Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

Belgium

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About

Yves Sznajer is the Head and Coordinator at Cliniques Universitaires Saint-Luc, Center for Human Genetic in Belgium. His research focuses on genetic disorders, particularly exome sequencing, prenatal diagnoses, and phenotypic analyses in various syndromes. Recent articles authored by him include studies on common pitfalls in exome sequencing, targeted genomic sequencing of TSC1 and TSC2, and diagnostic evaluations in prenatal screening.

Articles (10)

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2023

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2023

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2023

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2023

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2022

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2021

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2021

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2021

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2021

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2020

Collaborators (15)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

Yves Sznajer

Research Interests

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Articles (10)

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

Fetal Vesicoallantoic Cyst and Intraabdominal Defects: An Unusual Case and Review of the Literature

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion

Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia.

Collaborators (15)

Claire-Sophie Davoine

Ludger Schöls

Sandrine PASSEMARD

Nathalie Fieremans

Sarah Weckhuysen

Giovanni Stevanin

Marek Turnovec

Manuel Posada

Mridul Johari

Jessica Alm

Massimiliano Rossi

Siddharth Banka

Shengjiang Tan

Gisèle Bonne

Tuomas Näreoja

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