Works by Hehir‐Kwa, Jayne Y.

Results: 26

Clinical Significance of De Novo and Inherited Copy-Number Variation.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1679, doi. 10.1002/humu.22442

By:

Vulto‐van Silfhout, Anneke T.;
Hehir‐Kwa, Jayne Y.;
Bon, Bregje W.M.;
Schuurs‐Hoeijmakers, Janneke H.M.;
Meader, Stephen;
Hellebrekers, Claudia J.M.;
Thoonen, Ilse J.M.;
Brouwer, Arjan P.M.;
Brunner, Han G.;
Webber, Caleb;
Pfundt, Rolph;
Leeuw, Nicole;
Vries, Bert B.A.

Publication type:

Article

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1439, doi. 10.1002/humu.22387

By:

Ligt, Joep;
Boone, Philip M.;
Pfundt, Rolph;
Vissers, Lisenka E.L.M.;
Richmond, Todd;
Geoghegan, Joel;
O'Moore, Kathleen;
Leeuw, Nicole;
Shaw, Christine;
Brunner, Han G.;
Lupski, James R.;
Veltman, Joris A.;
Hehir‐Kwa, Jayne Y.

Publication type:

Article

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1082, doi. 10.1002/humu.21015

By:

McMullan, Dominic J.;
Bonin, Michael;
Hehir-Kwa, Jayne Y.;
de Vries, Bert B.A.;
Dufke, Andreas;
Rattenberry, Eleanor;
Steehouwer, Marloes;
Moruz, Luminita;
Pfundt, Rolph;
de Leeuw, Nicole;
Riess, Angelika;
Altug-Teber, Özge;
Enders, Herbert;
Singer, Sylke;
Grasshoff, Ute;
Walter, Michael;
Walker, Judith M.;
Lamb, Catherine V.;
Davison, E. Val;
Brueton, Louise

Publication type:

Article

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 283, doi. 10.1002/humu.20883

By:

Koolen, David A.;
Pfundt, Rolph;
de Leeuw, Nicole;
Hehir-Kwa, Jayne Y.;
Nillesen, Willy M.;
Neefs, Ineke;
Scheltinga, Ine;
Sistermans, Erik;
Smeets, Dominique;
Brunner, Han G.;
van Kessel, Ad Geurts;
Veltman, Joris A.;
de Vries, Bert B.A.

Publication type:

Article

Trecode: A FAIR Eco-System for the Analysis and Archiving of Omics Data in a Combined Diagnostic and Research Setting.

Published in:

BioMedInformatics, 2023, v. 3, n. 1, p. 1, doi. 10.3390/biomedinformatics3010001

By:

Kerstens, Hindrik HD;
Hehir-Kwa, Jayne Y;
van de Geer, Ellen;
van Run, Chris;
Badloe, Shashi;
Janse, Alex;
Baker-Hernandez, John;
de Vos, Sam;
van der Leest, Douwe;
Verwiel, Eugène TP;
Tops, Bastiaan BJ;
Kemmeren, Patrick

Publication type:

Article

Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology.

Published in:

NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00155-6

By:

van Belzen, Ianthe A. E. M.;
Schönhuth, Alexander;
Kemmeren, Patrick;
Hehir-Kwa, Jayne Y.

Publication type:

Article

Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience.

Published in:

HemaSphere, 2024, v. 8, n. 7, p. 1, doi. 10.1002/hem3.122

By:

Boer, Judith M.;
Ilan, Uri;
Boeree, Aurélie;
Langenberg, Karin P. S.;
Koster, Jan;
Koudijs, Marco J.;
Hehir‐Kwa, Jayne Y.;
Nierkens, Stefan;
Rossi, Corinne;
Molenaar, Jan J.;
Goemans, Bianca F.;
den Boer, Monique L.;
Zwaan, C. Michel

Publication type:

Article

Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma.

Published in:

Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 151, doi. 10.21873/cgp.20175

By:

POUWER, ANNE-FLOOR W.;
VAN DEN EINDEN, LOES C. G.;
VAN DER LINDEN, MICHELLE;
HEHIR-KWA, JAYNE Y.;
JIANGYAN YU;
HENDRIKS, KOEN M.;
KAMPING, EVELINE J.;
EIJKELENBOOM, ASTRID;
MASSUGER, LEON F. A. G.;
BULTEN, JOHAN;
VAN TILBORG, ANGELA A. G.;
DE HULLU, JOANNE A.;
KUIPER, ROLAND P.

Publication type:

Article

Implementing Pre‐Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.

Published in:

Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 2, p. 438, doi. 10.1002/cpt.3685

By:

Bernsen, Emma C.;
Verwiel, Eugène T.P.;
van der Lee, Maaike;
Swen, Jesse J.;
Santoso, Marcel;
Brigitha, Leiah J.;
Admiraal, Rick;
Tops, Bastiaan B.J.;
Huitema, Alwin D.R.;
Kemmeren, Patrick;
Hehir‐Kwa, Jayne Y.;
Hanff, Lidwien M.;
Diekstra, Meta H.M.

