List of works - Anju Shukla

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy

scientific article published on 10 July 2019

A novel sequence variant in SFRP4 causing Pyle disease

scientific article published on 19 January 2017

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

scientific article published on 15 June 2017

A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients

scientific article published on 18 June 2013

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

scientific article published on 27 June 2019

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

scientific article published on 29 November 2016

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

scientific article published on 31 October 2019

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

scientific article

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

scientific article published on 27 December 2019

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

scientific article published on 18 March 2020

Central nervous system mycosis: analysis of 10 cases

scientific article published on October 2014

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

scientific article published on 16 April 2015

Clinical utility of fetal autopsy and its impact on genetic counseling.

scientific article published on 5 April 2015

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients

scientific article published on January 2014

Congenital omphalocele and cleft palate in two fetuses.

scientific article published on 11 February 2016

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Cytokine gene polymorphisms in northern Indian women with recurrent miscarriages ⬇️

scientific article published on October 9, 2012

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

scientific article

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

scientific article published on 6 August 2013

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

scientific article published on 16 May 2018

Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update

scientific article published on 12 October 2020

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

scientific article

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

scientific article published on 12 July 2017

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

scientific article published on 30 March 2017

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

scientific article published on 7 March 2017

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

scientific article published on 28 February 2019

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

scientific article

Interference of hemoglobin D Punjab on measurements of glycated hemoglobin

scientific article published on October 2015

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

scientific article published on 27 November 2018

Meckel syndrome: Clinical and mutation profile in six fetuses

scientific article published on 21 August 2019

Multicentric Osteolysis Nodulosis and Arthropathy

scientific article

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis

scientific article published on January 2016

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature

scientific article published on 02 March 2020

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome

scientific article published on 29 September 2020

Progressive Pseudorheumatoid Dysplasia

scientific article

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

scientific article published on 13 July 2017

Recurrent and novel GLB1 mutations in India

scientific article

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

scientific article

Should factor V Leiden mutation and prothrombin gene polymorphism testing be done in women with recurrent miscarriage from North India? ⬇️

scientific article published on September 19, 2012

Spectrum of urorectal septum malformation sequence

scientific article published on 10 December 2015

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

scientific article published on 14 September 2016

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities

scientific article published on 02 April 2019

List of works by Anju Shukla

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy

A novel sequence variant in SFRP4 causing Pyle disease

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

Central nervous system mycosis: analysis of 10 cases

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Clinical utility of fetal autopsy and its impact on genetic counseling.

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients

Congenital omphalocele and cleft palate in two fetuses.

Cornelia de Lange syndrome in diverse populations

Cytokine gene polymorphisms in northern Indian women with recurrent miscarriages ⬇️

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update

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

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

Interference of hemoglobin D Punjab on measurements of glycated hemoglobin

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

Meckel syndrome: Clinical and mutation profile in six fetuses

Multicentric Osteolysis Nodulosis and Arthropathy

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome

Progressive Pseudorheumatoid Dysplasia

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

Recurrent and novel GLB1 mutations in India

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Should factor V Leiden mutation and prothrombin gene polymorphism testing be done in women with recurrent miscarriage from North India? ⬇️

Spectrum of urorectal septum malformation sequence

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities