Results 221 to 230 of about 207,257 (328)

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]

Mol Genet Genomic Med
Kamps R, Martens H, de Koning B, Smeets B, van Geel M.   +4 more
europepmc   +1 more source

Exome sequencing generates high quality data in non-target regions [PDF]

, 2012
Yan Guo, Jirong Long, Jing He, Chung-I Li, Qiuyin Cai, Xiao‐Ou Shu, Wei Zheng, Chun Li   +7 more
openalex   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis. [PDF]

Orphanet J Rare Dis
Zhou W, Li Y, Zheng H, He M, Zhang M, Chen Q, Situ C, Wang Y, Zhang T, Chen K, Dai J, Meng S, Liu X, Wu A, Liu Y, Xu KF, Tian X, Zhang X.   +17 more
europepmc   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

Whole-Exome Sequencing Analysis of Inflammatory Bowel Disease-Associated Serrated Dysplasia. [PDF]

Int J Mol Sci
Balajthy Z, Almási S, Lantos T, Kuthi L, Deftereos G, Choi WT, Sejben A.   +6 more
europepmc   +1 more source

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

, 2011
Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala   +8 more
openalex   +2 more sources

Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin. [PDF]

Kidney Int Rep
de Saint Gilles D, Quirin N, Lombardi Y, Lamy T, Butté Y, Biron A, Dancer M, Raymond L, Mesnard L, Doreille A.   +9 more
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia [PDF]

, 2012
Marta Futema, Vincent Plagnol, Ros Whittall, H. A. W. Neil, Steve E. Humphries   +4 more
openalex   +1 more source