List of works - Bharti Morar

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

scientific article published on 27 June 2018

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

scientific article published in August 1998

A newly discovered founder population: the Roma/Gypsies

scientific article

A novel GEFS+ locus on 12p13.33 in a large Roma family

scientific article published on 13 September 2011

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

article

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

scientific article

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

scientific article

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

article

Deleterious GRM1 mutations in schizophrenia

scientific article

Evaluation of association of SNPs in the TNF alpha gene region with schizophrenia

article

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

scientific article

Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

scientific article published in September 2011

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

scientific article published on 21 July 2014

Genealogy and genes: tracing the founding fathers of Tristan da Cunha

scientific article

Genetic substructure in South African Bantu-speakers: Evidence from autosomal DNA and Y-chromosome studies

article

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia

scientific article published on 14 March 2012

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

scientific article

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

scientific article

KIBRA genetic polymorphism influences episodic memory in later life, but does not increase the risk of mild cognitive impairment

scientific article

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

scientific article

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

scientific article published on 8 April 2017

Mutation history of the roma/gypsies

scientific article

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

article

Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition

scientific article

Origins and divergence of the Roma (gypsies)

scientific article

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

scientific article (publication date: October 2003)

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

scientific article published on 23 March 2009

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

scientific article published on 10 February 2011

Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia

scientific article published on 4 October 2011

Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia

scientific article

Roma (Gypsies): Genetic Studies

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

scientific article published on 11 May 2016

The Genetic Trail to Madagascar

The Human Genome as Archive: Some Illustrations from the South

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

scientific article

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

scientific article

The molecular characterization of Gaucher disease in South Africa

scientific article published in August 1996

The molecular characterization of Gaucher disease in South Africa

article

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

scientific article published on 9 August 2016

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

scientific article

Vlax Roma history: what do coalescent-based methods tell us?

scientific article published on 01 April 2004

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

scientific article

List of works by Bharti Morar

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

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

A newly discovered founder population: the Roma/Gypsies

A novel GEFS+ locus on 12p13.33 in a large Roma family

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

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

Deleterious GRM1 mutations in schizophrenia

Evaluation of association of SNPs in the TNF alpha gene region with schizophrenia

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

Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

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

Genealogy and genes: tracing the founding fathers of Tristan da Cunha

Genetic substructure in South African Bantu-speakers: Evidence from autosomal DNA and Y-chromosome studies

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia

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

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

KIBRA genetic polymorphism influences episodic memory in later life, but does not increase the risk of mild cognitive impairment

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

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

Mutation history of the roma/gypsies

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition

Origins and divergence of the Roma (gypsies)

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia

Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia

Roma (Gypsies): Genetic Studies

Roma (Gypsies): Genetic Studies

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

The Genetic Trail to Madagascar

The Human Genome as Archive: Some Illustrations from the South

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

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

The molecular characterization of Gaucher disease in South Africa

The molecular characterization of Gaucher disease in South Africa

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

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

Vlax Roma history: what do coalescent-based methods tell us?

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