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ZCCHC8 , the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

Genes & development, 2019-10, Vol.33 (19-20), p.1381-1396

2019

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

American journal of human genetics, 2016-05, Vol.98 (5), p.909-918

2016

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Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

International journal of radiation oncology, biology, physics, 2015-12, Vol.93 (5), p.1115-1117

2015

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Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

Annals of clinical and translational neurology, 2024-02, Vol.11 (2), p.251-262

2024

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Familial Clonal Hematopoiesis in a Long Telomere Syndrome

The New England journal of medicine, 2023-06, Vol.388 (26), p.2422-2433

2023

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Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

Science translational medicine, 2016-08, Vol.8 (351), p.351ra107

2016

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Short telomere syndromes cause a primary T cell immunodeficiency

The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5222-5234

2018

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T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers

Cancer cell, 2023-04, Vol.41 (4), p.807-817.e6

2023

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Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

Journal of thoracic oncology, 2017-11, Vol.12 (11), p.1673-1678

2017

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Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3531-3534

2022

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Differential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice

PeerJ (San Francisco, CA), 2013-04, Vol.1, p.e68-e68

2013

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Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of clinical and translational neurology, 2022-02, Vol.9 (2), p.193-205

2022

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Elucidating Rare Mendelian Disease in Cerebral Palsy Clinic by Whole Exome Sequencing and Precise Phenotyping (1783)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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Rare germline TP53 variants in lung adenocarcinoma

Journal of clinical oncology, 2015-05, Vol.33 (15_suppl), p.1548-1548

2015

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Mechanisms of Telomerase RNA Insufficiency in Disease

Gable, Dustin L

2020

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Abstract 2096: The role of microRNA-1 as a candidate tumor suppressor in cutaneous squamous cell carcinoma

Cancer research (Chicago, Ill.), 2010-04, Vol.70 (8_Supplement), p.2096-2096

2010

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Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants

American journal of medical genetics. Part A, 2022, Vol.188 (12), p.3531-3534

2022

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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1420-1435

2023

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ZCCHC8 , the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

Familial Clonal Hematopoiesis in a Long Telomere Syndrome

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

Short telomere syndromes cause a primary T cell immunodeficiency

T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers

Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants

Differential expression of miR-1, a putative tumor suppressing microRNA, in cancer resistant and cancer susceptible mice

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Elucidating Rare Mendelian Disease in Cerebral Palsy Clinic by Whole Exome Sequencing and Precise Phenotyping (1783)

Rare germline TP53 variants in lung adenocarcinoma

Mechanisms of Telomerase RNA Insufficiency in Disease

Abstract 2096: The role of microRNA-1 as a candidate tumor suppressor in cutaneous squamous cell carcinoma

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

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