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Yves Sznajer | Researchclopedia

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Yves Sznajer

Cliniques Universitaires Saint-Luc ORCID

132

Works

4,201

Citations

35

h-index

64

i10-index

Research Topics

Genomic variations and chromosomal abnormalities RNA modifications and cancer Genomics and Rare Diseases

Affiliations

Twitter (United States)2021–2021

Cliniques Universitaires Saint-Luc2011–2025

Université Libre de Bruxelles1999–2010

Hudson Institute2018–2020

Pediatric Oncology Group2004–2004

Top Works

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau,Marie Goulet,et al.

2009255 citations

Genetics and Neurodevelopmental Disorders

Galectins and Cancer Biology

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

Eleonora Gambineri,L Perroni,et al.

2008222 citations

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric,Sara Gonçalves,et al.

2017205 citations

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Jessica C. de Greef,Jun Wang,et al.

2011197 citations

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès,Nataliya Di Donato,et al.

2014172 citations

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański,Tomasz Gambin,et al.

2016168 citations

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens,Alejandro Garanto,et al.

2019162 citations

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp,Ofir T. Betsalel,et al.

2013162 citations

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert,Lore Lannoo,et al.

2021125 citations