Publications:

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Genomics

Holborn, Megan A MA; Ford, Graeme G; Turner, Sarah S; Mellet, Juanita J; van Rensburg, Jeanne J; Joubert, Fourie F; Pepper, Michael S MS

Publication Date: 2022-10-18

Variant appearance in text: CP: 2522C>T

PubMed Link: 36270382

Variant Present in the following documents:

• mmc11.xlsx, sheet 1

View BVdb publication page

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: CP: 2522C>T; T841M

PubMed Link: 34531397

Variant Present in the following documents:

• 41525_2021_238_MOESM1_ESM.pdf

View BVdb publication page