Mary K. Kukolich

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, A. Moncla et al. · The American Journal of Human Genetics · 1998 · 218 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 116 citations · Full text

Schaaf-yang Syndrome, Autoimmune Disease, Genetic Disorder +8

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 108 citations · Full text

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 105 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +6

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Ning Liu, Kelly Schoch, Xi Luo et al. · Human Molecular Genetics · 2018 · 73 citations · Full text

Family Members, Malformation Syndromes, Genetics +16