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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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