Danielle C. Lynch

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 213 citations · Full text

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber et al. · Nature Communications · 2014 · 78 citations · Full text

Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

Danielle C. Lynch, David A. Dyment, Lijia Huang et al. · Human Mutation · 2012 · 52 citations

Short Stature, Genetics, Molecular Biology +17

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna et al. · Nature Communications · 2021 · 50 citations · Full text

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Madeleine Tooley, Danielle C. Lynch, François P. Bernier et al. · American Journal of Medical Genetics Part A · 2016 · 30 citations