Research & Literature

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Glousker G, Touzot F, Revy P, et al.

British journal of haematology 2015; (170(4)):457-71 doi:10.1111/bjh.13442.

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Collopy LC, Walne AJ, Cardoso S, et al.

Blood 2015; (126(2)):176-84 doi:10.1182/blood-2015-03-633388.

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Gorgy AI, Jonassaint NL, Stanley SE, et al.

Chest 2015; (148(4)):1019-1026 doi:10.1378/chest.15-0825.

Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease.

Iraji F, Jamshidi K, Pourazizi M, Abtahi-Naeini B

Oman medical journal 2015; (30(3)):212-5 doi:10.5001/omj.2015.44.

The wide-ranging clinical implications of the short telomere syndromes.

Barbaro PM, Ziegler DS, Reddel RR

Internal medicine journal 2016; (46(4)):393-403 doi:10.1111/imj.12868.

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

Burris AM, Ballew BJ, Kentosh JB, et al.

Pediatric neurology 2016; (56()):62-68.e1 doi:10.1016/j.pediatrneurol.2015.12.005.

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.

Zheng XY, Xu J, Li W, et al.

Medicine 2016; (95(12)):e3106 doi:10.1097/MD.0000000000003106.

Hereditary Predispositions to Myelodysplastic Syndrome.

Bannon SA, DiNardo CD

International journal of molecular sciences 2016; (17(6)).

Clonal hematopoiesis in patients with dyskeratosis congenita.

Perdigones N, Perin JC, Schiano I, et al.

American journal of hematology 2016; (91(12)):1227-1233 doi:10.1002/ajh.24552.

Telomere content measurement in human hematopoietic cells: Comparative analysis of qPCR and Flow-FISH techniques.

Wand T, Fang M, Chen C, et al.

Cytometry. Part A : the journal of the International Society for Analytical Cytology 2016; (89(10)):914-921 doi:10.1002/cyto.a.22982.

Photoprotection in specific populations: Children and people of color.

Cestari T, Buster K

Journal of the American Academy of Dermatology 2017; (76(3S1)):S110-S121 doi:10.1016/j.jaad.2016.09.039.

Assessment of Telomere Length, Phenotype, and DNA Content.

Kelesidis T, Schmid I

Current protocols in cytometry 2017; (79()):7.26.1-7.26.23 doi:10.1002/cpcy.12.

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.

Gupta MP, Talcott KE, Kim DY, et al.

Ophthalmic genetics 2017; (38(1)):51-60 doi:10.1080/13816810.2016.1275019.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C, Sahoo SS, Rizzi M, et al.

Frontiers in immunology 2017; (8()):449 doi:10.3389/fimmu.2017.00449.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Walsh MF, Chang VY, Kohlmann WK, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(11)):e23-e31 doi:10.1158/1078-0432.CCR-17-0465.

p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita.

Fok WC, Niero ELO, Dege C, et al.

Stem cell reports 2017; (9(2)):409-418 doi:10.1016/j.stemcr.2017.06.015.

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Khincha PP, Dagnall CL, Hicks B, et al.

International journal of molecular sciences 2017; (18(8)) doi:10.3390/ijms18081765.

Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita.

Bongiorno M, Rivard S, Hammer D, Kentosh J

Oral surgery, oral medicine, oral pathology and oral radiology 2017; (124(4)):e239-e242 doi:10.1016/j.oooo.2017.08.001.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Alter BP, Giri N, Savage SA, Rosenberg PS

Haematologica 2018; (103(1)):30-39 doi:10.3324/haematol.2017.178111.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Alter BP

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):88-95 doi:10.1182/asheducation-2017.1.88.

Treatment of inherited bone marrow failure syndromes beyond transplantation.

Calado RT, Clé DV

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):96-101 doi:10.1182/asheducation-2017.1.96.

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Touzot F, Kermasson L, Jullien L, et al.

Blood advances 2016; (1(1)):36-46 doi:10.1182/bloodadvances.2016001313.

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK, Hanumanthu VS, Strong MA, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(10)):E2358-E2365 doi:10.1073/pnas.1720427115.

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.

Kirschner M, Maurer A, Wlodarski MW, et al.

Leukemia 2018; (32(8)):1762-1767 doi:10.1038/s41375-018-0125-x.

Beginning at the ends: telomeres and human disease.

Savage SA

F1000Research 2018; (7()) doi:10.12688/f1000research.14068.1.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Ratnasamy V, Navaneethakrishnan S, Sirisena ND, et al.

BMC medical genetics 2018; (19(1)):85 doi:10.1186/s12881-018-0584-y.

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Khincha PP, Bertuch AA, Gadalla SM, et al.

