Candace Gamble

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 75 citations · Full text

Allelic Variant, Variable Brain Anomalies, Genetic Disorder +9

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Claudia Gonzaga‐Jauregui, Candace Gamble, Bo Yuan et al. · European Journal of Human Genetics · 2014 · 71 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Multicenter study of mortality in achondroplasia

S. Shahrukh Hashmi, Candace Gamble, Julie Hoover‐Fong et al. · American Journal of Medical Genetics Part A · 2018 · 52 citations

Acute Brainstem Compression, Cardiovascular Disease, Clinical Epidemiology +12

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Developmental Biology, Cause Neurodevelopmental Delay, Genetic Disorder +9

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

Karen Runge, Rémi Mathieu, Stéphane Bugeon et al. · Molecular Psychiatry · 2021 · 44 citations · Full text