Last Updated: 09/26/2026
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Found 14 publications
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.
Journal: NPJ genomic medicine
Published: December 15, 2025
Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.
Journal: HGG advances
Published: August 21, 2025
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia.
Journal: Familial cancer
Published: January 18, 2025
Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi Anemia
Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology
Published: November 08, 2024
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia.
Journal: Familial cancer
Published: April 03, 2024
Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 22, 2023
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia.
Journal: Molecular genetics and metabolism
Published: March 29, 2023
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Journal: Blood
Published: June 22, 2022
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 21, 2021
Fanconi anaemia: A syndrome with distinct subgroups.
Journal: British journal of haematology
Published: December 02, 2021
Last Updated: 09/26/2026