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Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1904-1908

2022

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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2339-2350

2022

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Human mutation, 2021-10, Vol.42 (10), p.1336-1350

2021

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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.174-174, Article 174

2018

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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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Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

Pharmacological reports, 2013-01, Vol.65 (1), p.187-194

2013

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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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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Journal of the American Society of Nephrology, 2021-01, Vol.32 (1), p.223-228

2021

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Next Generation Sequencing in the Clinic

Indian journal of pediatrics, 2016-04, Vol.83 (4), p.281-282

Dua Puri, Ratna

2016

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Down Syndrome in India—Diagnosis, Screening, and Prenatal Diagnosis

Clinics in laboratory medicine, 2012-06, Vol.32 (2), p.231-248

2012

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The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.480-485

2019

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study

BMC medical genetics, 2020-11, Vol.21 (1), p.216-216, Article 216

2020

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Implications of CYP21A2 Gene Duplications in Carrier Screening and Prenatal Diagnosis of Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency

Indian Pediatrics Case Reports, 2022-01, Vol.2 (1), p.47-51

2022

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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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Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

Annals of the Indian Academy of Neurology, 2020-05, Vol.23 (3), p.347-351

2020

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Unclassified Sudden Infant Death Due to Congenital Long QT Syndrome with TRPM4 Mutation

Indian Pediatrics Case Reports, 2021-01, Vol.1 (1), p.57-61

2021

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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

Journal of obstetrics and gynaecology of India, 2021-04, Vol.71 (2), p.156-167

2021

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Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva

Indian journal of pediatrics, 2024-08, Vol.91 (8), p.771-772

Puri, Ratna Dua

2024

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Mutation-proved Clouston syndrome in a large Indian family with a variant phenotype

Indian journal of dermatology, 2019-03, Vol.64 (2), p.143-145

2019

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Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

Genetic testing and molecular biomarkers, 2016-07, Vol.20 (7), p.373-382

2016

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Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100561-100561, Article 100561

2020

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Fetal valproate syndrome as a phenocopy of Kleefstra syndrome

Birth defects research, 2018-09, Vol.110 (15), p.1205-1209

2018

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Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

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

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Next Generation Sequencing in the Clinic

Down Syndrome in India—Diagnosis, Screening, and Prenatal Diagnosis

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study

Implications of CYP21A2 Gene Duplications in Carrier Screening and Prenatal Diagnosis of Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency

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

Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

Unclassified Sudden Infant Death Due to Congenital Long QT Syndrome with TRPM4 Mutation

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Mutation-proved Clouston syndrome in a large Indian family with a variant phenotype

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome

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