Colleen M Carlston (Colleen Carlston)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 10

Top Topics

Mitochondrial Dna

Intellectual Disability

Hypertrophic Cardiomyopathy

Top Venues

American journal of medical genetics. Part A

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Silvia Kalantari, Colleen M Carlston, Norah S Alsaleh, Ghada M H Abdel-Salam, Fowzan Sami Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lucas Fares-Taie, Jean-Michel Rozet, Nicolas Chassaing, Catherine Vincent-Delorme, Anjeung Kang-Bellin, Kirsty McWalter, Caleb P Bupp, Emily Palen, Monisa D Wagner, Marcello Niceta, Claudia Cesario, Roberta Milone, Julie Kaplan, Erin Wadman, William B Dobyns, Isabel Filges
Expanding the KIF4A-associated phenotype. American journal of medical genetics. Part A 185 (12) (2021)
Colleen M Carlston, Robin Weinmann, Natalia Stec, Simona Abbatemarco, Francoise Schwager, Jing Wang, Huiwu Ouyang, Collin Yvès Ewald, Monica Gotta, Christopher M Hammell
PQN-59 antagonizes microRNA-mediated repression during post-embryonic temporal patterning and modulates translation and stress granule formation in C. elegans. PLoS genetics 17 (11) (2021)
Karly Hampshire, Pierre-Marie Martin, Colleen M Carlston, Anne M Slavotinek
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. American journal of medical genetics. Part A 182 (8) (2020)
Colleen M Carlston, Steven B Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown, Pinar Bayrak-Toydemir, James F Bale, Lorenzo D Botto
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. American journal of medical genetics. Part A 179 (5) (2019)
Lora J H Bean, Birgit H Funke, Colleen M Carlston, Jennifer L Gannon, Sibel Kantarci, Bryan L Krock, Shulin Zhang, Pinar Bayrak-Toydemir, null null
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Desiree DeMille, Colleen M Carlston, Oliver H Tam, Janice C Palumbos, Heather J Stalker, Rong Mao, Roberto T Zori, David H Viskochil, Albert H Park, John C Carey
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. American journal of medical genetics. Part A 176 (4) (2019)
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. American journal of medical genetics. Part A 173 (10) (2017)