Vijay Gupta

Hamad bin Khalifa University — QA

Biochemistry, Genetics and Molecular Biology · Life Sciences

21h-index1.4kcitations73works2.92yr avg
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Research Topics

Cellular transport and secretion(12), Genetics and Neurodevelopmental Disorders(11), Monoclonal and Polyclonal Antibodies Research(10), Genomics and Rare Diseases(7), Parkinson's Disease Mechanisms and Treatments(6)

Publications73 total

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Molecular Diagnosis & Therapy·2025· 1 citedOpen Access
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
International Journal of Molecular Sciences·2024· 4 citedOpen Access
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <scp><i>CNKSR2</i></scp> in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (<scp>MRXSHG</scp>)
American Journal of Medical Genetics Part A·2024Open Access
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
International Journal of Molecular Sciences·2024· 5 citedOpen Access
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
BMC Medical Genomics·2024· 5 citedOpen Access
COPII cage assembly factor Sec13 integrates information flow regulating endomembrane function in response to human variation
Scientific Reports·2024· 2 citedOpen Access
Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
Journal of Cellular and Molecular Medicine·2024· 6 citedOpen Access
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Human Mutation·2024Open Access
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
Frontiers in Psychiatry·2023· 13 citedOpen Access
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
Scientific Reports·2023· 5 citedOpen Access
Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells
Molecular Neurobiology·2023· 14 citedOpen Access
Digenic or oligogenic mutations in presumed monogenic disorders: A review
Journal of genetic medicine·2023· 5 citedOpen Access
Data from Biodistribution and Targeting of Anti-5T4 Antibody–Drug Conjugate Using Fluorescence Molecular Tomography
2023Open Access
Supplementary Figures S1-S4 and Legends from Biodistribution and Targeting of Anti-5T4 Antibody–Drug Conjugate Using Fluorescence Molecular Tomography
2023Open Access
Supplementary Figures S1-S4 and Legends from Biodistribution and Targeting of Anti-5T4 Antibody–Drug Conjugate Using Fluorescence Molecular Tomography
2023Open Access
Data from Biodistribution and Targeting of Anti-5T4 Antibody–Drug Conjugate Using Fluorescence Molecular Tomography
2023Open Access
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
Research Square (Research Square)·2023· 1 citedOpen Access
A circuit for secretion‐coupled cellular autonomy in multicellular eukaryotic cells
Molecular Systems Biology·2023· 13 citedOpen Access
Production of α-Synuclein Fibrillar-Specific scFv from Inclusion Bodies
Methods in molecular biology·2023
Structural and Biophysical Characterization of Stable Alpha-Synuclein Oligomers
International Journal of Molecular Sciences·2022· 15 citedOpen Access
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Frequent Co-authors

Hyung‐Goo Kim(11), Afif Ben‐Mahmoud(9), Lawrence C. Layman(6), G. Swarup(5), Nishant N. Vaikath(5), Inmaculada López-Sánchez(5), I‐Chung Lo(5), Marilyn G. Farquhar(5), Pradipta Ghosh(5), William E. Balch(5), Lawrence W. Stanton(5), Omar M. A. El‐Agnaf(5), Steven R. Blanke(4), Issam Hmila(4), Nicolas Aznar(4), Krishna Midde(4), Indulekha P. Sudhakaran(4), Simona S. Ghanem(4), Daniel Erskine(3), Madhavi Muppirala(3)