Blood advances 2018; (2(11)):1243-1249 doi:10.1182/bloodadvances.2018016964.

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.

Fioredda F, Iacobelli S, Korthof ET, et al.

British journal of haematology 2018; (183(1)):110-118 doi:10.1111/bjh.15495.

Clinical features of dyskeratosis congenita in mainland China: case reports and literature review.

Li F, Li W, Qiao X, Xie X

International journal of hematology 2019; (109(3)):328-335 doi:10.1007/s12185-018-02582-x.

Dyskeratosis Congenita and Corneal Refractive Surgery.

Heiland MB, Moshirfar M, Rosen DB, et al.

Ophthalmology and therapy 2019; (8(3)):361-365 doi:10.1007/s40123-019-0200-z.

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Niewisch MR, Savage SA

Expert review of hematology 2019; (12(12)):1037-1052 doi:10.1080/17474086.2019.1662720.

Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies.

Ferreira MSV, Kirschner M, Halfmeyer I, et al.

Annals of the New York Academy of Sciences 2020; (1466(1)):93-103 doi:10.1111/nyas.14248.

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.

Gutierrez-Rodrigues F, Masri N, Chouery E, et al.

Human genetics 2019; (138(11-12)):1323-1330 doi:10.1007/s00439-019-02076-8.

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

Giri N, Ravichandran S, Wang Y, et al.

ERJ open research 2019; (5(4)) doi:10.1183/23120541.00209-2019.

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Benyelles M, O'Donohue MF, Kermasson L, et al.

Human molecular genetics 2020; (29(6)):907-922 doi:10.1093/hmg/ddaa011.

Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years.

van der Vis JJ, van der Smagt JJ, Hennekam FAM, et al.

Chest 2020; (158(2)):612-619 doi:10.1016/j.chest.2020.03.069.

Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita.

Kirschner M, Vieri M, Kricheldorf K, et al.

British journal of haematology 2021; (193(3)):669-673 doi:10.1111/bjh.16997.

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.

Himes RW, Chiou EH, Queliza K, et al.

The Journal of pediatrics 2021; (230()):55-61.e4 doi:10.1016/j.jpeds.2020.09.038.

The effect of 'I am Protecting my Child from the Sun' programme on parental sun protection behaviours: Randomized controlled trial.

Sümen A, Öncel S

Journal of advanced nursing 2021; (77(1)):387-400 doi:10.1111/jan.14614.

Revesz syndrome revisited.

Karremann M, Neumaier-Probst E, Schlichtenbrede F, et al.

Orphanet journal of rare diseases 2020; (15(1)):299 doi:10.1186/s13023-020-01553-y.

Squamous cell carcinoma of the tongue in 5-year-old girl with dyskeratosis congenita.

Jh K, Cs K

International journal of oral and maxillofacial surgery 2021; (50(12)):1546-1549 doi:10.1016/j.ijom.2021.02.027.

Dyskeratosis congenita and squamous cell carcinoma of the mandibular alveolar ridge.

Manfuso A, Risitano AM, Copelli C

BMJ case reports 2021; (14(5)) doi:10.1136/bcr-2021-242459.

Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review.

Bhoopalan SV, Wlodarski M, Reiss U, et al.

Pediatric blood & cancer 2021; (68(10)):e29177 doi:10.1002/pbc.29177.

Treatment of telomeropathies.

Vieri M, Brümmendorf TH, Beier F

Best practice & research. Clinical haematology 2021; (34(2)):101282 doi:10.1016/j.beha.2021.101282.

Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita.

Roake CM, Juntilla M, Agarwal-Hashmi R, et al.

Human pathology (New York) 2021; (25()) doi:10.1016/j.ehpc.2021.200517.

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.

Tometten M, Kirschner M, Isfort S, et al.

Orphanet journal of rare diseases 2021; (16(1)):395 doi:10.1186/s13023-021-02024-8.

Disease progression and clinical outcomes in telomere biology disorders.

Niewisch MR, Giri N, McReynolds LJ, et al.

Blood 2022; (139(12)):1807-1819 doi:10.1182/blood.2021013523.

The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure.

Keel S, Geddis A

Hematology. American Society of Hematology. Education Program 2021; (2021(1)):134-142 doi:10.1182/hematology.2021000244.

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.

Thompson MB, Muldoon D, de Andrade KC, et al.

EBioMedicine 2022; (75()):103760 doi:10.1016/j.ebiom.2021.103760.

Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore.

Juay L, Chandran NS

Skin appendage disorders 2022; (8(1)):53-56 doi:10.1159/000518299.

Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia.

Chihanga T, Vicente-Muñoz S, Ruiz-Torres S, et al.

Cancers 2022; (14(8)) doi:10.3390/cancers14082040.

