Kornelia Neveling

Overview

Best Publications

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

  Alfons Meindl;Heide Hellebrand;Constanze Wiek;Verena Erven

  894
  Citations

• Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

  Sarah Reid;Detlev Schindler;Helmut Hanenberg;Helmut Hanenberg;Karen Barker

  742
  Citations

• Mutation of the RAD51C gene in a Fanconi anemia-like disorder

  Fiona Vaz;Helmut Hanenberg;Helmut Hanenberg;Beatrice Schuster;Karen Barker

  467
  Citations

• The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

  Orna Levran;Claire Attwooll;Rashida T Henry;Kelly L Milton

  465
  Citations

• A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

  Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  430
  Citations

• Next-generation genetic testing for retinitis pigmentosa.

  Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  339
  Citations

• FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

  Ashley E Sims;Elizabeth Spiteri;Robert J Sims;Adriana G Arita

  320
  Citations

• Disruption of an EHMT1-Associated Chromatin- Modification Module Causes Intellectual Disability

  Tjitske Kleefstra;Jamie M. Kramer;Kornelia Neveling;Marjolein H. Willemsen

  279
  Citations

• Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.)

  Maartje Ahj van Kessel;Bas E Dutilh;Bas E Dutilh;Kornelia Neveling;Michael P Kwint

  244
  Citations

• Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

  David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  240
  Citations

• FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.

  Chen Ling;Masamichi Ishiai;Abdullah Mahmood Ali;Annette L Medhurst

  192
  Citations

• Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

  Kornelia Neveling;Lilian A. Martinez-Carrera;Irmgard Hölker;Angelien Heister

  185
  Citations

• Genotype-phenotype correlations in Fanconi anemia.

  Kornelia Neveling;Daniela Endt;Holger Hoehn;Detlev Schindler

  175
  Citations

• Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

  Massimo Bogliolo;Alex Lyakhovich;Elsa Callén;Maria Castellà

  172
  Citations

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

  Sascha Vermeer;Alexander Hoischen;Rowdy P.P. Meijer;Christian Gilissen

  170
  Citations

• Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

  Reinhard Kalb;Kornelia Neveling;Holger Hoehn;Hildegard Schneider

  167
  Citations

• Optical genome mapping enables constitutional chromosomal aberration detection

  Tuomo Mantere;Tuomo Mantere;Kornelia Neveling;Céline Pebrel-Richard;Marion Benoist

  164
  Citations

• Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

  Judith E. Grolleman;Richarda M. de Voer;Fadwa A. Elsayed;Maartje Nielsen

  154
  Citations

• Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags.

  Astrid Eijkelenboom;Eveline J. Kamping;Annemiek W. Kastner-van Raaij;Sandra J. Hendriks-Cornelissen

  135
  Citations

• Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping

  Kornelia Neveling;Tuomo Mantere;Tuomo Mantere;Susan Vermeulen;Michiel Oorsprong

  132
  Citations