Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341
https://doi.org/10.1101/2022.06.23.497341
Autor:
Emma H. Wilcox, Heidi L. Rehm, Ahmad N. Abou Tayoun, Mahdi Sarmady, Leslie G. Biesecker, Matthew Wright, Bryan Wulf
BackgroundIn silicoevidence is important to consider when interpreting genetic variants. According to the ACMG/AMP,in silicoevidence is applied at the supporting strength level using the PP3 and BP4 criteria, for pathogenic and benign evidence, respe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cfdbb54ebf824e3af9ab64ceaac2848
https://doi.org/10.1101/2021.08.09.455612
https://doi.org/10.1101/2021.08.09.455612
Autor:
Jordan J. Feld, Pyoeng Gyun Choe, Rex L Chrisholm, Joselin M Vargas, Vibha Vij, Nathan Erdmann, Mary Carrington, A Rouf Banday, Sharon A. Savage, Michael G. Ison, Duane R. Wesemann, Anurag Verma, Leslie G. Biesecker, Euijin Chang, Chia-Han Lee, Gary S. Firestein, Adam J. Gehring, Lisa Mirabello, Robert J. Kreitman, Timothy J Ring, Michael J Peluso, Bruce R. Korf, Hogune Im, Yu Zhang, Daniel J. Rader, Megan L. Stanifer, Marylyn D. Ritchie, Jennifer A. Pacheco, Muhammad Atif Zahoor, Hanaisa P Sant Anna, Greg Barsh, Steeve Boulant, Meredith Yeager, Brooke Rosenbloom, Ludmila Prokunina-Olsson, David T. Redden, David L. Boyle, Olusegun O Onabajo, Evangelos Andreakos, Michelle Ho, Oscar Florez-Vargas, Heather Spencer Feigelson, Eleni Siouti, Amy Hutchinson, Xu G. Yu, Vasiliki Triantafyllia, Brenen W Papenberg, Andrea N. Burnett-Hartman, Jeffrey C. Edberg, Clifton L. Dalgard, Steven M. Holland, Evgeny Arons, Stephen J. Chanock, Hong Bin Kim
Publikováno v:
medRxiv
article-version (status) pre
article-version (number) 1
article-version (status) pre
article-version (number) 1
Genomic regions have been associated with COVID-19 susceptibility and outcomes, including the chr12q24.13 locus encoding antiviral proteins OAS1-3. Here, we report genetic, functional, and clinical insights into genetic associations within this locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dec1a13dc7d8e808d3b9532e357ddc3
https://doi.org/10.1101/2021.07.09.21260221
https://doi.org/10.1101/2021.07.09.21260221
Autor:
Robert T. Dirksen, Phil M. Hopkins, Louis A. Saddic, Henry Rosenberg, Stephen G. Gonsalves, Nyamkhishig Sambuughin, Sheila Riazi, Leslie G. Biesecker, Jennifer J. Johnston, Richa Saxena, James L. Weber, Kathryn M. Stowell, Thierry Girard
PurposePrevention of malignant hyperthermia (MH) requires an understanding of RYR1 variant pathogenicity to assess the risk of exposure to triggering agents. Personalized medicine, especially secondary findings and eventually genomic screening, will
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5450551c1290c5106fd868f66907fbe
https://doi.org/10.1101/2020.11.29.402768
https://doi.org/10.1101/2020.11.29.402768
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in AKT1. Individuals may develop a range of skin, bone, and soft tissue overgrowth leading to functional impairment and disfigurement. Therapy for this disorder
Autor:
Matthew S. Edwards, Sheridan O'Donnell, Julia Kazakin, Leslie G. Biesecker, Paula Doherty, Brian Schwartz, Thomas MacDougall, Kate Tith
Publikováno v:
Cold Spring Harbor Molecular Case Studies
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the infe
Autor:
Ahmad N. Abou Tayoun, Leslie G. Biesecker, Tina Pesaran, Marina T. DiStefano, Steven M. Harrison, Andrea M. Oza, Heidi L. Rehm
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria. This guideline includes a pathogenic criterion (PVS1) for predicted loss of function v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547fc6e57cdd999dee38ea84a23e1d21
Autor:
Hatice Ozel Abaan, Lori L. Bonnycastle, Nisc Comparative Sequencing Program, Francis S. Collins, Jamie K. Teer, Natsuyo Aoyama, Leslie G. Biesecker, Eric D. Green, Peter S. Chines, Amy J. Swift, Elliott H. Margulies, Thomas J. Albert, Nancy F. Hansen, James C. Mullikin
Publikováno v:
Genome Research. 20:1420-1431
Massively parallel DNA sequencing technologies have greatly increased our ability to generate large amounts of sequencing data at a rapid pace. Several methods have been developed to enrich for genomic regions of interest for targeted sequencing. We
Autor:
John B. Wallingford, Chanjae Lee, Molly M. Crenshaw, Ingrid M. Wentzensen, Melissa A. Parisi, Jennifer J. Johnston, Leslie G. Biesecker, Julie C. Sapp, Jeffrey M. Gross
Publikováno v:
Molecular Case Studies. 3:a001321
Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral–facial–digital, and Pallister–Hall syndromes including bra