Shahyan M. Siddiqui

Hyderabad, TG, India

Last Updated: 09/26/2026

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Found 22 publications

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Journal: Journal of inherited metabolic disease

Published: December 05, 2025

A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.

A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.

Journal: Neurogenetics

Published: September 26, 2025

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Journal: Clinical dysmorphology

Published: August 14, 2024

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Journal: Clinical genetics

Published: July 30, 2024

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Journal: American journal of medical genetics. Part A

Published: July 06, 2024

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Journal: Clinical genetics

Published: November 13, 2023

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Journal: European journal of human genetics : EJHG

Published: June 29, 2023

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.

Journal: Clinical dysmorphology

Published: March 06, 2023

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

Journal: American journal of medical genetics. Part A

Published: July 30, 2022

AI-CoV Study: Autoimmune Encephalitis Associated With COVID-19 and Its Vaccines-A Systematic Review.

AI-CoV Study: Autoimmune Encephalitis Associated With COVID-19 and Its Vaccines-A Systematic Review.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: March 15, 2022

Showing 1-12 of 22

Last Updated: 09/26/2026