List of works - Maya Chopra

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

scientific article published on 7 December 2017

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

scientific article published on 30 May 2018

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome

scientific article published on 01 October 2016

AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing.

scientific article

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

scientific article

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

scientific article published on 15 June 2015

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

scientific article published on 27 July 2016

Duodenal atresia: consider Feingold syndrome.

scientific article published in March 2010

Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.

scientific article

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

scientific article published on 21 November 2017

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

scientific article published on 8 February 2014

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

scientific article published on 24 January 2022

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

scientific article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

scientific article

Pierpont syndrome: a collaborative study.

scientific article published on 10 August 2011

Rare genetic disease in China: a call to improve clinical services.

scientific article published on 29 October 2015

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

scientific article published on 29 March 2016

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

scientific article

The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.

scientific article

Unusual cause of hyperbilirubinaemia in a preterm baby.

scientific article published on 3 June 2015

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 24 December 2019

List of works by Maya Chopra

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome

AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing.

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

Duodenal atresia: consider Feingold syndrome.

Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Pierpont syndrome: a collaborative study.

Rare genetic disease in China: a call to improve clinical services.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.

Unusual cause of hyperbilirubinaemia in a preterm baby.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder