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The GenomeAsia 100K Project enables genetic discoveries across Asia

Nature (London), 2019-12, Vol.576 (7785), p.106-111

2019

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Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1

Pediatric hematology and oncology, 2019-02, Vol.36 (2), p.82-85

2019

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Abstract 2558: A retrospective analysis of the spectrum of genetic variations associated with hereditary cancers in Indians

Cancer research (Chicago, Ill.), 2016-07, Vol.76 (14_Supplement), p.2558-2558

2016

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Novel GNAL mutation in an Indian patient with generalized dystonia and response to deep brain stimulation

Parkinsonism & related disorders, 2019-05, Vol.62, p.246-247

2019

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A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1868-1873

2016

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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Scientific reports, 2023-09, Vol.13 (1), p.15095-15095, Article 15095

2023

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Chorea-acanthocytosis: 3 new families with novel genetic and metabolic findings

Annals of the Indian Academy of Neurology, 2021-05, Vol.24 (3), p.452-456

2021

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Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis

Journal of medical genetics, 2023-08, Vol.60 (8), p.801

2023

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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

Journal of human genetics, 2022-03, Vol.67 (3), p.133-136

2022

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Retinoblastoma genetics screening and clinical management

BMC medical genomics, 2021-07, Vol.14 (1), p.188-9, Article 188

2021

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Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson’s Disease

Canadian journal of neurological sciences, 2022-01, Vol.49 (1), p.93-101

2022

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Resequencing CYP2D6 gene in Indian population: CYP2D641 identified as the major reduced function allele

Pharmacogenomics, 2019-07, Vol.20 (10), p.719-729

2019

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Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients

Scientific reports, 2018-07, Vol.8 (1), p.10176-12, Article 10176

2018

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Molecular epidemiology of SARS-CoV-2 in healthcare workers and identification of viral genomic correlates of transmissibility and vaccine break through infection: A retrospective observational study from a cancer hospital in eastern India

Indian journal of medical microbiology, 2023-01, Vol.41, p.104-110

2023

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Cost-efficient HIV-1 drug resistance surveillance using multiplexed high-throughput amplicon sequencing: implications for use in low- and middle-income countries

Journal of antimicrobial chemotherapy, 2014-12, Vol.69 (12), p.3349-3355

2014

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Evolution of targeted therapies in cancer: opportunities and challenges in the clinic

Future oncology (London, England), 2015-01, Vol.11 (2), p.279-293

2015

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Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India

Frontiers in immunology, 2018-02, Vol.9, p.188-188

2018

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Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

Molecular syndromology, 2020-02, Vol.11 (1), p.43-49

2020

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy

Human molecular genetics, 2008-03, Vol.17 (5), p.656-666

2008

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ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

PLoS genetics, 2014-03, Vol.10 (3), p.e1004089-e1004089

2014

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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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A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

Movement disorders clinical practice (Hoboken, N.J.), 2020-08, Vol.7 (6), p.688-692

2020

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The GenomeAsia 100K Project enables genetic discoveries across Asia

Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians

Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1

Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations

Abstract 2558: A retrospective analysis of the spectrum of genetic variations associated with hereditary cancers in Indians

Novel GNAL mutation in an Indian patient with generalized dystonia and response to deep brain stimulation

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Chorea-acanthocytosis: 3 new families with novel genetic and metabolic findings

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

Retinoblastoma genetics screening and clinical management

The Genetic Drivers of Juvenile, Young, and Early‐Onset Parkinson's Disease in India

Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson’s Disease

Resequencing CYP2D6 gene in Indian population: CYP2D641 identified as the major reduced function allele

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients

Molecular epidemiology of SARS-CoV-2 in healthcare workers and identification of viral genomic correlates of transmissibility and vaccine break through infection: A retrospective observational study from a cancer hospital in eastern India

Cost-efficient HIV-1 drug resistance surveillance using multiplexed high-throughput amplicon sequencing: implications for use in low- and middle-income countries

Evolution of targeted therapies in cancer: opportunities and challenges in the clinic

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

SLC4A11 mutations in Fuchs endothelial corneal dystrophy

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

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

A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

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