CandaceNicoleGambleMD

PubMed

• 28 citations
  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 M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Po...> ;American Journal of Human Genetics. 2020 Jul 2
• 16 citations
  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, Gaëlle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Maria-Victoria Hinckelmann, Frédéric Tran Mau-Them, Chantal Sellier, Alica M. Gol...> ;American Journal of Human Genetics. 2020 Apr 2
• 36 citations
  De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
  Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell Brasington, Megan T. Cho, Laurie A. Demmer, Tzipor...> ;American Journal of Human Genetics. 2019 Feb 7
• 20 citations
  Multicenter study of mortality in achondroplasia.
  S. Shahrukh Hashmi, Candace Gamble, Julie Hoover-Fong, Adekemi Yewande Alade, Richard M. Pauli, Peggy Modaff, Meagan Carney, Cassondra Brown, Michael B. Bober, Jacquel...> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 5 citations
  Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.
  Rachel Courtney, Candace Gamble, Monica L. Arango, Avni Shah, Nunilo Rubio, Joanne Nguyen, David Rodriguez-Buritica> ;Journal of Pediatric Endocrinology & Metabolism. 2016 Sep 1
• 15 citations
  Pseudoachondroplasia and painful sequelae
  Candace Gamble, S. Shahrukh Hashmi, Jacqueline T. Hecht> ;American Journal of Medical Genetics. Part A. 2015 Nov 1
• 42 citations
  Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
  Claudia Gonzaga-Jauregui, Candace Gamble, Bo Yuan, Samantha Penney, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Jacqueline T. Hecht> ;European Journal of Human Genetics. 2015 Mar 1
• 2 citations
  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, Jennifer Czerwinski> ;Prenatal Diagnosis. 2014 Nov 1
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