P

Researcher Profile

Patricia Blanchet

2

Publications

148

Citations

10

Co-Authors

2

Active Years

Publications

Open Access Journal Article The American Journal of Human Genetics Nov 01, 2018

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Ina Schanze · Jens Bunt · Jonathan W.C. Lim · Denny Schanze +45 more

10.1016/j.ajhg.2018.10.006 64 citations

Open Access Journal Article PLOS Genetics Aug 31, 2017

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Patricia Blanchet · Martina Bebin · Shaam Bruet · Gregory M. Cooper +13 more

10.1371/journal.pgen.1006957 84 citations

Publication Timeline

2018

1

2017

1

Frequent Co-Authors

Caitlin J. Bridges

Constance Smith-Hicks

Laurence Faivre

Alisdair McNeill