Associated Papers
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte R et al.
Frontiers in Pediatrics, 2020
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
27572814 (PubMed )
Supplement: kuperberg_supp.pdf
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM et al.
Plos Genetics, 2016
26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.
Ji X et al.
Gene, 2014
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
Du H et al.
Plos One, 2014
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