Genotype first: Clinical genomics research through a reverse phenotyping approach

Autor: Caralynn M. Wilczewski, Justice Obasohan, Justin E. Paschall, Suiyuan Zhang, Sumeeta Singh, George L. Maxwell, Morgan Similuk, Tyra G. Wolfsberg, Clesson Turner, Leslie G. Biesecker, Alexander E. Katz

Publikováno v: Am J Hum Genet

Although genomic research has predominantly relied on phenotypic ascertainment of individuals affected with heritable disease, the falling costs of sequencing allow consideration of genomic ascertainment and reverse phenotyping (the ascertainment of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d4800cd54f3dca0ce289922c3532b9
https://doi.org/10.1016/j.ajhg.2022.12.004

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Autor: Bruce R. Korf, Alexander E. Katz, Anne Slavotinek, Jessica F. Wakelee, Katherine E. Donohue, Catherine Gooch

Publikováno v: Clin Genet

The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics profe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89388d5ea32b63e8214026aa9ccd29c8
https://doi.org/10.1111/cge.13917

Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

Autor: Roberta L. DeBiasi, Peter F. Wright, Tina Romeo, Pamela L. Schwartzberg, Kalpana Manthiram, Daniel L. Kastner, Polly J. Ferguson, Pamela A. Mudd, Julie Le, Kathryn M. Edwards, Fatma Dedeoglu, Gary S. Marshall, Anne Jones, Selcan Demir, Alexander E. Katz, Henry M. Feder, Yuriy Stepanovskiy, Amanda K. Ombrello, Maranda Lawton, Ahmet Gül, Beverly K. Barham, Karyl S. Barron, Sivia K. Lapidus, Elaine F. Remmers, Seza Ozen, Greg R. Licameli, Silvia Preite, Olcay Y Jones, Settara C. Chandrasekharappa, Hemalatha Srinivasalu

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America

Significance In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk loci at IL12A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13768e193470e87b0f674e1800c72e56
https://doi.org/10.1073/pnas.2002051117

A Novel Recurrent

Autor: Julie, Richer, Hannah L, Hill, Yu, Wang, Min-Lee, Yang, Kristina L, Hunker, Jamie, Lane, Susan, Blackburn, Dawn M, Coleman, Jonathan, Eliason, Guillaume, Sillon, Maria-Daniela, D'Agostino, Prasad, Jetty, François-Pierre, Mongeon, Anne-Marie, Laberge, Stephen E, Ryan, Natalia, Fendrikova-Mahlay, Thais, Coutinho, Michael R, Mathis, Matthew, Zawistowski, Stanley L, Hazen, Alexander E, Katz, Heather L, Gornik, Chad M, Brummett, Goncalo, Abecasis, Ingrid L, Bergin, James C, Stanley, Jun Z, Li, Santhi K, Ganesh

Publikováno v: Arterioscler Thromb Vasc Biol

OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos Syndrome (EDS) and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. Monogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d9d5781e8280372fe6e88f26af6da153
https://pubmed.ncbi.nlm.nih.gov/32938213

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Autor: Mohammad Othman, Gregory L. Skuta, Laurel Wiinikka-Buesser, Jun Li, Lev Prasov, Louise C. Pyle, Alexander E. Katz, Biliana O. Veleva-Rotse, S. A. Sullivan, Sayoko E. Moroi, Robert A. Sisk, Sally A. Camper, Ayse Bilge Ozel, Laryssa A. Huryn, Sarah Sheskey, James Eadie, Frank W. Rozsa, Cheng-mao Lin, Michael Boehnke, Julia E. Richards, Jill E. Urquhart, Michelle L. Brinkmeier, Sarah J. Garnai, Steven M. Archer, Tomas S. Aleman, Robert B. Hufnagel, Ben Emery, Hemant Pawar, Graeme C.M. Black

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130

Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4165f7c273e641895a3c0d2d0a5d02cb
https://doi.org/10.1371/journal.pgen.1008130