Publications by authors named "Candace Gamble"

8Publications

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.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

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.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

Multicenter study of mortality in achondroplasia.

Am J Med Genet A 2018 11 1;176(11):2359-2364. Epub 2018 Oct 1.

Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas.

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http://doi.wiley.com/10.1002/ajmg.a.40528
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http://dx.doi.org/10.1002/ajmg.a.40528DOI Listing
November 2018

Pseudoachondroplasia and painful sequelae.

Am J Med Genet A 2015 Nov 14;167A(11):2618-22. Epub 2015 Jul 14.

Medical School, University of Texas Health Science Center at Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37253DOI Listing
November 2015

Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.

Prenat Diagn 2014 Nov 6;34(11):1115-8. Epub 2014 Aug 6.

Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX, USA; Graduate School of Biomedical Sciences, University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1002/pd.4436DOI Listing
November 2014