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Global burden of genetic disease and the role of genetic screening

Seminars in fetal & neonatal medicine, 2015-10, Vol.20 (5), p.354-363

2015

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RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy

Brain & development (Tokyo. 1979), 2016-11, Vol.38 (10), p.937-942

2016

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802 Next generation sequencing for diagnosis of patients with hereditary breast and ovarian cancer

European journal of cancer (1990), 2015-09, Vol.51, p.S134-S134

2015

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Next Gen Sequencing Revolutionizes Molecular Diagnostics and Translational Medicine

Indian journal of clinical biochemistry, 2022-05, Vol.30 (S1), p.S1

Verma, I.C

2022

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1820 CTLA-4 +49 G/A polymorphism is associated with lymph node metastasis: A study in 500 North Indian breast cancer patients

European journal of cancer (1990), 2015-09, Vol.51, p.S272-S273

2015

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Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India

Indian heart journal, 2019-03, Vol.71 (2), p.118-122

2019

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Molecular studies in familial dilated cardiomyopathy – A pilot study

International journal of cardiology. Heart & vasculature, 2022-06, Vol.40, p.101023-101023, Article 101023

2022

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Research priorities in Maternal, Newborn, & Child Health & Nutrition for India: An Indian Council of Medical Research-INCLEN Initiative

Indian journal of medical research (New Delhi, India : 1994), 2017-05, Vol.145 (5), p.611

2017

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The study of prevalence of familial hypercholesterolemia in Indian patients with premature coronary artery disease

Indian heart journal, 2017-11, Vol.69 (S2), p.S91-S91

2017

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Molecular testing in Families with Familial Hypercholesterolemia in India

Indian heart journal, 2014-11, Vol.66 (S2), p.S27-S28

2014

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Utility of molecular studies in incontinentia pigmenti patients

Indian journal of medical research (New Delhi, India : 1994), 2011-04, Vol.133, p.442

2011

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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications

Blood cells, molecules, & diseases, 2003-07, Vol.31 (1), p.98-101

2003

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Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

Molecular syndromology, 2012-08, Vol.3 (2), p.89-93

2012

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Prevalence of CYP2C8 polymorphisms in a North Indian population

Genetics and molecular research, 2013-01, Vol.12 (3), p.2260-2266

2013

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Coronary risk factors and arcus cornealis in young patients of coronary artery disease with and without familial hypercholestrolemia

Atherosclerosis, 2020-12, Vol.315, p.e213-e213

2020

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Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Journal of hepatology, 2017-12, Vol.67 (6), p.1253-1264

2017

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Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders

Clinica chimica acta, 2021-10, Vol.521, p.177-190

2021

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Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease

Clinical biochemistry, 2021-03, Vol.89, p.14-37

2021

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Multiple Sclerosis in Keralite siblings after migration to the Middle East: A report of familial Multiple Sclerosis from India

Journal of the neurological sciences, 2007-09, Vol.260 (1), p.244-248

2007

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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

European journal of medical genetics, 2022-10, Vol.65 (10), p.104595-104595, Article 104595

2022

Volltextzugriff (PDF)

Prevalence Of Familial Hypercholesterolemia In Young Coronary Artery Disease Patients Admitted To A Referral Hospital In North India

Atherosclerosis, 2019-08, Vol.287, p.e213-e213

2019

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CDKN1C-Related Beckwith-Wiedemann Syndrome: First Patient from India

Journal of pediatric genetics (Birmingham, Ala.), 2023-03

2023

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Incidence of genetic mutations in patients with familial dilated cardiomyopathy

Indian heart journal, 2019-11, Vol.71, p.S26-S26

2019

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Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Clinical genetics, 2016-12, Vol.90 (6), p.496-508

2016

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Global burden of genetic disease and the role of genetic screening

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy

802 Next generation sequencing for diagnosis of patients with hereditary breast and ovarian cancer

Next Gen Sequencing Revolutionizes Molecular Diagnostics and Translational Medicine

1820 CTLA-4 +49 G/A polymorphism is associated with lymph node metastasis: A study in 500 North Indian breast cancer patients

Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India

Molecular studies in familial dilated cardiomyopathy – A pilot study

Research priorities in Maternal, Newborn, & Child Health & Nutrition for India: An Indian Council of Medical Research-INCLEN Initiative

The study of prevalence of familial hypercholesterolemia in Indian patients with premature coronary artery disease

Molecular testing in Families with Familial Hypercholesterolemia in India

Utility of molecular studies in incontinentia pigmenti patients

Recommendations for locus-specific databases and their curation

The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

Prevalence of CYP2C8 polymorphisms in a North Indian population

Coronary risk factors and arcus cornealis in young patients of coronary artery disease with and without familial hypercholestrolemia

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders

Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease

Multiple Sclerosis in Keralite siblings after migration to the Middle East: A report of familial Multiple Sclerosis from India

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

Prevalence Of Familial Hypercholesterolemia In Young Coronary Artery Disease Patients Admitted To A Referral Hospital In North India

CDKN1C-Related Beckwith-Wiedemann Syndrome: First Patient from India

Incidence of genetic mutations in patients with familial dilated cardiomyopathy

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

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