Publications:

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

Publication Date: 2018-01

Variant appearance in text: RYR1: Ser3074Phe

PubMed Link: 29096039

Variant Present in the following documents:

• Main text
• PD-38-33.pdf
• PD-38-33-s002.xlsx, sheet 1

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

European Journal Of Human Genetics : Ejhg

Ellard, Sian S; Kivuva, Emma E; Turnpenny, Peter P; Stals, Karen K; Johnson, Matthew M; Xie, Weijia W; Caswell, Richard R; Lango Allen, Hana H

Publication Date: 2015-03

Variant appearance in text: RYR1: 9221C>T; Ser3074Phe

PubMed Link: 24961629

Variant Present in the following documents:

• Main text

View BVdb publication page