Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Julia Platt, Megan H. Hawley, Gabi Richard, K Thomson, Hana Zouk, James S. Ware, Wendy K. Chung, Hui Mei, Roddy Walsh, Birgit Funke, Ashley Ryan, Matthew S. Lebo, Melissa A. Kelly, Naif A.M. Almontashiri, John Garcia, Daniela Macaya, Leslie G. Biesecker, Matteo Vatta, Matthew T. Wheeler, Heather Mason-Suares, Theresa A. Grebe, Natalie Berger
Publikováno v:
Hum Mutat
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenici
Publikováno v:
Human Mutation. 39:1525-1530
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendation
Autor:
Tina Pesaran, Heidi L. Rehm, Marina T. DiStefano, Ahmad N. Abou Tayoun, Leslie G. Biesecker, Steven M. Harrison, Andrea M. Oza
Publikováno v:
Human Mutation. 39:1517-1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. Howev
Publikováno v:
Hum Mutat
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitativ
Autor:
Alexander Greiner, Peter A. Rubenstein, Jessica L. Maiers, Kuo-Kuang Wen, Leslie G. Biesecker, Kris A. DeMali, Julie C. Sapp, Jennifer J. Johnston, Melissa McKane, Kim M. Keppler-Noreuil
Publikováno v:
Human Mutation. 34:1242-1249
Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrom
Publikováno v:
Human mutation, 33(5), 781-786. Wiley-Liss Inc.
In 2005, the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project, which came to be known as the Elements of Mo
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
Autor:
James R. Lupski, Marina L. Kennerson, Ya-Ming Hou, Stephan Züchner, Heather M. McLaughlin, Garth A. Nicholson, Leslie G. Biesecker, Yi-Chung Lee, Kevin Talbot, Anthony Antonellis, Reiko Sakaguchi, William Giblin, Jeffery M. Vance, Thomas E. Wilson
Publikováno v:
HUMAN MUTATION. 33(1)
Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been imp
Autor:
Leslie G. Biesecker
Publikováno v:
Human Mutation. 33:1501-1502
The accurate determination and dissemination of the causality or pathogenicity of human DNA sequence variants is a crucial function of genetics journals. Published reports of pathogenic mutations are a common source of information for mutation databa
Autor:
Leslie G. Biesecker
Publikováno v:
Human Mutation. 34:v-v