Gautam P. Ambegaonkar
Cambridge, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 16 publications
A child with CANDLE syndrome presenting as seronegative polyarthritis following early chemotherapy.
Journal: Rheumatology (Oxford, England)
Published: November 16, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Journal: Nature communications
Published: February 29, 2024
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Journal: Journal of neuromuscular diseases
Published: January 08, 2024
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Journal: American journal of human genetics
Published: March 13, 2023
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2021
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Journal: Nature communications
Published: April 28, 2021
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics.
Journal: Archives of disease in childhood. Education and practice edition
Published: September 01, 2020
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Journal: The lancet. Diabetes & endocrinology
Published: February 19, 2019
Post-traumatic seizure with an unexpected finding.
Journal: Archives of disease in childhood. Education and practice edition
Published: May 04, 2017
Fifteen minute consultation: an approach to the child with chronic headaches.
Journal: Archives of disease in childhood. Education and practice edition
Published: April 10, 2017
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Journal: Neurology
Published: November 07, 2016
Glycine receptor antibody-associated epilepsy in a boy aged 4 years.
Journal: BMJ case reports
Published: November 01, 2016
Last Updated: 09/26/2026