Publication type:

Article

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.

Published in:

Nature Genetics, 2015, v. 47, n. 6, p. 668, doi. 10.1038/ng.3287

By:

Weren, Robbert D A;
Kets, C Marleen;
de Voer, Richarda M;
Verwiel, Eugène T P;
Spruijt, Liesbeth;
van Zelst-Stams, Wendy A G;
Jongmans, Marjolijn C;
Gilissen, Christian;
Hehir-Kwa, Jayne Y;
Hoischen, Alexander;
Kamping, Eveline J;
Geurts van Kessel, Ad;
Kuiper, Roland P;
Hoogerbrugge, Nicoline;
Ligtenberg, Marjolijn J L;
Shendure, Jay;
Boyle, Evan A;
Nagtegaal, Iris D;
Tops, Bastiaan B J;
van Krieken, J Han J M

Publication type:

Article

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312

By:

Oud, Manon S.;
Ramos, Liliana;
O'Bryan, Moira K.;
McLachlan, Robert I.;
Okutman, Özlem;
Viville, Stephane;
Vries, Petra F.;
Smeets, Dominique F.C.M.;
Lugtenberg, Dorien;
Hehir‐Kwa, Jayne Y.;
Gilissen, Christian;
de Vorst, Maartje;
Vissers, Lisenka E.L.M.;
Hoischen, Alexander;
Meijerink, Aukje M.;
Fleischer, Kathrin;
Veltman, Joris A.;
Noordam, Michiel J.

Publication type:

Article

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111

By:

Hehir-Kwa, Jayne Y;
Claustres, Mireille;
Hastings, Ros J;
van Ravenswaaij-Arts, Conny;
Christenhusz, Gabrielle;
Genuardi, Maurizio;
Melegh, Béla;
Cambon-Thomsen, Anne;
Patsalis, Philippos;
Vermeesch, Joris;
Cornel, Martina C;
Searle, Beverly;
Palotie, Aarno;
Capoluongo, Ettore;
Peterlin, Borut;
Estivill, Xavier;
Robinson, Peter N

Publication type:

Article

The clinical implementation of copy number detection in the age of next-generation sequencing.

Published in:

Expert Review of Molecular Diagnostics, 2018, v. 18, n. 10, p. 907, doi. 10.1080/14737159.2018.1523723

By:

Hehir-Kwa, Jayne Y.;
Tops, Bastiaan B. J.;
Kemmeren, Patrick

Publication type:

Article

Exome sequencing and whole genome sequencing for the detection of copy number variation.

Published in:

Expert Review of Molecular Diagnostics, 2015, v. 15, n. 8, p. 1023, doi. 10.1586/14737159.2015.1053467

By:

Hehir-Kwa, Jayne Y;
Pfundt, Rolph;
Veltman, Joris A

Publication type:

Article

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation.

Published in:

PLoS Computational Biology, 2010, v. 6, n. 4, p. 1, doi. 10.1371/journal.pcbi.1000752

By:

Hehir-Kwa, Jayne Y.;
Wieskamp, Nienke;
Webber, Caleb;
Pfundt, Rolph;
Brunner, Han G.;
Gilissen, Christian;
de Vries, Bert B. A.;
Ponting, Chris P.;
Veltman, Joris A.

Publication type:

Article

Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors.

Published in:

Cancers, 2022, v. 14, n. 19, p. 4872, doi. 10.3390/cancers14194872

By:

van Belzen, Ianthe A. E. M.;
van Tuil, Marc;
Badloe, Shashi;
Strengman, Eric;
Janse, Alex;
Verwiel, Eugène T. P.;
van der Leest, Douwe F. M.;
de Vos, Sam;
Baker-Hernandez, John;
Groenendijk, Alissa;
de Krijger, Ronald;
Kerstens, Hindrik H. D.;
Drost, Jarno;
van den Heuvel-Eibrink, Marry M.;
Tops, Bastiaan B. J.;
Holstege, Frank C. P.;
Kemmeren, Patrick;
Hehir-Kwa, Jayne Y.

Publication type:

Article

Mobster: accurate detection of mobile element insertions in next generation sequencing data.

Published in:

Genome Biology, 2014, v. 15, n. 10, p. 2, doi. 10.1186/s13059-014-0488-x

By:

Djie Tjwan Thung;
Ligt, Joep de;
Vissers, Lisenka E. M.;
Steehouwer, Marloes;
Kroon, Mark;
de Vries, Petra;
Slagboom, Eline P.;
Kai Ye;
Veltman, Joris A.;
Hehir-Kwa, Jayne Y.

