Jamal Nasir - Publications

The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals.

Journal: Ophthalmic genetics

Published: May 08, 2026

Accuracy of non-invasive electrocardiographic imaging in scar-dependent ventricular tachycardia: relationship to arrhythmogenic substrate and imaging defined scar.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: January 16, 2026

Correction: De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Journal: Human genomics

Published: October 25, 2025

Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049].

Journal: Molecular genetics and metabolism

Published: April 10, 2025

Carboxypeptidase D deficiency causes hearing loss amenable to treatment.

Journal: The Journal of clinical investigation

Published: February 07, 2025

The Key Features of a Genetic Nondiscrimination Policy: A Delphi Consensus Statement.

Journal: JAMA network open

Published: September 26, 2024

Defining and pursuing diversity in human genetic studies.

Journal: Nature genetics

Published: September 09, 2024

Structure and phase changes of alumina produced by flame hydrolysis.

Journal: Dalton transactions (Cambridge, England : 2003)

Published: August 12, 2024

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.

Journal: Molecular genetics and metabolism

Published: June 20, 2024

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy.

Journal: medRxiv : the preprint server for health sciences

Published: November 14, 2023

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Journal: Human genomics

Published: August 04, 2022

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 21, 2022