Sujatha M. Jagadeesh
Chennai, TN, India
Last Updated: 09/26/2026
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Found 40 publications
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.
Journal: Indian journal of pediatrics
Published: March 25, 2026
Organic Acidemias in India: Clinical and Molecular Spectrum.
Journal: Indian journal of pediatrics
Published: December 22, 2025
Central congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.
Journal: BMJ case reports
Published: January 28, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Journal: European journal of human genetics : EJHG
Published: November 01, 2024
Uveal Effusion Syndrome Due to WNT10A Mutation.
Journal: Ocular immunology and inflammation
Published: October 15, 2024
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
Journal: Molecular genetics & genomic medicine
Published: August 13, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Journal: Brain : a journal of neurology
Published: April 26, 2023
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Journal: Kidney international reports
Published: July 27, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Journal: Clinical genetics
Published: January 25, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Journal: Neuromuscular disorders : NMD
Published: October 17, 2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.
Journal: Frontiers in immunology
Published: September 30, 2020
Last Updated: 09/26/2026