Muzhirah Haniffa

Kuala Lumpur, Malaysia

Last Updated: 09/26/2026

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Found 12 publications

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 13, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Journal: Journal of medical genetics

Published: December 25, 2024

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 10, 2022

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Journal: Clinical genetics

Published: June 07, 2021

Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.

Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.

Journal: Journal of medical genetics

Published: September 08, 2020

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Journal: Human mutation

Published: June 20, 2020

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

Journal: Journal of human genetics

Published: January 17, 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal: Journal of human genetics

Published: July 15, 2019

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Journal: Epilepsia open

Published: August 12, 2018

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

Journal: Gene

Published: May 01, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026