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NGS-QCbox and Raspberry for Parallel, Automated and Rapid Quality Control Analysis of Large-Scale Next Generation Sequencing (Illumina) Data

PloS one, 2015-10, Vol.10 (10), p.e0139868-e0139868

2015

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Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1602-1605

2021

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Next generation sequencing and de novo transcriptome analysis of Costus pictus D. Don, a non-model plant with potent anti-diabetic properties

BMC genomics, 2012-11, Vol.13 (1), p.663-663, Article 663

2012

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CicArMiSatDB: the chickpea microsatellite database

BMC bioinformatics, 2014-06, Vol.15 (1), p.212-212, Article 212

2014

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Whole Genome Sequencing and Comparative Genomic Analysis Reveal Allelic Variations Unique to a Purple Colored Rice Landrace ( Oryza sativa ssp. indica cv. Purpleputtu)

Frontiers in plant science, 2019-05, Vol.10, p.513-513

2019

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Trichothiodystrophy type 4 in an Indian family

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2226-2229

2020

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

American journal of medical genetics. Part A, 2024-09, p.e63892

2024

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Secondary metabolites from spice and herbs as potential multitarget inhibitors of SARS-CoV-2 proteins

Journal of biomolecular structure & dynamics, 2022-03, Vol.40 (5), p.2264-2283

2022

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The promise of discovering population-specific disease-associated genes in South Asia

Nature genetics, 2017-09, Vol.49 (9), p.1403-1407

2017

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De Novo transcriptome assembly (NGS) of Curcuma longa L. rhizome reveals novel transcripts related to anticancer and antimalarial terpenoids

PloS one, 2013-02, Vol.8 (2), p.e56217-e56217

2013

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Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature

Annals of human genetics, 2020-07, Vol.84 (4), p.345-351

2020

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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Nature (London), 2018-05, Vol.557 (7706), p.564-569

2018

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PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63566-n/a

2024

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

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2175-2180

2023

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

American journal of human genetics, 2019-07, Vol.105 (1), p.132-150

2019

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Untapped opportunities for rare disease gene discovery in India

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.3056-3059

2020

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Prioritization of candidate genes in “QTL-hotspot” region for drought tolerance in chickpea (Cicer arietinum L.)

Scientific reports, 2015-10, Vol.5 (1), p.15296-15296, Article 15296

2015

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Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Journal of human genetics, 2019-12, Vol.64 (12), p.1237-1242

2019

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Genetic disorders with central nervous system white matter abnormalities: An update

Clinical genetics, 2021-01, Vol.99 (1), p.119-132

2021

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An integrated SNP mining and utilization (ISMU) pipeline for next generation sequencing data

PloS one, 2014-07, Vol.9 (7), p.e101754-e101754

2014

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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.439-449

2022

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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

American journal of human genetics, 2016-06, Vol.98 (6), p.1243-1248

2016

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Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Clinical genetics, 2021-04, Vol.99 (4), p.594-600

2021

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Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Clinical genetics, 2024-07, Vol.106 (1), p.47-55

2024

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Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Clinical genetics, 2021-08, Vol.100 (2), p.201-205

2021

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NGS-QCbox and Raspberry for Parallel, Automated and Rapid Quality Control Analysis of Large-Scale Next Generation Sequencing (Illumina) Data

Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

Next generation sequencing and de novo transcriptome analysis of Costus pictus D. Don, a non-model plant with potent anti-diabetic properties

CicArMiSatDB: the chickpea microsatellite database

Whole Genome Sequencing and Comparative Genomic Analysis Reveal Allelic Variations Unique to a Purple Colored Rice Landrace ( Oryza sativa ssp. indica cv. Purpleputtu)

Trichothiodystrophy type 4 in an Indian family

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

Secondary metabolites from spice and herbs as potential multitarget inhibitors of SARS-CoV-2 proteins

The promise of discovering population-specific disease-associated genes in South Asia

De Novo transcriptome assembly (NGS) of Curcuma longa L. rhizome reveals novel transcripts related to anticancer and antimalarial terpenoids

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient

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

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Untapped opportunities for rare disease gene discovery in India

Prioritization of candidate genes in “QTL-hotspot” region for drought tolerance in chickpea (Cicer arietinum L.)

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Genetic disorders with central nervous system white matter abnormalities: An update

An integrated SNP mining and utilization (ISMU) pipeline for next generation sequencing data

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia

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