Rolph Pfundt

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NGS in diagnostics - where things can go wrong

Christian Gilissen, Marcel Nelen, Helger Yntema, 2021 .

Next generation sequencing in synovial sarcoma reveals novel gene mutations

Rolph Pfundt, R. Pfundt, B. Tops, 2015, Oncotarget.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Gert Jan van der Wilt, Janneke Grutters, Han G Brunner, 2017, Genetics in Medicine.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Fabio Macciardi, Andrea Calabria, Michele Fimiani, 2010, American journal of human genetics.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

Erik Sistermans, Nicole de Leeuw, Rolph Pfundt, 2009, Human mutation.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Birgit Sikkema-Raddatz, Christian R Marshall, Stephen W Scherer, 2010, European Journal of Human Genetics.

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Saskia B Wortmann, Rolph Pfundt, R. Pfundt, 2011, European Journal of Human Genetics.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.

Rolph Pfundt, R. Pfundt, I. Janssen, 2005, Blood.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

Annet Simons, Rolph Pfundt, R. Pfundt, 2014, Molecular Cytogenetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

Luminita Moruz, Andreas Dufke, Olaf Riess, 2009, Human mutation.

The clustering of functionally related genes contributes to CNV-mediated disease

Caleb Webber, Bert de Vries, Nicole de Leeuw, 2015, Genome research.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing

Todd Richmond, Rolph Pfundt, L. Vissers, 2013, Human mutation.

Diagnostic genome profiling in mental retardation.

Ton Feuth, Martijn A. R. Leisink, Erik A Sistermans, 2005, American journal of human genetics.