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Analysis and Prioritisation of Potential Gene Variants Powered by Semantic Intelligence

Proceedings of the 3rd ACM India Joint International Conference on Data Science & Management of Data (8th ACM IKDD CODS & 26th COMAD), 2021, p.390-394

2021

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Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals

Psychiatric genetics, 2007-02, Vol.17 (1), p.5

2007

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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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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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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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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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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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Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

Molecular syndromology, 2019, Vol.10 (3), p.177-182

2019

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Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned

Molecular syndromology, 2019-05, Vol.10 (3), p.177-182

2019

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

Human mutation, 2021-03, Vol.42 (4), p.e15-e61

2021

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Dopamine receptor D4 exon 3 variable number of tandem repeat polymorphism: Distribution in eastern Indian population

Indian journal of human genetics, 2007-05, Vol.13 (2), p.54-58

2007

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A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series

Fetal and pediatric pathology, 2018-01, Vol.37 (1), p.49-68

2018

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Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

Prenatal diagnosis, 2020-01, Vol.40 (2), p.260-273

2020

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

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

2018

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Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

European journal of medical genetics, 2018-07, Vol.61 (7), p.399-402

2018

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Familial choreoathetosis due to novel heterozygous mutation in PDE10A

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.146-150

2018

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

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

2016

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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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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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Analysis and Prioritisation of Potential Gene Variants Powered by Semantic Intelligence

Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals

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

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

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

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

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

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned

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

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

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

Dopamine receptor D4 exon 3 variable number of tandem repeat polymorphism: Distribution in eastern Indian population

A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

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

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

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

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

Familial choreoathetosis due to novel heterozygous mutation in PDE10A

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

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

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

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

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

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