Sakkubai R. Naidu

Pediatrics

707 N Broadway
Baltimore, MD 21205

Last Updated: 09/26/2026

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Found 53 publications

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Journal: Journal of medical genetics

Published: February 16, 2023

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Journal: European journal of medical genetics

Published: July 07, 2022

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

Journal: Neurology. Genetics

Published: November 03, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 29, 2020

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders.

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders.

Journal: Neuroscience

Published: February 25, 2020

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 13, 2020

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 23, 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Journal: Molecular autism

Published: June 03, 2019

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Journal: Human mutation

Published: March 12, 2019

Expansion of the clinical spectrum associated with AARS2-related disorders.

Expansion of the clinical spectrum associated with AARS2-related disorders.

Journal: American journal of medical genetics. Part A

Published: February 07, 2019

Mutation update for the SATB2 gene.

Mutation update for the SATB2 gene.

Journal: Human mutation

Published: February 04, 2019

Showing 1-12 of 53

Last Updated: 09/26/2026