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Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

American journal of human genetics, 2011-12, Vol.89 (6), p.745-750

2011

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A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Human mutation, 2021-04, Vol.42 (4), p.e15-e61

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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Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario

Indian journal of medical research (New Delhi, India : 1994), 2017-12, Vol.146 (6), p.689

2017

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Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes

Indian pacing and electrophysiology journal, 2016-01, Vol.16 (1), p.8-18

2016

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A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

The New England journal of medicine, 2021-09, Vol.385 (14), p.1292-1301

2021

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Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.953-956

2020

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Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

Indian journal of gastroenterology, 2020-12, Vol.39 (6), p.599-607

2020

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Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease

European journal of medical genetics, 2020-03, Vol.63 (3), p.103734-103734, Article 103734

2020

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Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges

Indian journal of pediatrics, 2016-10, Vol.83 (10), p.1131-1132

2016

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Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene

Indian journal of pediatrics, 2018-02, Vol.85 (2), p.87-92

2018

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Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D

Clinical dysmorphology, 2018-10, Vol.27 (4), p.130-134

2018

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Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study

Journal of clinical lipidology, 2020-01, Vol.14 (1), p.35-45

2020

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Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

Prenatal diagnosis, 2015-11, Vol.35 (11), p.1137-1147

2015

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The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

Journal of fetal medicine, 2023-04, Vol.10 (1), p.009-015

2023

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Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

American journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.76-81

2013

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Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Annals of human genetics, 2018-09, Vol.82 (5), p.309-317

2018

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Inherited metabolic disorders: Quality management for laboratory diagnosis

Clinica chimica acta, 2015-07, Vol.447, p.1-7

2015

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KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1510-1519

2016

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Novel and recurrent mutations in WISP3 and an atypical phenotype

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2481-2484

2015

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MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13+6 weeks gestation

Hypertension in pregnancy, 2016-11, Vol.35 (4), p.548-558

2016

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Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

Indian journal of pediatrics, 2016-11, Vol.83 (11), p.1341-1345

2016

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Indian journal of medical research (New Delhi, India : 1994), 2015-10, Vol.142 (4), p.414-425

2015

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Indian National Association for the Study of the Liver—Federation of Obstetric and Gynaecological Societies of India Position Statement on Management of Liver Diseases in Pregnancy

Journal of clinical and experimental hepatology, 2019-05, Vol.9 (3), p.383-406

2019

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Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

Journal of cellular biochemistry, 2014-03, Vol.115 (3), p.566-574

2014

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Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

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

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease

Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges

Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Inherited metabolic disorders: Quality management for laboratory diagnosis

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1

Novel and recurrent mutations in WISP3 and an atypical phenotype

MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13+6 weeks gestation

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Indian National Association for the Study of the Liver—Federation of Obstetric and Gynaecological Societies of India Position Statement on Management of Liver Diseases in Pregnancy

Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

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