Mary K. Kukolich
Cook Children's Medical Center(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Chromosomal and Genetic Variations
Most-Cited Works
- → Mutation Analysis of UBE3A in Angelman Syndrome Patients(1998)218 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families(2016)118 cited
- → Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders(2021)110 cited
- → Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome(2014)106 cited
- → Euchromatic 9q+ heteromorphism in a family(1990)74 cited
- → Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder(2018)73 cited
- → A second autosomal split hand/split foot locus maps to chromosome 10q24-q25(1995)71 cited
- → Joubert Syndrome in French Canadians and Identification of Mutations in CEP104(2015)70 cited
- → Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases(1984)67 cited