Yves Sznajer

5PUBLICATIONS
101CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Respiratory diseasesGene mappingNeonatologyImage processing
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Publications (5)

|Aug 10, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

|Apr 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Murat Alpaslan, Elodie Fastré, Sandrine Mestre

|Mar 01, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Ana Töpf, Dan Cox, Irina T Zaharieva

|May 22, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.

Joke Muys, Yves Jacquemyn, Bettina Blaumeiser

|Jun 06, 2019
PEDIA: prioritization of exome data by image analysis.

Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel

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Frequent Collaborators

2 joint publications

Koenraad Devriendt

2 joint publications

Nicole Revencu

1 joint publications

Martin A Mensah

1 joint publications

Jean T Pantel