Sign inJoin waitlistJoin the waitlist

Janette DiMonda

Counselor · Emory University School of Medicine

Credentials:

History

Emory University School of Medicine
Present

Research

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Case report · The American Journal of Human Genetics · 2021 · 29 citations
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
The American Journal of Human Genetics · 2024 · 10 citations
Disparities in Diagnostic Yield of Genetic Testing in Children and Adolescents With Vascular Malformations and/or Overgrowth: A Single Site Experience
American Journal of Medical Genetics Part A · 2026 · First of 11 authors

Amelia Kirby
1 paper
Amy Kritzer
1 paper
Amy Whittle
1 paper
AG
Anne Gill
1 paper
Anne Slavotinek
1 paper
Cara Skraban
1 paper
CH
Clifford Hawkins
1 paper
Daniel Calame
1 paper · 1 as a fellow
Davut Pehlivan
1 paper · 1 as a fellow
Hailey Pinz
1 paper
Ingo Helbig
1 paper
James Lupski
1 paper