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 · 582 citations · Full text

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa et al. · Circulation · 2018 · 355 citations · Full text

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 · 128 citations · Full text

Biochemistry, Natural Sciences, Udp-galactose Transporter Slc35a2 +6

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 · 107 citations · Full text

Neurodevelopmental Disorders, Atpase Module, Developmental Anomaly +12

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 · 104 citations · Full text

Brain Development, Genetics, Duplication 17P13.3 +19