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High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

Endocrine, 2024, Vol.85 (1), p.363-369

2024

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Genetics in medicine, 2016-05, Vol.18 (5), p.483-493

2016

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An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

Maternal-fetal medicine (Online), 2023-04, Vol.5 (2), p.128-130

2023

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P262: First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

Genetics in Medicine Open, 2023, Vol.1 (1), p.100290, Article 100290

2023

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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

Journal of human genetics, 2020-11, Vol.65 (11), p.971-984

2020

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Frontiers in neurology, 2023-07, Vol.14, p.1219324-1219324

2023

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SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India

Bone Reports, 2023-06, Vol.18, p.101690-101690, Article 101690

2023

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Clinico-etiological spectrum and functional outcomes of children with pre-status dystonicus and Status Dystonicus (SD): A descriptive study

Annals of the Indian Academy of Neurology, 2023-05, Vol.26 (3), p.268-274

2023

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Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis

Rheumatology international, 2017-10, Vol.37 (10), p.1643-1649

2017

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Phenotypic pleiotropy in arginase deficiency: A single center cohort

Annals of the Indian Academy of Neurology, 2022-11, Vol.25 (6), p.1104-1108

2022

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BMC medical genetics, 2019-02, Vol.20 (1), p.31-11, Article 31

2019

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Restrictive Dermopathy

Pediatrics and neonatology, 2016-06, Vol.57 (3), p.259

2016

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Hereditary folate malabsorption: A rare treatable disorder with hematological and neurological manifestations

Annals of the Indian Academy of Neurology, 2022-11, Vol.25 (6), p.1238-1241

2022

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Late onset multiple Acyl-CoA dehydrogenase deficiency: A rare treatable neurometabolic disorder

Annals of the Indian Academy of Neurology, 2022-09, Vol.25 (5), p.983-985

2022

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Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis

Frontiers in cell and developmental biology, 2022-06, Vol.10, p.843413-843413

2022

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Eye signs in a child with ROBO3 gene mutation

Indian journal of ophthalmology, 2022-07, Vol.70 (7), p.2643-2644

2022

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“Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)

Brain & development (Tokyo. 1979), 2016-05, Vol.38 (5), p.516-519

2016

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Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia

Annals of the Indian Academy of Neurology, 2021-03, Vol.24 (2), p.247-248

2021

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Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder

Annals of the Indian Academy of Neurology, 2021-11, Vol.24 (6), p.933-934

2021

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A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome

Clinical dysmorphology, 2016-07, Vol.25 (3), p.101

2016

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Fumaric aciduria: A rare cause of refractory epilepsy

Annals of the Indian Academy of Neurology, 2022-07, Vol.25 (4), p.738-740

2022

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Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia open, 2023-12, Vol.8 (4), p.1383-1404

2023

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Soluble‐HLA‐E: A follow up biomarker in Takayasu arteritis, independent of HLA‐E genotype

International journal of rheumatic diseases, 2018-02, Vol.21 (2), p.532-540

2018

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The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

Journal of clinical and diagnostic research, 2019, Vol.13 (1), p.GC01-GC04

2019

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A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis

Seminars in arthritis and rheumatism, 2013-06, Vol.42 (6), p.582-589

2013

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High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

P262: First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India

Clinico-etiological spectrum and functional outcomes of children with pre-status dystonicus and Status Dystonicus (SD): A descriptive study

Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis

Phenotypic pleiotropy in arginase deficiency: A single center cohort

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Restrictive Dermopathy

Hereditary folate malabsorption: A rare treatable disorder with hematological and neurological manifestations

Late onset multiple Acyl-CoA dehydrogenase deficiency: A rare treatable neurometabolic disorder

Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis

Eye signs in a child with ROBO3 gene mutation

“Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)

Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia

Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome

Fumaric aciduria: A rare cause of refractory epilepsy

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Soluble‐HLA‐E: A follow up biomarker in Takayasu arteritis, independent of HLA‐E genotype

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis

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