Genetics and genomics of bone marrow failure syndrome.

Kim HY, Kim HJ, Kim SH

Blood research 2022; (57(S1)):86-92 doi:10.5045/br.2022.2022056.

Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Sakaguchi H, Yoshida N

International journal of hematology 2022; (116(1)):16-27 doi:10.1007/s12185-022-03362-4.

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita.

Yuan C, Deng D, Yang J, et al.

Clinical, cosmetic and investigational dermatology 2022; (15()):1837-1845 doi:10.2147/CCID.S371794.

de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

Kocheva SA, Gjorgjievska M, Martinova K, et al.

Balkan journal of medical genetics : BJMG 2021; (24(2)):89-93 doi:10.2478/bjmg-2021-0027.

Recent advances in understanding telomere diseases.

Carvalho VS, Gomes WR, Calado RT

Faculty reviews 2022; (11()):31 doi:10.12703/r/11-31.

Dyskeratosis congenita and telomere biology disorders.

Savage SA

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):637-648 doi:10.1182/hematology.2022000394.

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.

Nelson N, Feurstein S, Niaz A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(3)):100354 doi:10.1016/j.gim.2022.11.021.

Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.

Clé DV, Catto LFB, Gutierrez-Rodrigues F, et al.

Haematologica 2023; (108(5)):1300-1312 doi:10.3324/haematol.2022.281808.

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.

Tometten M, Kirschner M, Meyer R, et al.

HemaSphere 2023; (7(5)):e874 doi:10.1097/HS9.0000000000000874.

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Vittal A, Niewisch MR, Bhala S, et al.

Hepatology (Baltimore, Md.) 2023; (78(6)):1777-1787 doi:10.1097/HEP.0000000000000461.

Spectrum of Liver Pathology in Dyskeratosis Congenita.

Putra J, Agarwal S, Al-Ibraheemi A, et al.

The American journal of surgical pathology 2023; (47(8)):869-877 doi:10.1097/PAS.0000000000002060.

Dyskeratosis Congenita: A Case Report of a Patient With Coronary Artery Disease.

Ghaly M, Ghaly M, Harris S

Cureus 2023; (15(6)):e40939 doi:10.7759/cureus.40939.

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.

He M, Lian G, Hu H, et al.

The Turkish journal of pediatrics 2023; (65(5)):845-852.

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).

Rolles B, Caballero-Oteyza A, Proietti M, et al.

Clinical immunology (Orlando, Fla.) 2023; (257()):109837 doi:10.1016/j.clim.2023.109837.

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Cuccuini W, Collonge-Rame MA, Auger N, et al.

Current research in translational medicine 2023; (71(4)):103423 doi:10.1016/j.retram.2023.103423.

Revisiting the first reported case of aplastic anaemia.

Steensma DP

British journal of haematology 2024; (204(2)):455-458 doi:10.1111/bjh.19241.

Clinical manifestations of telomere biology disorders in adults.

Niewisch MR, Beier F, Savage SA

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):563-572 doi:10.1182/hematology.2023000490.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?

Hudda Z, Myers KC

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):141-148 doi:10.1182/hematology.2023000471.

Diagnosis and Management of Pulmonary Manifestations of Telomere Biology Disorders.

Del Valle KT, Carmona EM

Current hematologic malignancy reports 2024; (19(6)):285-292 doi:10.1007/s11899-023-00720-9.

Efficacy of lifestyle interventions in the management of systemic lupus erythematosus: a systematic review of the literature.

Tsoi A, Gomez A, Boström C, et al.

Rheumatology international 2024; (44(5)):765-778 doi:10.1007/s00296-024-05548-x.

Dyskeratosis congenita: a rare case report.

Khattab S, Nasser H, Al-Janabi MH, Hasan F

Oxford medical case reports 2024; (2024(5)):omae049 doi:10.1093/omcr/omae049.

Clinical Impact of Telomere Length Testing for Interstitial Lung Disease.

Zhang D, Eckhardt CM, McGroder C, et al.

Chest 2024; (166(5)):1071-1081 doi:10.1016/j.chest.2024.06.006.

Allogeneic Hematopoietic Cell Transplant For Bone Marrow Failure or Myelodysplastic Syndrome in Dyskeratosis Congenita/Telomere Biology Disorders: Single-Center, Single-Arm, Open-Label Trial of Reduced-Intensity Conditioning Without Radiation.

Dimitrov M, Merkle S, Cao Q, et al.

Transplantation and cellular therapy 2024; (30(10)):1005.e1-1005.e17 doi:10.1016/j.jtct.2024.07.007.

High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.

Coukos A, Saglietti C, Sempoux C, et al.

