Vijay Gupta

Doha, DA, Qatar

Last Updated: 09/26/2026

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Found 25 publications

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Journal: Molecular diagnosis & therapy

Published: April 13, 2025

In-house assays for detecting anti-SARS-CoV-2 antibodies in serum and urine: Correlation with COVID-19 severity from a cohort study in Qatar.

In-house assays for detecting anti-SARS-CoV-2 antibodies in serum and urine: Correlation with COVID-19 severity from a cohort study in Qatar.

Journal: Journal of infection and public health

Published: December 10, 2024

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Journal: International journal of molecular sciences

Published: November 28, 2024

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Journal: International journal of molecular sciences

Published: October 09, 2024

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

Journal: Frontiers in psychiatry

Published: July 07, 2023

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Journal: Journal of cellular and molecular medicine

Published: June 25, 2023

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Journal: BMC medical genomics

Published: May 16, 2023

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Journal: Research square

Published: April 10, 2023

Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells.

Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells.

Journal: Molecular neurobiology

Published: March 02, 2023

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Journal: Scientific reports

Published: February 10, 2023

Showing 1-12 of 25

Last Updated: 09/26/2026