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Inherited Bone Marrow Failure Syndromes Study

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Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS

B. Alter, N. Giri. (2016). American Journal of Medical Genetics Part A. Cited 53 times. https://doi.org/10.1002/ajmg.a.37637

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

Payal P. Khincha, A. Bertuch, Suneet Agarwal, et al. (2017). European Respiratory Journal. Cited 45 times. https://doi.org/10.1183/13993003.01640-2016

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

Ashley Burris, Bari J. Ballew, Joshua B Kentosh, et al. (2016). Pediatric neurology. Cited 38 times. https://doi.org/10.1016/j.pediatrneurol.2015.12.005

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

S. Gadalla, Payal P. Khincha, H. Katki, et al. (2016). Molecular Genetics & Genomic Medicine. Cited 23 times. https://doi.org/10.1002/mgg3.220