Publications by authors named "Colleen Carlston"

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Colleen Carlston

Eur J Hum Genet· March 2025

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Brief, Resolved, Unexplained Events Explained in a Two-Month Old Infant.
Caitlin J Bowen, Maggie J Jones, Deborah Stein, Andrew M Fine, Colleen Carlston

J Pediatr· October 2024

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Interpreting variants in genes affected by clonal hematopoiesis in population data.
Sanna Gudmundsson, Colleen M Carlston, Anne O'Donnell-Luria

Hum Genet· April 2024

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz

Genet Med· September 2022

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Exome Sequencing Identifies a Novel Variant in a Patient with Witteveen-Kolk Syndrome.
Monica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, Anne Slavotinek

Mol Syndromol· July 2022

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Expanding the KIF4A-associated phenotype.
Silvia Kalantari, Colleen Carlston, Norah Alsaleh, Ghada M H Abdel-Salam, Fowzan Alkuraya

Am J Med Genet A· December 2021

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PQN-59 antagonizes microRNA-mediated repression during post-embryonic temporal patterning and modulates translation and stress granule formation in C. elegans.
Colleen Carlston, Robin Weinmann, Natalia Stec, Simona Abbatemarco, Francoise Schwager

PLoS Genet· November 2021

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Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.
Brendan Panici, Hosei Nakajima, Colleen M Carlston, Hakan Ozadam, Can Cenik

Genomics· July 2021

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Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Karly Hampshire, Pierre-Marie Martin, Colleen Carlston, Anne Slavotinek

Am J Med Genet A· August 2020

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Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Lora J H Bean, Birgit Funke, Colleen M Carlston, Jennifer L Gannon, Sibel Kantarci

Genet Med· March 2020

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Colleen Carlston

Hum Mutat· July 2019

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Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Colleen M Carlston, Steven B Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown

Am J Med Genet A· May 2019

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, Jennifer B Phillips, Jeremy Wegner, Colleen M Carlston

Am J Hum Genet· March 2019

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Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Colleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, Rong Mao, Nicola Longo

JIMD Rep· June 2018

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Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Desiree DeMille, Colleen M Carlston, Oliver H Tam, Janice C Palumbos, Heather J Stalker

Am J Med Genet A· April 2018

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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Wei Shen, Jennifer M Heeley, Colleen M Carlston, Rocio Acuna-Hidalgo, Willy M Nillesen

Am J Med Genet A· November 2017

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Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata

Am J Med Genet A· October 2017

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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd

Hum Mutat· May 2017

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Delayed environmental enrichment reverses sevoflurane-induced memory impairment in rats.
Jennifer Shih, Laura D V May, Heidi E Gonzalez, Elaine W Lee, Rehan S Alvi, Colleen M Carlston

Anesthesiology· March 2012

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