Rashmi K. Dongerdiye
Mumbai, MH 400012, India
Last Updated: 09/26/2026
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Found 18 publications
A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.
Journal: Molecular biology reports
Published: March 06, 2026
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges.
Journal: Human mutation
Published: February 01, 2026
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
Journal: Journal of human genetics
Published: April 24, 2025
Hematopoietic Stem Cell Transplant of a Congenital Dyserythropoietic Anemia Type II Patient: A Rare Report from the Indian Population.
Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
Published: March 20, 2024
Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Journal: Annals of hematology
Published: February 27, 2024
Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population.
Journal: Indian journal of pediatrics
Published: April 13, 2023
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Journal: Annals of hematology
Published: October 13, 2022
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
Journal: Molecular genetics and genomics : MGG
Published: July 06, 2022
Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.
Journal: Italian journal of pediatrics
Published: July 01, 2022
Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.
Journal: Hematology (Amsterdam, Netherlands)
Published: April 12, 2022
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Journal: International journal of hematology
Published: July 02, 2021
Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.
Journal: BMC medical genomics
Published: January 12, 2021
Last Updated: 09/26/2026