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Connie Motter

Licensed, Certified Genetic Counselor · Akron Children's

Credentials: ·

History

Akron Children's
Present

University of Cincinnati, Cincinnati, Ohio

Research

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
The American Journal of Human Genetics · 2024 · 29 citations
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular Psychiatry · 2023 · 29 citations
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
American Journal of Medical Genetics Part A · 2020 · 20 citations

Catherine Ward-Melver
3 papers
Lynne Bird
2 papers
AP
Aditi Parikh
1 paper
Amy Calhoun
1 paper
Anna Chassevent
1 paper
Anne O’Donnell
1 paper
Anne Slavotinek
1 paper
BS
Brittany Simpson
1 paper
BM
Bryce Mendelsohn
1 paper
Catherine Gooch
1 paper
Cigdem Akman
1 paper
Constance Smith-Hicks
1 paper