Publications by authors named "Candace Gamble"

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Autosomal dominant -related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, Abdallah F Elias, Aya Abu-El-Haija, Candace Gamble

Genet Med Open· March 2025

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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Candace Gamble

Mol Psychiatry· December 2021

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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Candace Gamble

Mol Psychiatry· November 2021

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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, Sinje Geuer, Machteld Oud, Candace Gamble

Am J Hum Genet· July 2020

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Candace Gamble

Am J Hum Genet· April 2020

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Konrad Platzer, Heinrich Sticht, Stacey L Edwards, William Allen, Kaitlin M Angione, Candace N Gamble

Am J Hum Genet· February 2019

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Multicenter study of mortality in achondroplasia.
S Shahrukh Hashmi, Candace Gamble, Julie Hoover-Fong, Adekemi Yewande Alade, Richard M Pauli

Am J Med Genet A· November 2018

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Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.
Rachel Courtney, Candace Gamble, Monica L Arango, Avni Shah, Nunilo I Rubio

J Pediatr Endocrinol Metab· September 2016

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Pseudoachondroplasia and painful sequelae.
Candace Gamble, Joanne Nguyen, S Shahrukh Hashmi, Jacqueline T Hecht

Am J Med Genet A· November 2015

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Claudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, Samantha Penney, Shalini Jhangiani

Eur J Hum Genet· March 2015

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Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.
Joanne Macayran Nguyen, Candace Gamble, Janice L Smith, Marianna Raia, Anthony Johnson

Prenat Diagn· November 2014

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