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List of works by Patrick Rump

Germline AGO2 mutations impair RNA interference and human neurological development

scientific article published on 16 November 2020

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

scientific article published in August 2016

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

scientific article published on 29 April 2019

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

scientific article published on 20 February 2021

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

scientific article published on 8 March 2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Variants in CUL4B are associated with cerebral malformations

scientific article

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