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List of works by Ghayda Mirzaa

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ

scientific article published on 01 May 2018

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

scientific article published on 17 January 2018

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

scientific article

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

scientific article published on 31 July 2018

Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

scientific article published in 2022

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

scientific article published on 04 December 2020

Germline AGO2 mutations impair RNA interference and human neurological development

scientific article published on 16 November 2020

Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA

scientific article published on 15 November 2019

International consensus recommendations on the diagnostic work-up for malformations of cortical development

scientific article published on 07 September 2020

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR

scientific article published on 23 August 2019

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.

scientific article published on 19 October 2017

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