Publications:

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances

French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2022-07-14

Variant appearance in text: SCN1A: 4489G>A; Asp1497Asn

PubMed Link: 35586607

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Intensive Care Medicine

French, Courtney E CE; Delon, Isabelle I; Dolling, Helen H; Sanchis-Juan, Alba A; Shamardina, Olga O; Mégy, Karyn K; Abbs, Stephen S; Austin, Topun T; Bowdin, Sarah S; Branco, Ricardo G RG; Firth, Helen H; , ; , ; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2019-05

Variant appearance in text: SCN1A: 4489G>A

PubMed Link: 30847515

Variant Present in the following documents:

• 134_2019_5552_MOESM1_ESM.pdf

View BVdb publication page