List of works - Aneek Das Bhowmik

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

scientific article published on 16 January 2018

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

scientific article published on 25 April 2016

Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals

scientific article published on 01 February 2007

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

scientific article published on 16 November 2011

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

scientific article published on 11 December 2017

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

scientific article published in May 2018

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

scientific article published on 22 January 2019

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

scientific article published on 05 December 2019

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

scientific article published on 29 July 2018

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

scientific article published on 01 March 2018

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

scientific article published on 12 November 2017

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

scientific article

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

scientific article published on 20 November 2018

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

scientific article published on 16 July 2016

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

scientific article

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

scientific article published on 07 May 2018

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

scientific article

Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.

scientific article published in February 2008

Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD.

scientific article published on 23 July 2013

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

scientific article published on 01 November 2018

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

scientific article published on 21 November 2017

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

scientific article published on 21 September 2016

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures

scientific article published on 18 June 2018

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

scientific article published on 27 August 2015

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

scientific article published on 21 November 2017

List of works by Aneek Das Bhowmik

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

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

Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals

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.

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

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

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 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

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

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

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

Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.

Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD.

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

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures

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

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

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures