Ajoy Sarkar

Hucknall Road
Nottingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses.

Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses.

Journal: Genetics in medicine open
Published: July 29, 2025

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Journal: Genome medicine
Published: March 01, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine
Published: October 08, 2024

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open
Published: November 14, 2023

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Journal: Ophthalmic genetics
Published: January 25, 2023

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.

Journal: Scientific reports
Published: January 11, 2022

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Journal: American journal of human genetics
Published: October 11, 2019

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal: American journal of human genetics
Published: May 24, 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Journal: American journal of human genetics
Published: April 09, 2018

Bilateral NAION and GPIbα gene.

Bilateral NAION and GPIbα gene.

Journal: BMC ophthalmology
Published: March 15, 2018
Showing 1-12 of 21

Last Updated: 09/26/2026