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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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Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.499-501

2018

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Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Journal of human genetics, 2018-08, Vol.63 (8), p.927-933

2018

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Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

Journal of human genetics, 2019-02, Vol.64 (2), p.183-189

2019

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Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Journal of human genetics, 2018-01, Vol.63 (1), p.19-25

2018

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Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis

The journal of obstetrics and gynaecology research, 2018-12, Vol.44 (12), p.2181-2185

2018

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Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy

Neurology India, 2018-11, Vol.66 (6), p.1812-1814

2018

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Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.238-248

2023

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Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

Genomics (San Diego, Calif.), 2019-09, Vol.111 (5), p.1108-1114

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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Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1200-1206

2018

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Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability

Progress in neuro-psychopharmacology & biological psychiatry, 2011-08, Vol.35 (7), p.1714-1722

2011

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Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1622-1625

2016

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Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.34-40

2018

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Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in schwartz jampel syndrome type 1 using whole exome sequencing

Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.809-814

2016

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Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

Indian journal of medical research (New Delhi, India : 1994), 2015-08, Vol.142 (2), p.220-224

2015

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Role of gene–gene/gene–environment interaction in the etiology of eastern Indian ADHD probands

Progress in neuro-psychopharmacology & biological psychiatry, 2011-03, Vol.35 (2), p.577-587

2011

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Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

Indian journal of pediatrics, 2016-04, Vol.83 (4), p.354-355

2016

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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2486-2489

2016

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Association of XRCC1, XRCC3, and NAT2 polymorphisms with the risk of oral submucous fibrosis among eastern Indian population

Journal of oral pathology & medicine, 2012-04, Vol.41 (4), p.292-302

2012

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MAOA promoter polymorphism and attention deficit hyperactivity disorder (ADHD) in indian children

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-09, Vol.141B (6), p.637-642

2006

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Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome

Gene, 2015-11, Vol.572 (2), p.303-306

2015

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Association of monoamine oxidase A and serotonin transporter gene functional variants with intellectual disability related behavioral problems

Psychiatric genetics, 2012-06, Vol.22 (3), p.152

2012

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Screening of rural children in West Bengal for fragile-X syndrome

Indian journal of medical research (New Delhi, India : 1994), 2009-12, Vol.130 (6), p.714

2009

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IODINE AS A POTENTIAL FRONT-LINE DEFENSE AGAINST COVID-19: A LITERATURE REVIEW

Asian journal of pharmaceutical and clinical research, 2023-07, p.13-19

2023

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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

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis

Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy

Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in schwartz jampel syndrome type 1 using whole exome sequencing

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

Role of gene–gene/gene–environment interaction in the etiology of eastern Indian ADHD probands

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

Association of XRCC1, XRCC3, and NAT2 polymorphisms with the risk of oral submucous fibrosis among eastern Indian population

MAOA promoter polymorphism and attention deficit hyperactivity disorder (ADHD) in indian children

Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome

Association of monoamine oxidase A and serotonin transporter gene functional variants with intellectual disability related behavioral problems

Screening of rural children in West Bengal for fragile-X syndrome

IODINE AS A POTENTIAL FRONT-LINE DEFENSE AGAINST COVID-19: A LITERATURE REVIEW

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