Kim De Leeneer - Concepedia

Author

Kim De Leeneer

Also Known As

Angela Cox, Christoph Engel, Claudine Isaacs, DE LEENEER K, De Leeneer K., Jolanta Kupryjanczyk, Julie M Cunningham, K DE LEENEER, K De Leeneer, K. De Leeneer

121

Publications

4.3K

Citations

H-Index

Concepts

All Affiliations

Ghent University Hospital Ghent University Cancer Research Institute Ghent University of Cambridge McGill University

About

Kim De Leeneer is an author at Ghent University Hospital specializing in medicine, molecular diagnostics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	15	831
2	Public Health	6	6	490
3	Engineering	3	3	145
4	Health Sciences	1	1	20
5	Biomolecular Engineering	1	1	41

Kim De Leeneer

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer Timothy R. Rebbeck, Nandita Mitra, Fei Wan, JAMA	2015	484
Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Human Mutation Brca1 MutationsGenetic TestingGeneticsGenetic EpidemiologyMolecular Genetics	2018	298
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Genetics in Medicine	2019	158
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes Machteld Baetens, Lut Van Laer, Kim De Leeneer, Human Mutation Molecular DiagnosisGeneticsGenetic EpidemiologyPathologyMolecular Genetics	2011	82
Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms Kim De Leeneer, Ilse Coene, Bruce Poppe, Clinical Chemistry	2008	78
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Human Mutation EngineeringGeneticsDiagnostic SettingMolecular BiologyPathology	2011	71
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Clinical Chemistry	2013	69
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing Frederic Acke, Fransiska Malfait, Olivier Vanakker, Molecular Genetics and Metabolism Targeted NgsAutoimmune DiseaseMedicinePathogenesisImmunology	2014	56
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer Flavia Zita Francies, Tasha Wainstein, Kim De Leeneer, BMC Cancer	2015	54
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice Kim De Leeneer, Jan Hellemans, Wouter Steyaert, Human Mutation EngineeringGeneticsPathologyGenomicsHigh Throughput Sequencing	2014	51

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