Publications by authors named "Carolyn D Applegate"

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Assessing genetic counseling efficiency with natural language processing.
Michelle H Nguyen, Carolyn D Applegate, Brittney Murray, Ayah Zirikly, Crystal Tichnell

J Am Med Inform Assoc· November 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Carolyn D Applegate

ArXiv· February 2025

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A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Carolyn D Applegate

Genes (Basel)· August 2024

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Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Jacqueline R Harris, Christine W Gao, Jacquelyn F Britton, Carolyn D Applegate, Hans T Bjornsson

Hum Genet· April 2024

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Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.
Carolyn D Applegate, François Schiettecatte, Ada Hamosh, Joanna S Amberger

Curr Protoc· September 2022

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Carolyn D Applegate

Genet Med· June 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Carolyn D Applegate

Brain· December 2020

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Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Teresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, Hans Tomas Bjornsson

Mol Genet Genomic Med· February 2020

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Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D Applegate

Am J Hum Genet· July 2019

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Short telomere syndromes cause a primary T cell immunodeficiency.
Christa L Wagner, Vidya Sagar Hanumanthu, C Conover Talbot, Roshini S Abraham, David Hamm, Carolyn D Applegate

J Clin Invest· December 2018

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Missense variants in the chromatin remodeler are associated with neurodevelopmental disability.
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho

J Med Genet· August 2018

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Diagnostic utility of telomere length testing in a hospital-based setting.
Jonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, Amy E DeZern, Susan E Stanley, Carolyn D Applegate

Proc Natl Acad Sci U S A· March 2018

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Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
Courtney Berrios, Cynthia A James, Karen Raraigh, Juli Bollinger, Brittney Murray, Carolyn D Applegate

J Genet Couns· February 2018

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, Shen Gu, Zeynep Hande Coban Akdemir, Carolyn D Applegate

Genet Med· April 2017

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Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Carolyn D Applegate

Sci Transl Med· August 2016

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CRB1-Related Maculopathy With Cystoid Macular Edema.
Yulia Wolfson, Carolyn D Applegate, Rupert W Strauss, Ian C Han, Hendrik P Scholl

JAMA Ophthalmol· November 2015

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The impact of chromosomal microarray on clinical management: a retrospective analysis.
Lindsay B Henderson, Carolyn D Applegate, Elizabeth Wohler, Molly B Sheridan, Julie Hoover-Fong

Genet Med· September 2014

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A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.
Monica E Lemmon, Bennett Lavenstein, Carolyn D Applegate, Ada Hamosh, Aylin Tekes

Mov Disord· December 2013

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A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Jill A Fahrner, Aisha Frazier, Suha Bachir, Michael F Walsh, Carolyn D Applegate

Am J Med Genet A· June 2012

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