List of works - David Chitayat

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome

scientific article published on 27 December 2018

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

scientific article published on 09 May 2019

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()

scientific article published on 02 August 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

scientific article published on 29 October 2020

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

scientific article published on 5 April 2018

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management

scientific article published on 16 July 2019

Fetal myelomeningocele surgery: Only treating the tip of the iceberg

scientific article published on 10 December 2018

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

scientific article published on 16 January 2019

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

scientific article published on 15 May 2019

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants

scientific article published on 07 June 2020

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection