Madhura Bakshi

St Leonards, NSW, Australia

Last Updated: 09/26/2026

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Found 12 publications

Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.

Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.

Journal: Practical neurology

Published: May 20, 2025

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Journal: Blood advances

Published: December 04, 2023

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology

Published: August 24, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

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

Published: June 11, 2020

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Journal: European journal of human genetics : EJHG

Published: February 13, 2020

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Journal: Annals of neurology

Published: August 02, 2017

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Journal: Human mutation

Published: September 20, 2016

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: August 30, 2014

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

Journal: Nature genetics

Published: November 12, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026