Patrick Callier
8PUBLICATIONS
93CO-AUTHORS
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Publications (8)
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|Feb 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.Alicia Coudert, Pauline Le Tanno, William Dufour
|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina
|Jul 05, 2022
Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study.Nicolas Wagneur, Patrick Callier, Jean-David Zeitoun
|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
|Oct 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.Frederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello
|Jun 04, 2021
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them
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Frequent Collaborators
6 joint publications
Laurence Faivre
3 joint publications
Ange-Line Bruel
2 joint publications
Paul Kuentz
2 joint publications
Julian Delanne
2 joint publications
Anne-Laure Mosca-Boidron
1 joint publications
Caroline Schluth-Bolard
1 joint publications
Benedicte Demeer
1 joint publications
François Lecoquierre
1 joint publications
Quentin Thomas
1 joint publications
Antonio Vitobello
