P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield

Authors: Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Margaret Adam, Ian Glass, Tara Wenger

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101090- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400236X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/ce1045658d2b423083272ba7ecf00c84

P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital

Authors: Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Margaret Adam, Ian Glass, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Alexandra Keefe, Tara Wenger

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101386- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005326; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/7472b8aa0b3645b79bb7072c118de9bd

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Authors: Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

Source: Rare, Vol 2, Iss , Pp 100040- (2024)

Subject Terms: UQCRFS1, GJA8, mitochondrial complex III, alopecia, cataracts, rare disease, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950008724000231; https://doaj.org/toc/2950-0087

Access URL: https://doaj.org/article/93c294e07b004efca6d7414223356227

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Authors: Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis

Source: Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1046-1053 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/7c78457d1e624c4ca4136b621b913e02

P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants

Authors: Jennifer Cech, Danny Miller, Cate Paschal, Bri Dingmann, Anna Scott, Jenny Thies, Maria Mills, J. Lawrence Merritt, II, Ghayda Mirzaa, James Bennett, Ian Glass, Darci Sternen, Heather Mefford

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100485- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004855; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6a15aec842324c64950000267cefe65b

Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

Authors: Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa

Source: Children, Vol 9, Iss 5, p 671 (2022)

Subject Terms: pulmonary vein stenosis, PIK3CA, alpelisib, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/9/5/671; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/bfde76c05e6142718436df2f050cd0f6