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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Human genetics, 2013-04, Vol.132 (4), p.473-480

2013

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Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Nature communications, 2021-02, Vol.12 (1), p.757-757, Article 757

2021

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Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

Expert Review of Hematology, 2013-06, Vol.6 (3), p.327-337

2013

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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Genes & development, 2014-10, Vol.28 (19), p.2090-2102

2014

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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Blood, 2014-07, Vol.124 (1), p.24-32

2014

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Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Pediatric neurology, 2016-03, Vol.56, p.62-68.e1

2016

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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Blood, 2022-08, Vol.140 (8), p.909-921

2022

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Multiple genetic pathways regulate replicative senescence in telomerase‐deficient yeast

Aging cell, 2013-08, Vol.12 (4), p.719-727

2013

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Novel FANCI mutations in Fanconi anemia with VACTERL association

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.386-391

2016

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1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

Cold Spring Harbor molecular case studies, 2019-12, Vol.5 (6), p.a004564

2019

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Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

Cold Spring Harbor molecular case studies, 2020-02, Vol.6 (1), p.a005116

2020

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Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia

Biology of blood and marrow transplantation, 2020-05, Vol.26 (5), p.817-822

2020

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Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Blood, 2015-12, Vol.126 (23), p.4780-4780

2015

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Germline Mutations in Patients Receiving Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Blood, 2016-12, Vol.128 (22), p.68-68

2016

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Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Blood, 2013-11, Vol.122 (21), p.1228-1228

2013

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Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Blood, 2012-11, Vol.120 (21), p.515-515

2012

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RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family

Blood, 2012-11, Vol.120 (21), p.511-511

2012

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Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia

Blood, 2013-11, Vol.122 (21), p.2465-2465

2013

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Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia

Biology of blood and marrow transplantation, 2020-01, Vol.26 (5), p.817-822

2020

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Pre-HCT Telomere Abnormalities and Mortality after Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Biology of blood and marrow transplantation, 2019-03, Vol.25 (3), p.S417-S417

2019

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Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

Science (American Association for the Advancement of Science), 2021-05, Vol.372 (6543), p.725-729

2021

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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Nature genetics, 2014-05, Vol.46 (5), p.482-486

2014

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Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

Human genetics, 2014-10, Vol.133 (10), p.1289-1297

2014

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Multiple genetic pathways regulate replicative senescence in telomerase‐deficient yeast

Novel FANCI mutations in Fanconi anemia with VACTERL association

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Germline Mutations in Patients Receiving Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family

Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome: e1003695

Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia

Pre-HCT Telomere Abnormalities and Mortality after Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

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