Présentation
Ressources & publications
-
2017Journal (source)Nat. Genet.De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
-
2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
-
2016Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
-
2015Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
-
2014Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
-
2013Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
-
2009Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
-
2019Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
-
2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
-
2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
-
2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
-
2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
-
2021Journal (source)Am J Hum Genet
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
-
2021Journal (source)Nat Commun
Impaired eIF5A function causes a Mendelian disorder that is partially rescued...
-
2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
-
2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
-
2020Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...