Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Amanda R, Clause"'
Autor:
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 9, Pp 2268-2276 (2024)
Abstract Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness,
Externí odkaz:
https://doaj.org/article/d476e18b181c4fa5a1595ad8584a2ce4
Autor:
Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease C
Externí odkaz:
https://doaj.org/article/4617a18d8ea746a9a7fa08a4e35b6389
Autor:
Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001
https://doi.org/10.1016/j.gim.2022.05.001
Autor:
Julie P. Taylor, Alka Malhotra, Nicole J. Burns, Amanda R. Clause, Carolyn M. Brown, Brendan T. Burns, Anjana Chandrasekhar, Zinayida Schlachetzki, Maren Bennett, Erin Thorpe, Ryan J. Taft, Denise L. Perry, Alison J. Coffey
Publikováno v:
Human Mutation.
The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is designed to facilitate connec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718c6dcd839e68b248188f0be12c8b5d
https://doi.org/10.1002/humu.24356
https://doi.org/10.1002/humu.24356
Autor:
Kayla J, Muirhead, Amanda R, Clause, Zinayida, Schlachetzki, Holly, Dubbs, Denise L, Perry, R Tanner, Hagelstrom, Ryan J, Taft, Adeline, Vanderver
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including heari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6fc61c19ce65632c6e463dec057fce38
https://pubmed.ncbi.nlm.nih.gov/34737199
https://pubmed.ncbi.nlm.nih.gov/34737199
Autor:
Mari Mori, Amanda R. Clause, Kristen Truxal, R. Tanner Hagelstrom, Kandamurugu Manickam, Stephen G. Kaler, Vinay Prasad, Jonathan Windster, Maria M. Alves, Carlo Di Lorenzo
Publikováno v:
JPGN Reports. 3:e258
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c9ec2e806274823390c762ca9c24589
https://doi.org/10.1097/pg9.0000000000000258
https://doi.org/10.1097/pg9.0000000000000258
Autor:
Elizabeth A. Capaldi, Amanda R. Clause
Publikováno v:
Journal of Experimental Zoology Part A: Comparative Experimental Biology. :965-973
Caudal autotomy, or the voluntary self-amputation of the tail, is an anti-predation strategy in lizards that depends on a complex array of environmental, individual, and species-specific characteristics. These factors affect both when and how often c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339a22f847f4c80115211773836d22ca
https://doi.org/10.1002/jez.a.346
https://doi.org/10.1002/jez.a.346