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List of works by Kirsty McWalter

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

scientific article published on 28 April 2020

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 01 November 2019

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

scientific article published on 22 January 2020

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Germline AGO2 mutations impair RNA interference and human neurological development

scientific article published on 16 November 2020

Hemoglobinopathy Newborn Screening Knowledge of Physicians ⬇️

scientific article published on 01 December 2011

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

scientific article published on 15 May 2020

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

scientific article published in 2022

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 03 June 2019

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