Marie T. Greally

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise Brueton, P. Cox et al. · The American Journal of Human Genetics · 2006 · 162 citations · Full text

Developmental Biology, Signal Transduction, Mendelian Disorder +7

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak et al. · Human Molecular Genetics · 2009 · 139 citations · Full text

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Fernando Gómez-Herreros, Janneke Schuurs-Hoeijmakers, Mark McCormack et al. · Nature Genetics · 2014 · 134 citations · Full text

Molecular Neuroscience, Molecular Regulation, Natural Sciences +11

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers et al. · Journal of Medical Genetics · 2013 · 127 citations · Full text

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

Peter H. Byers, Madeleine Duvic, Mary Atkinson et al. · American Journal of Medical Genetics · 1997 · 126 citations · Full text