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List of works by Zoe Powis

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

scientific article published on 01 June 2020

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

scientific article published on 5 October 2017

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

scientific article published on 11 August 2016

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

scientific article

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

scientific article published on 30 October 2019

Clinical whole-exome sequencing results impact medical management

article

De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

scientific article published on 18 December 2017

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

scientific article published on 30 November 2018

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

scientific article

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

scientific article published on 01 July 2018

MAGEL2-related disorders: A study and case series

scientific article published on 22 August 2019

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

scientific article published on 21 January 2019

When moments matter: Finding answers with rapid exome sequencing

scientific article published on 24 December 2019

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