Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: RYR1: 14344G>A; Gly4782Arg
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: RYR1: G4782R; rs746538672
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: RYR1: 14344G>A; Gly4782Arg
Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.
Cell Calcium
Xu, Le L; Harms, Frederike L FL; Chirasani, Venkat R VR; Pasek, Daniel A DA; Kortüm, Fanny F; Meinecke, Peter P; Dokholyan, Nikolay V NV; Kutsche, Kerstin K; Meissner, Gerhard G
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Genome Medicine
Normand, Elizabeth A EA; Braxton, Alicia A; Nassef, Salma S; Ward, Patricia A PA; Vetrini, Francesco F; He, Weimin W; Patel, Vipulkumar V; Qu, Chunjing C; Westerfield, Lauren E LE; Stover, Samantha S; Dharmadhikari, Avinash V AV; Muzny, Donna M DM; Gibbs, Richard A RA; Dai, Hongzheng H; Meng, Linyan L; Wang, Xia X; Xiao, Rui R; Liu, Pengfei P; Bi, Weimin W; Xia, Fan F; Walkiewicz, Magdalena M; Van den Veyver, Ignatia B IB; Eng, Christine M CM; Yang, Yaping Y
Publication Date: 2018-09-28
Variant appearance in text: RYR1: 14344G>A; G4782R
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenatal Diagnosis
Stals, Karen L KL; Wakeling, Matthew M; Baptista, Júlia J; Caswell, Richard R; Parrish, Andrew A; Rankin, Julia J; Tysoe, Carolyn C; Jones, Garan G; Gunning, Adam C AC; Lango Allen, Hana H; Bradley, Lisa L; Brady, Angela F AF; Carley, Helena H; Carmichael, Jenny J; Castle, Bruce B; Cilliers, Deirdre D; Cox, Helen H; Deshpande, Charu C; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Fry, Andrew E AE; Fryer, Alan A; Holder, Muriel M; Homfray, Tessa T; Kivuva, Emma E; McKay, Victoria V; Newbury-Ecob, Ruth R; Parker, Michael M; Savarirayan, Ravi R; Searle, Claire C; Shannon, Nora N; Shears, Deborah D; Smithson, Sarah S; Thomas, Ellen E; Turnpenny, Peter D PD; Varghese, Vinod V; Vasudevan, Pradeep P; Wakeling, Emma E; Baple, Emma L EL; Ellard, Sian S
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE