Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Autor: Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)

Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of

Externí odkaz: https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2

Rapid genome sequencing identifies a novel de novo

Autor: Hayley M, Reynolds, Ting, Wen, Andrew, Farrell, Rong, Mao, Barry, Moore, Steven E, Boyden, Pinar, Bayrak-Toydemir, Thomas J, Nicholas, Shawn, Rynearson, Carson, Holt, Christine, Miller, Katherine, Noble, Dawn, Bentley, Rachel, Palmquist, Betsy, Ostrander, Stephanie, Manberg, Joshua L, Bonkowsky, Brian J, Shayota, Sabrina Malone, Jenkins

Publikováno v: Cold Spring Harbor molecular case studies. 8(7)

Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identificat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b121e8945c983c80ed67587e4307c717
https://pubmed.ncbi.nlm.nih.gov/36379720

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

Autor: Reem Kais Jan, Daniel L. Kastner, Francesco Boin, Chris T. Derk, Kathleen D. Kolstad, Vivien Hsu, Heather Gladue, Virginia D. Steen, Avram Goldberg, Paula S. Ramos, Victoria K. Shanmugam, Dinesh Khanna, Lorinda Chung, Ayo P. Doumatey, Richard M. Silver, Elana J. Bernstein, Amy R. Bentley, Pravitt Gourh, Nadia D. Morgan, Ami A. Shah, Maureen D. Mayes, Lesley Ann Saketkoo, Fredrick M. Wigley, Steven E. Boyden, Brynn Kron, Elena Schiopu, Benjamin D. Korman, Lindsey A. Criswell, Peter J. Steinbach, S. Louis Bridges, Suzanne Kafaja, Thomas A. Medsger, Daniel Shriner, James C. Mullikin, Settara C. Chandrasekharappa, Jessica K. Gordon, Robyn T. Domsic, Elaine F. Remmers, John Varga, Adebowale Adeyemo, Sarah A. Safran, Theresa Alexander, Marcin Trojanowski, Charles N. Rotimi

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 1

Significance HLA alleles have previously been implicated with scleroderma risk, but, in this study, using a European American ancestral cohort and a newly recruited large cohort of African Americans, we comprehensively define the HLA alleles and amin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a93c337973c75c6b198b9d9bb23399b
https://doi.org/10.1073/pnas.1906593116

High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci.

Autor: Steven E Boyden, Louis M Kunkel

Publikováno v: PLoS ONE, Vol 5, Iss 8, p e12432 (2010)

Human lifespan is approximately 25% heritable, and genetic factors may be particularly important for achieving exceptional longevity. Accordingly, siblings of centenarians have a dramatically higher probability of reaching extreme old age than the ge

Externí odkaz: https://doaj.org/article/b53252e481834700b58581c2863b3c56

Vibratory Urticaria Associated with a Missense Variant in ADGRE2

Autor: Linda M. Scott, Glenn Cruse, Daniel L. Kastner, Kenneth K. Kidd, André Mégarbané, Ana Olivera, Andrew J. Pakstis, Myrna Medlej-Hashim, James C. Mullikin, A. Robin Eisch, Hirsh D. Komarow, R. Daniel Long, Avanti Desai, Dean D. Metcalfe, Steven E. Boyden, Michael L. Young, Eliane Chouery, Chyi-Chia Richard Lee, Colleen Satorius, Hyejeong Bolan

Publikováno v: New England Journal of Medicine. 374:656-663

Patients with autosomal dominant vibratory urticaria have localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. We identified a previously unk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3444f42cfec74e14993099c8374ab667
https://doi.org/10.1056/nejmoa1500611