Article
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
European journal of human genetics : EJHG - 1 Jan 2018
Jansen Sandra, Hoischen Alexander, Coe Bradley P, Carvill Gemma L, Van Esch Hilde, Bosch Daniëlle G M, Andersen Ulla A, Baker Carl, Bauters Marijke, Bernier Raphael A, van Bon Bregje W, Claahsen-van der Grinten Hedi L, Gecz Jozef, Gilissen Christian, Grillo Lucia, Hackett Anna, Kleefstra Tjitske, Koolen David, Kvarnung Malin, Larsen Martin J, Marcelis Carlo, McKenzie Fiona, Monin Marie-Lorraine, Nava Caroline, Schuurs-Hoeijmakers Janneke H, Pfundt Rolph, Steehouwer Marloes, Stevens Servi J C, Stumpel Connie T, Vansenne Fleur, Vinci Mirella, van de Vorst Maartje, Vries Petra de, Witherspoon Kali, Veltman Joris A, Brunner Han G, Mefford Heather C, Romano Corrado, Vissers Lisenka E L M, Eichler Evan E, de Vries Bert B A
Abstract excerpt
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275...
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