Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly-Reference-Cited by-同舟云学术

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly

Published:2019-10-02 Issue:1 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Meloche Jolyane¹²^ORCID,Brunet Vanessa²,Gagnon Pierre‐Alexandre¹²,Lavoie Marie‐Ève¹²,Bouchard Jean‐Benoît³,Nadaf Javad⁴,Majewski Jacek⁴,Morin Charles³,Laprise Catherine¹²

Affiliation:

1. Centre intersectoriel en santé durable Université du Québec à Chicoutimi Saguenay QC Canada

2. Département des Sciences Fondamentales Université du Québec à Chicoutimi Saguenay QC Canada

3. Centre de Santé et de Services Sociaux de Chicoutimi Saguenay QC Canada

4. Department of Human Genetics McGill University and Genome Quebec Innovation Centre Montreal QC Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.992

Reference26 articles.

1. (UW‐CMG) N. N. U. o. W.‐C. f. M. G. Geno2MP.http://geno2mp.gs.washington.edu05/2018.

2. One hundred million years of interhemispheric communication: the history of the corpus callosum

3. A method and server for predicting damaging missense mutations

4. Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

5. The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination

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