cyril Mignot, Vincent des Portes, Bernard Echenne, Christine Ioos, Claudia Izzi, Hélène Maurey, Gabriella Di Rosa, Solenn Legallic, Jodi D. Hoffman, Alexandra Afenjar, Alice Goldenberg, Gary Steel, Alecia Willis, Agathe Roubertie, Agnès Guët
Publikováno v:
Human Mutation
Human Mutation, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
Human Mutation, Wiley, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
Human Mutation, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
Human Mutation, Wiley, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
International audience; Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/
Publikováno v:
Amino Acids. 35:673-679
Schizophrenia is a common, devastating neuropsychiatric disorder whose etiology is largely unknown. Multiple studies in humans and in mouse and fly models suggest a role for proline and PRODH, the gene encoding the first enzyme in the pathway of prol