Patrick Callier
Université de Bourgogne(FR)CHU Dijon Bourgogne(FR)Maison des Sciences sociales et des Humanités de Dijon(FR)Laboratoire de Génétique Cellulaire(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans(2011)306 cited
- → Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test(2016)267 cited
- → Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants(2018)220 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 cited
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited