List of works by Xia Wang

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

scientific article

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

scientific article published on 13 March 2017

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

scientific article

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

scientific article

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

scientific article published on 14 August 2017

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis

scientific article

The Drosophila melanogaster transcriptome by paired-end RNA sequencing

scientific article

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome

scientific article published on 09 July 2020

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

scientific article published on 26 January 2017

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

scientific article published on 23 September 2011

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