Publications by authors named "J P Fryns"

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Jean-Pierre Fryns

Mol Psychiatry· November 2019

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ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
Nele Cosemans, Laura Vandenhove, Jarymke Maljaars, Hilde Van Esch, Koenraad Devriendt, Jean-Pierre Fryns

Eur J Med Genet· July 2018

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, J-P Fryns

Mol Psychiatry· January 2016

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Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns

Am J Med Genet A· January 2016

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Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Alfredo Orrico, Lucia Galli, Jill Clayton-Smith, Jean-Pierre Fryns

Eur J Hum Genet· April 2015

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