Julien Thevenon

30PUBLICATIONS
63CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Major global burdens of diseaseRecordkeeping informaticsMolecular targets
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Publications (30)

|Aug 22, 2026
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

|Mar 07, 2026
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.

Victor Marin, Hugo Lannes, Victor Dumont

|Sep 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Quentin Testard, Xavier Vanhoye, Kevin Yauy

|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Nicolas Bourgon, Aurore Garde, Ange-Line Bruel

|Feb 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Emilie Tisserant, Antonio Vitobello, Davide Callegarin

|Feb 02, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa

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Frequent Collaborators

4 joint publications

Paul Kuentz

4 joint publications

Martin Chevarin

3 joint publications

Sophie Nambot

3 joint publications

Ange-Line Bruel