Nienke Wieskamp

发表

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Jeroen F. J. Laros, R. Pfundt, G. Thijs, 2019, Human mutation.

Massively parallel sequencing of ataxia genes after array‐based enrichment

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Human mutation.

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.

J. Veltman, C. Gilissen, S. Riazuddin, 2012, Archives of medical research.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Caleb Webber, Chris P. Ponting, Christian Gilissen, 2010, PLoS Comput. Biol..

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

P. Gasparini, D. Vozzi, H. Scheffer, 2012, PloS one.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

A. Hoischen, T. Strom, J. Veltman, 2010, American journal of human genetics.

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

Detecting de novo mutations in intellectual disability.

A. Hoischen, J. Veltman, H. Brunner, 2014 .

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.