Publications by authors named "Dustin L Gable"

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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Dustin L Gable

Brain· September 2025

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Neurodevelopmental disorders associated variants in disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Dustin L Gable

medRxiv· November 2024

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Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa, Dustin L Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan

Ann Clin Transl Neurol· February 2024

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Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
Emily A DeBoy, Michael G Tassia, Kristen E Schratz, Stephanie M Yan, Zoe L Cosner, Dustin L Gable

N Engl J Med· June 2023

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T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.
Kristen E Schratz, Diane A Flasch, Christine C Atik, Zoe L Cosner, Amanda L Blackford, Dustin L Gable

Cancer Cell· April 2023

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Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.
Dustin L Gable, Alisa Mo, Elicia Estrella, Afshin Saffari, Partha S Ghosh

Am J Med Genet A· December 2022

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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Maya Chopra, Dustin L Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz

Ann Clin Transl Neurol· February 2022

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, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Dustin L Gable, Valeriya Gaysinskaya, Christine C Atik, C Conover Talbot, Byunghak Kang

Genes Dev· October 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, Dustin L Gable

J Clin Invest· December 2018

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Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
Erin M Parry, Dustin L Gable, Susan E Stanley, Sara E Khalil, Valentin Antonescu

J Thorac Oncol· November 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

Sci Transl Med· August 2016

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Jing You, Nara L Sobreira, Dustin L Gable, Julie Jurgens, Dorothy K Grange

Am J Hum Genet· May 2016

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Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes.
Susan E Stanley, Avani Dholakia Rao, Dustin L Gable, Sharon McGrath-Morrow, Mary Armanios

Int J Radiat Oncol Biol Phys· December 2015

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Differential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice.
Jessica L Fleming, Dustin L Gable, Somayeh Samadzadeh-Tarighat, Luke Cheng, Lianbo Yu

PeerJ· May 2013

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