Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

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Critical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension

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Novel Compound HeterozygousRTEL1Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome

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Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

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Telomerase Deficiency Causes Alveolar Stem Cell Senescence-associated Low-grade Inflammation in Lungs

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(2015) Jianyi Yang et al.   NATURE METHODS

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Whole-Exome Sequencing RevealsTopBP1as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension

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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

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Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

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A Novel Channelopathy in Pulmonary Arterial Hypertension

(2013) Lijiang Ma et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

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A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

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Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

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