Bharti Morar

50 Murray St
Perth, WA 6000, Australia

Last Updated: 09/26/2026

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Found 15 publications

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Journal: Human mutation

Published: July 02, 2018

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Journal: Neurology

Published: December 17, 2017

Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity.

Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity.

Journal: Schizophrenia research

Published: October 09, 2017

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

Journal: Neurology

Published: April 28, 2017

Longevity Klotho gene polymorphism and the risk of dementia in older men.

Longevity Klotho gene polymorphism and the risk of dementia in older men.

Journal: Maturitas

Published: March 06, 2017

The longevity gene Klotho is differentially associated with cognition in subtypes of schizophrenia.

The longevity gene Klotho is differentially associated with cognition in subtypes of schizophrenia.

Journal: Schizophrenia research

Published: December 14, 2016

Exome array analysis suggests an increased variant burden in families with schizophrenia.

Exome array analysis suggests an increased variant burden in families with schizophrenia.

Journal: Schizophrenia research

Published: July 17, 2016

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Journal: Human molecular genetics

Published: June 28, 2016

Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines.

Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines.

Journal: Genomics data

Published: February 25, 2016

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

Journal: Blood transfusion = Trasfusione del sangue

Published: October 16, 2015

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Journal: Molecular genetics and metabolism

Published: May 30, 2014

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Journal: American journal of human genetics

Published: November 21, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026