1.
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
by Piton, Amélie
American journal of human genetics, 2013-08-08, Vol.93 (2), p.368-383
2.
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
by Redin, Claire
Journal of medical genetics, 2012-08, Vol.49 (8), p.502-512
3.
DPY19L2 Deletion as a Major Cause of Globozoospermia
by Koscinski, Isabelle
American journal of human genetics, 2011, Vol.88 (3), p.344-350
4.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
by Ordulu, Zehra
American journal of human genetics, 2016-11-03, Vol.99 (5), p.1015-1033
5.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
by Schaefer, Elise
Journal of human genetics, 2016-05, Vol.61 (5), p.447-450
6.
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
by Piton, Amélie
American journal of human genetics, 2013-08-08, Vol.93 (2), p.406-406
7.
DPY19L2 Deletion as a Major Cause of Globozoospermia
by Koscinski, Isabelle
American journal of human genetics, 2011-04-08, Vol.88 (4), p.517-517
8.
MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
by Bronicki, Lucas
Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A2-A3
