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Jayne Y Hehir-Kwa

Showing results (1-10 of 68) with videos related to

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Science (New York, N.Y.)|January 2, 2025
Inherited genome instabilityJayne Y Hehir-Kwa, Geoff Macintyre
Expert Review of Molecular Diagnostics|June 20, 2015
Exome sequencing and whole genome sequencing for the detection of copy number variationJayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman
Expert Review of Molecular Diagnostics|September 18, 2018
The clinical implementation of copy number detection in the age of next-generation sequencingJayne Y Hehir-Kwa, Bastiaan B J Tops, Patrick Kemmeren
NPJ Precision Oncology|March 3, 2021
Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncologyIanthe A E M van Belzen, Alexander Schönhuth, Patrick Kemmeren, et al.
DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes|March 17, 2007
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysisJayne Y Hehir-Kwa, Michael Egmont-Petersen, Irene M Janssen, et al.
Plos Genetics|June 27, 2009
Forging links between human mental retardation-associated CNVs and mouse gene knockout modelsCaleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, et al.
Journal of Medical Genetics|October 5, 2011
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Autism Research : Official Journal of the International Society for Autism Research|January 28, 2022
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversionsHelle Lybaek, Michael Robson, Nicole de Leeuw, et al.
Journal of Medical Genetics|October 5, 2014
Clinical interpretation of CNVs with cross-species phenotype dataSebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, et al.
Pageof 7

Showing results (1-10 of 68) with videos related to

Sort By:
Pageof 7
Science (New York, N.Y.)|January 2, 2025
Inherited genome instabilityJayne Y Hehir-Kwa, Geoff Macintyre
Expert Review of Molecular Diagnostics|June 20, 2015
Exome sequencing and whole genome sequencing for the detection of copy number variationJayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman
Expert Review of Molecular Diagnostics|September 18, 2018
The clinical implementation of copy number detection in the age of next-generation sequencingJayne Y Hehir-Kwa, Bastiaan B J Tops, Patrick Kemmeren
NPJ Precision Oncology|March 3, 2021
Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncologyIanthe A E M van Belzen, Alexander Schönhuth, Patrick Kemmeren, et al.
DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes|March 17, 2007
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysisJayne Y Hehir-Kwa, Michael Egmont-Petersen, Irene M Janssen, et al.
Plos Genetics|June 27, 2009
Forging links between human mental retardation-associated CNVs and mouse gene knockout modelsCaleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, et al.
Journal of Medical Genetics|October 5, 2011
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Autism Research : Official Journal of the International Society for Autism Research|January 28, 2022
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversionsHelle Lybaek, Michael Robson, Nicole de Leeuw, et al.
Journal of Medical Genetics|October 5, 2014
Clinical interpretation of CNVs with cross-species phenotype dataSebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, et al.
Pageof 7