Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

Autor: Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid

Externí odkaz: https://doaj.org/article/6d3ee0c27468471986227a368547920f

Cover

Autor: Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann

The cover image is based on the Original Article Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al., https://doi.org/10.1002/mgg3.1053. [Image: see te

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283b3feb4366124461802cc7aae1119
https://europepmc.org/articles/PMC7005609/

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Autor: Nicola Whiffin, Steven M. Harrison, Jodie Ingles, K Thomson, Roddy Walsh, Kate M. Orland, Matthew J Thomas, Mitchell W Dillon, Ana Morales, Katherine Spoonamore, Daniela Macaya, Ray E. Hershberger, Zena T. Wolf, Birgit Funke, Lisa M. Vincent, Hugh Watkins, Gabriele Richard, J. Peter van Tintelen, Arjun K. Manrai, James S. Ware, Christopher Semsarian, Colleen Caleshu, Eden Haverfield, Jillian G. Buchan, Melissa A. Kelly, Stuart A. Cook, Jan D. H. Jongbloed, John Garcia

Publikováno v: Genetics in Medicine, 20(3), 351-359. Nature Publishing Group
Genetics in medicine, 20, 351-359. Lippincott Williams and Wilkins
Genetics in Medicine

Purpose Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Associatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffca2a73b1dab5162be540c2c091d258
https://doi.org/10.1038/gim.2017.218

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Autor: Matthew S. Lebo, Mitchell W Dillon, Leora Witkowski, Elissa Murphy, Heather Mason-Suares

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24d3379ac0d22242e9d37a6da15e465
https://pubmed.ncbi.nlm.nih.gov/32107864

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Autor: Karen W. Gripp, Heather Mason-Suares, Jennifer A. Lee, Brandon J. Cushman, Andrew R. Grant, Martin Zenker, Lisa M. Vincent, Bruce D Gelb, Hélène Cavé, Mitchell W Dillon, Katherine A. Rauen

The RASopathies are a complex group of diseases regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy conditions. Us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73bf31fc4e52656ff46e2c969628f2e