Hepatology communications 2024; (8(8)) doi:10.1097/HC9.0000000000000500.

Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients.

Maillet F, Galimard JE, Borie R, et al.

British journal of haematology 2024; (205(5)):1835-1847 doi:10.1111/bjh.19767.

Germline RTEL1 Variants in Telomere Biology Disorders.

Thompson AS, Niewisch MR, Giri N, et al.

American journal of medical genetics. Part A 2025; (197(2)):e63882 doi:10.1002/ajmg.a.63882.

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR, Kim J, Giri N, et al.

JAMA network open 2024; (7(12)):e2450111 doi:10.1001/jamanetworkopen.2024.50111.

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

Yu G, Xin G, Liu X, et al.

Journal of medical case reports 2025; (19(1)):32 doi:10.1186/s13256-025-05031-6.

Telomeropathies in Interstitial Lung Disease and Lung Transplant Recipients.

Southern BD, Gadre SK

Journal of clinical medicine 2025; (14(5)) doi:10.3390/jcm14051496.

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.

Sanz-Moreno A, Becker L, Xie K, et al.

Science advances 2025; (11(15)):eadp8093 doi:10.1126/sciadv.adp8093.

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Sürücü Kara İ, Duman D, Bademci G, et al.

Molecular syndromology 2025; (16(6)):559-567 doi:10.1159/000543315.

Analysis of Late Complications Associated With Hematopoietic Stem Cell Transplantation in Patients With Dyskeratosis Congenita.

Koike T, Yamamoto S, Shibata M, et al.

Pediatric blood & cancer 2025; (72(8)):e31757 doi:10.1002/pbc.31757.

[Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia].

Peng YL, Qian XT, Tian YQ, et al.

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2025; (48(6)):540-547 doi:10.3760/cma.j.cn112147-20241010-00593.

Human length telomeres restrict the regenerative potential of hematopoietic stem cells in mice.

Rowe M, Tober J, Ortiz V, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.08.26.672314.

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.

DeCleene NF, Nguyen DT, Kirk SE, et al.

British journal of haematology 2026; (208(3)):1093-1104 doi:10.1111/bjh.70155.

Diagnosis and management of adult telomere biology disorders.

Franke M, Ferrer A, Patnaik MM

Haematologica 2026; (111(3)):797-812 doi:10.3324/haematol.2025.287739.

Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.

Wedge E, Rasmussen AØ, Borgwardt L, et al.

American journal of medical genetics. Part A 2026; (200(4)):959-965 doi:10.1002/ajmga.70015.

Stem cell transplantation and gene therapy for telomere biology disorders: Historical perspective, current approaches, and emerging strategies.

Koo J, Reed HD, Myers KC, Agarwal S

Seminars in hematology 2025; (62(6)):493-502 doi:10.1053/j.seminhematol.2026.03.001.

TeloNet is born: why all specialities need to be aware of telomere biology disorders.

Longhurst HJ, Paxton JK, Tummala H, et al.

Frontiers in medicine 2026; (13()):1780232 doi:10.3389/fmed.2026.1780232.

Diagnosis and management of telomere biology disorders in developing countries.

Rodríguez A, Avendaño-Robles BA, Catto MB, et al.

Seminars in hematology 2025; (62(6)):521-531 doi:10.1053/j.seminhematol.2026.04.004.

Telomere biology disorders and hepatic disease.

Pirzada SA, Aleyadeh W, Fathma S, et al.

Seminars in hematology 2025; (62(6)):503-512 doi:10.1053/j.seminhematol.2026.05.004.

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome.

Courtwright A, King RA, Vagher J, et al.

Clinical genetics 2026; (110(2)):139-149 doi:10.1111/cge.70190.

What's New in Photoprotection?

Álvarez-Bobillo Z, Gracia-Cazaña T, Gilaberte Y, Lim HW

American journal of clinical dermatology 2026; (27(4)):683-695 doi:10.1007/s40257-026-01047-w.

Outcomes of Dyskeratosis Congenita: Results From the Canadian Inherited Marrow Failure Registry.

Al Nuaimi M, Catala A, Elias E, et al.

Journal of pediatric hematology/oncology 2026; (48(6)):287-297 doi:10.1097/MPH.0000000000003222.

Liver-associated findings and outcomes in a telomere biology disorders clinic.

Nguyen KM, Ongie L, Xu P, et al.

Hepatology communications 2026; (10(9)) doi:10.1097/HC9.0000000000001021.

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Viswanathan GK, Dass J, Chauhan R, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2026; (42(5)):1873-1880 doi:10.1007/s12288-025-02243-0.

Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.

Shah A, Yadav A, George M, et al.

European journal of human genetics : EJHG 2026; doi:10.1038/s41431-026-02233-4.