Kornelia Neveling

Targeted Next Generation Sequencing As A Powerful Diagnostic Tool For RP

Christian Gilissen, Joris A. Veltman, Kornelia Neveling, 2011 .

Optical genome mapping enables constitutional chromosomal aberration detection.

Alexander Hoischen, Caroline Schluth-Bolard, Damien Sanlaville, 2021, American journal of human genetics.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Christian Gilissen, Annette Schenck, Koenraad Devriendt, 2012, American journal of human genetics.

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Franca Fraternali, Nazneen Rahman, Christopher G Mathew, 2010, Nature Genetics.

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Dieter Niederacher, Alfons Meindl, Bertram Müller-Myhsok, 2010, Nature Genetics.

Genotype-phenotype correlations in Fanconi anemia.

Kornelia Neveling, H. Hoehn, D. Schindler, 2009, Mutation research.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Caroline C W Klaver, Klaus Rohrschneider, Susanne Roosing, 2013, American journal of human genetics.

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.

Next-generation genetic testing for retinitis pigmentosa

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