Presentation
Scientific Publications
-
2021Journal (source)Med (N Y)A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
-
2016Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
-
2015Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
-
2012Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
-
2011Journal (source)Nat. Genet.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects...
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Epistasis between RET and BBS mutations modulates enteric innervation and cau...
-
2008Journal (source)Nature
Somatic and germline activating mutations of the ALK kinase receptor in neuro...