Patrick Callier
0000-0002-9794-1848
5 papers found
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Assessing a new pre-screening score for the simplified evaluation of the clinical quality and relevance of e-health applications. (Preprint)
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
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
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