Danielle C. Lynch

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

Lijia Huang, D. Lacombe, F. Bernier, 2013, Human mutation.

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

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Fifty years of recognizable patterns of human malformation: Insights and opportunities

A. Innes, Danielle C. Lynch, 2021, American journal of medical genetics. Part A.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

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

E. Zackai, M. Brudno, K. Boycott, 2014, Nature Communications.