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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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Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

Journal of human genetics, 2014-08, Vol.59 (8), p.444-453

2014

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Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1633-n/a

2021

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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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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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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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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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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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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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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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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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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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Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features

Movement disorders clinical practice (Hoboken, N.J.), 2021-01, Vol.8 (1), p.164-165

2021

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Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic

Ecancermedicalscience, 2024, Vol.18, p.1670-1670

2024

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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

BioMed research international, 2015-01, Vol.2015 (2015), p.1-10

2015

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Adult‐Onset Myoclonus‐Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian ADCY5‐related Dyskinesia

Movement disorders clinical practice (Hoboken, N.J.), 2019-03, Vol.6 (3), p.267-268

2019

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Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization

The journal of maternal-fetal & neonatal medicine, 2019-12, Vol.32 (24), p.4177-4180

2019

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Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

PloS one, 2018-12, Vol.13 (12), p.e0209943-e0209943

2018

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Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dyskinesia

Movement disorders clinical practice (Hoboken, N.J.), 2022-04, Vol.9 (3), p.390-393

2022

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Retinoblastoma genetics screening and clinical management

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

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

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

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

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

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

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

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

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

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

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

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

Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Adult‐Onset Myoclonus‐Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian ADCY5‐related Dyskinesia

Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dyskinesia

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