P526: Insurance access to genetic testing: Experiences in the Midwest

Autor: April Hall, Jessica Scott Schwoerer

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101425- (2024)

Externí odkaz: https://doaj.org/article/87e379307ee54b5481cc571b06efc320

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

Autor: Max Frenkel, April Hall, M. Stephen Meyn, Carol A. Diamond

Publikováno v: Platelets, Vol 34, Iss 1 (2023)

Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case o

Externí odkaz: https://doaj.org/article/06cf91f3484d47a28c35620d6f40d21e

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Autor: Keith Franke, Jennie Vagher, Julie Boyle, April Hall, Kelcy Smith‐Simmer

Publikováno v: Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)

Abstract Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene. FH pathogenic variant carriers are at a

Externí odkaz: https://doaj.org/article/d3518d1ed7004f26a4eecc4e70dd0cad

An exploration of genetic counseling information needs and information‐seeking behaviors

Autor: April Hall, Elizabeth M. Petty, Amy E. Donahue

Publikováno v: Journal of Genetic Counseling. 29:816-827

Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information availabl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95c7fe6db85d95f100589cc11b89ac6
https://doi.org/10.1002/jgc4.1210

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Autor: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson

Publikováno v: Am J Med Genet A

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257