Marta Szybowska

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa et al. · Circulation · 2018 · 370 citations · Full text

Life Sciences, Cardiology, Genetics +13

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond et al. · The American Journal of Human Genetics · 2013 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17