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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Journal of human genetics, 2019-04, Vol.64 (4), p.323-331

2019

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Natural history of non-lethal Raine syndrome during childhood

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.93-93, Article 93

2020

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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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Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

The Indian journal of radiology & imaging, 2024-04, Vol.34 (2), p.291-308

2024

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Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

The Cleft palate-craniofacial journal, 2022-11, Vol.59 (11), p.1329-1339

2022

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Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience

The Indian journal of radiology & imaging, 2023-04, Vol.33 (2), p.144-149

2023

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Mutations in CSPP1 Lead to Classical Joubert Syndrome

American journal of human genetics, 2014-01, Vol.94 (1), p.80-86

2014

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Efficacy of modified constraint induced movement therapy in improving upper limb function in children with hemiplegic cerebral palsy: A randomized controlled trial

Brain & development (Tokyo. 1979), 2013-10, Vol.35 (9), p.870-876

2013

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Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Metabolic brain disease, 2017-12, Vol.32 (6), p.1889-1900

2017

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Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

Pediatric neurology, 2017-05, Vol.70, p.61-66

2017

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Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Journal of human genetics, 2019-10, Vol.64 (10), p.985-994

2019

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Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta dermato-venereologica, 2018-10, Vol.98 (9), p.873-879

2018

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Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards “Exome Sequencing First Approach”?

Indian journal of pediatrics, 2024-07, Vol.91 (7), p.653-654

2024

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P185: Phenotypic and genotypic spectrum of arthrogryposis multiplex congenita using next generation sequencing: Experience from a tertiary care center in India

Genetics in Medicine Open, 2023, Vol.1 (1), p.100214, Article 100214

2023

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Decoding of novel missense TSC2 gene variants using in-silico methods

BMC medical genetics, 2019-10, Vol.20 (1), p.164-164, Article 164

2019

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Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide

HGG advances, 2022-01, Vol.3 (1), p.100069, Article 100069

2022

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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

BMC neurology, 2018-12, Vol.18 (1), p.203-203, Article 203

2018

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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Human genetics, 2012-11, Vol.131 (11), p.1761-1773

2012

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

BMC pediatrics, 2018-04, Vol.18 (1), p.126-126, Article 126

2018

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Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

Indian journal of ophthalmology, 2017-11, Vol.65 (11), p.1156-1160

2017

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Adverse pregnancy outcome in patients with low pregnancy-associated plasma protein-A: The Indian Experience

The journal of obstetrics and gynaecology research, 2015-07, Vol.41 (7), p.1003-1008

2015

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Spine radiograph in dysplasias: A pictorial essay

The Indian journal of radiology & imaging, 2020-10, Vol.30 (4), p.436-447

2020

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Genomic surveillance of SARS-CoV-2 upsurge in India due to Omicron sub-lineages BA.2.74, BA.2.75 and BA.2.76

The Lancet regional health. Southeast Asia, 2023-04, Vol.11, p.100148-100148, Article 100148

2023

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Bone (New York, N.Y.), 2013-08, Vol.55 (2), p.292-297

2013

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Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India

Journal of dermatological science, 2017-04, Vol.86 (1), p.30-36

2017

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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Natural history of non-lethal Raine syndrome during childhood

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

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Efficacy of modified constraint induced movement therapy in improving upper limb function in children with hemiplegic cerebral palsy: A randomized controlled trial

Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards “Exome Sequencing First Approach”?

P185: Phenotypic and genotypic spectrum of arthrogryposis multiplex congenita using next generation sequencing: Experience from a tertiary care center in India

Decoding of novel missense TSC2 gene variants using in-silico methods

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

Adverse pregnancy outcome in patients with low pregnancy-associated plasma protein-A: The Indian Experience

Spine radiograph in dysplasias: A pictorial essay

Genomic surveillance of SARS-CoV-2 upsurge in India due to Omicron sub-lineages BA.2.74, BA.2.75 and BA.2.76

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India

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