Santhosh Dhanraj
Toronto, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia.
Journal: Leukemia
Published: March 21, 2022
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Journal: NPJ genomic medicine
Published: October 19, 2018
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
Journal: Journal of medical genetics
Published: April 10, 2018
The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Journal: NPJ genomic medicine
Published: July 11, 2017
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Journal: Blood
Published: January 08, 2017
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Journal: Journal of medical genetics
Published: June 01, 2015
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Journal: Journal of medical genetics
Published: May 15, 2015
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Journal: Journal of clinical immunology
Published: February 21, 2013
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.
Journal: Pediatric blood & cancer
Published: June 09, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026