Publication type:

Article

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 160, doi. 10.1038/ejhg.2013.125

By:

Claustres, Mireille;
Kožich, Viktor;
Dequeker, Els;
Fowler, Brain;
Hehir-Kwa, Jayne Y;
Miller, Konstantin;
Oosterwijk, Cor;
Peterlin, Borut;
van Ravenswaaij-Arts, Conny;
Zimmermann, Uwe;
Zuffardi, Orsetta;
Hastings, Ros J;
Barton, David E

Publication type:

Article

Homozygosity mapping in outbred families with mental retardation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167

By:

Schuurs-Hoeijmakers, Janneke H. M.;
Hehir-Kwa, Jayne Y.;
Pfundt, Rolph;
van Bon, Bregje W. M.;
de Leeuw, Nicole;
Kleefstra, Tjitske;
Willemsen, Michèl A.;
van Kessel, Ad Geurts;
Brunner, Han G.;
Veltman, Joris A.;
van Bokhoven, Hans;
de Brouwer, Arjan P. M.;
de Vries, Bert B. A.

Publication type:

Article

Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.

Published in:

BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-11054-3

By:

van Belzen, Ianthe A. E. M.;
Cai, Casey;
van Tuil, Marc;
Badloe, Shashi;
Strengman, Eric;
Janse, Alex;
Verwiel, Eugène T. P.;
van der Leest, Douwe F. M.;
Kester, Lennart;
Molenaar, Jan J.;
Meijerink, Jules;
Drost, Jarno;
Peng, Weng Chuan;
Kerstens, Hindrik H. D.;
Tops, Bastiaan B. J.;
Holstege, Frank C. P.;
Kemmeren, Patrick;
Hehir-Kwa, Jayne Y.

Publication type:

Article

Genome sequencing identifies major causes of severe intellectual disability.

Published in:

Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394

By:

Gilissen, Christian;
Hehir-Kwa, Jayne Y.;
Thung, Djie Tjwan;
van de Vorst, Maartje;
van Bon, Bregje W. M.;
Willemsen, Marjolein H.;
Kwint, Michael;
Janssen, Irene M.;
Hoischen, Alexander;
Schenck, Annette;
Leach, Richard;
Klein, Robert;
Tearle, Rick;
Bo, Tan;
Pfundt, Rolph;
Yntema, Helger G.;
de Vries, Bert B. A.;
Kleefstra, Tjitske;
Brunner, Han G.;
Vissers, Lisenka E. L. M.

Publication type:

Article

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.

Published in:

Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 3, p. 421, doi. 10.1002/aur.2677

By:

Lybæk, Helle;
Robson, Michael;
de Leeuw, Nicole;
Hehir‐Kwa, Jayne Y.;
Jeffries, Aaron;
Haukanes, Bjørn Ivar;
Berland, Siren;
de Bruijn, Diederik;
Mundlos, Stefan;
Spielmann, Malte;
Houge, Gunnar

Publication type:

Article

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis.

Published in:

DNA Research, 2007, v. 14, n. 1, p. 1, doi. 10.1093/dnares/dsm002

By:

Hehir-Kwa, Jayne Y.;
Egmont-Petersen, Michael;
Janssen, Irene M.;
Smeets, Dominique;
van Kessel, Ad Geurts;
Veltman, Joris A.

Publication type:

Article

Forging Links between Human Mental Retardation-Associated CNVs and Mouse Gene Knockout Models.

Published in:

PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000531

By:

Webber, Caleb;
Hehir-Kwa, Jayne Y.;
Duc-Quang Nguyen;
de Vries, Bert B. A.;
Veltman, Joris A.;
Ponting, Chris P.

Publication type:

Article

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

Published in:

Nature Communications, 2016, v. 7, n. 10, p. 12989, doi. 10.1038/ncomms12989

By:

Hehir-Kwa, Jayne Y.;
Marschall, Tobias;
Kloosterman, Wigard P.;
Francioli, Laurent C.;
Baaijens, Jasmijn A.;
Dijkstra, Louis J.;
Abdellaoui, Abdel;
Koval, Vyacheslav;
Thung, Djie Tjwan;
Wardenaar, René;
Renkens, Ivo;
Coe, Bradley P.;
Deelen, Patrick;
de Ligt, Joep;
Lameijer, Eric-Wubbo;
van Dijk, Freerk;
Hormozdiari, Fereydoun;
Uitterlinden, André G.;
van Duijn, Cornelia M.;
Eichler, Evan E.

Publication type:

Article

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.

Published in:

Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755

By:

Sabatella, Mariangela;
Mantere, Tuomo;
Waanders, Esmé;
Neveling, Kornelia;
Mensenkamp, Arjen R;
van Dijk, Freerk;
Hehir‐Kwa, Jayne Y;
Derks, Ronnie;
Kwint, Michael;
O'Gorman, Luke;
Tropa Martins, Madalena;
Gidding, Corrie EM;
Lequin, Maarten H;
Küsters, Benno;
Wesseling, Pieter;
Nelen, Marcel;
Biegel, Jacklyn A;
Hoischen, Alexander;
Jongmans, Marjolijn C;
Kuiper, Roland P

Publication type:

Article