K
Kees E. P. van Roozendaal
Researcher at Maastricht University
Publications - 19
Citations - 1468
Kees E. P. van Roozendaal is an academic researcher from Maastricht University. The author has contributed to research in topics: Rett syndrome & Breast cancer. The author has an hindex of 13, co-authored 19 publications receiving 1296 citations. Previous affiliations of Kees E. P. van Roozendaal include Maastricht University Medical Centre & Radboud University Nijmegen.
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Journal ArticleDOI
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig E. Bojesen,Stig E. Bojesen,Karen A. Pooley,Sharon E. Johnatty,Jonathan Beesley,Kyriaki Michailidou,Jonathan Tyrer,Stacey L. Edwards,Hilda A. Pickett,Hilda A. Pickett,Howard C. Shen,Chanel E. Smart,Kristine M. Hillman,Phuong L. Mai,Kate Lawrenson,Michael D. Stutz,Michael D. Stutz,Yi Lu,Rod Karevan,Nicholas T. Woods,Rebecca L. Johnston,Juliet D. French,Xiaoqing Chen,Maren Weischer,Sune F. Nielsen,Melanie Maranian,Maya Ghoussaini,Shahana Ahmed,Caroline Baynes,Manjeet K. Bolla,Qin Wang,Joe Dennis,Lesley McGuffog,Daniel Barrowdale,Andrew Lee,Sue Healey,Michael Lush,Daniel C. Tessier,Daniel Vincent,Françis Bacot,Ignace Vergote,Sandrina Lambrechts,Evelyn Despierre,Harvey A. Risch,Anna González-Neira,Mary Anne Rossing,Mary Anne Rossing,Guillermo Pita,Jennifer A. Doherty,Nuria Álvarez,Melissa C. Larson,Brooke L. Fridley,Nils Schoof,Jenny Chang-Claude,Mine S. Cicek,Julian Peto,Kimberly R. Kalli,Annegien Broeks,Sebastian M. Armasu,Marjanka K. Schmidt,Linde M. Braaf,Boris Winterhoff,Heli Nevanlinna,Gottfried E. Konecny,Diether Lambrechts,L. Rogmann,Pascal Guénel,Attila Teoman,Roger L. Milne,Joaquin J. Garcia,Angela Cox,Vijayalakshmi Shridhar,Barbara Burwinkel,Frederik Marmé,Rebecca Hein,Rebecca Hein,Elinor J. Sawyer,Christopher A. Haiman,Shan Wang-Gohrke,Irene L. Andrulis,Kirsten B. Moysich,John L. Hopper,Kunle Odunsi,Annika Lindblom,Graham G. Giles,Graham G. Giles,Graham G. Giles,Hermann Brenner,Jacques Simard,Galina Lurie,Peter A. Fasching,Peter A. Fasching,Michael E. Carney,Paolo Radice,Lynne R. Wilkens,Anthony J. Swerdlow,Marc T. Goodman,Hiltrud Brauch,Hiltrud Brauch,Montserrat Garcia-Closas,Peter Hillemanns,Robert Winqvist,Matthias Dürst,Peter Devilee,Ingo B. Runnebaum,Anna Jakubowska,Jan Lubinski,Arto Mannermaa,Ralf Bützow,Natalia Bogdanova,Thilo Dörk,Liisa M. Pelttari,Wei Zheng,Arto Leminen,Hoda Anton-Culver,Clareann H. Bunker,Vessela N. Kristensen,Roberta B. Ness,Kenneth Muir,Kenneth Muir,Robert Edwards,Alfons Meindl,Florian Heitz,Keitaro Matsuo,Andreas du Bois,Anna H. Wu,Philipp Harter,Soo Hwang Teo,Ira Schwaab,Xiao-Ou Shu,William Blot,Satoyo Hosono,Daehee Kang,Toru Nakanishi,Mikael Hartman,Mikael Hartman,Yasushi Yatabe,Ute Hamann,Beth Y. Karlan,Suleeporn Sangrajrang,Susanne K. Kjaer,Valerie Gaborieau,Allan Jensen,Diana Eccles,Estrid Høgdall,Chen-Yang Shen,Chen-Yang Shen,Judith E. Brown,Yin Ling Woo,Mitul Shah,Mat Adenan Noor Azmi,Robert Luben,Siti Zawiah Omar,Kamila Czene,Robert A. Vierkant,Børge G. Nordestgaard,Henrik Flyger,Celine M. Vachon,Janet E. Olson,Xianshu Wang,Douglas A. Levine,Anja Rudolph,Rachel Palmieri Weber,Dieter Flesch-Janys,Edwin S. Iversen,Stefan Nickels,Joellen M. Schildkraut,Isabel dos Santos Silva,Daniel W. Cramer,Lorna Gibson,Kathryn L. Terry,Olivia Fletcher,Allison F. Vitonis,C. Ellen van der Schoot,Elizabeth M. Poole,Frans B. L. Hogervorst,Shelley S. Tworoger,Jianjun Liu,Elisa V. Bandera,Jingmei Li,Sara H. Olson,Keith Humphreys,Irene Orlow,Carl Blomqvist,Lorna Rodriguez-Rodriguez,Kristiina Aittomäki,Helga B. Salvesen,Taru A. Muranen,Elisabeth Wik,Barbara Brouwers,Camilla Krakstad,Els Wauters,Mari K. Halle,Hans Wildiers,Lambertus A. Kiemeney,Claire Mulot,Katja K.H. Aben,Pierre Laurent-Puig,Anne M. van Altena,Thérèse Truong,Leon F.A.G. Massuger,Javier Benitez,Tanja Pejovic,Jose Ignacio Arias Perez,Maureen E. Hoatlin,M. Pilar Zamora,Linda S. Cook,Sabapathy P. Balasubramanian,Linda E. Kelemen,Andreas Schneeweiss,Nhu D. Le,Christof Sohn,Angela Brooks-Wilson,Angela Brooks-Wilson,Ian Tomlinson,Michael J. Kerin,Nicola Miller,Cezary Cybulski,Brian E. Henderson,Janusz Menkiszak,Fredrick R. Schumacher,Nicolas Wentzensen,Loic Le Marchand,Hannah P. Yang,Anna Marie Mulligan,Gord Glendon,Svend Aage Engelholm,Julia A. Knight,Claus Høgdall,Carmel Apicella,Martin Gore,Helen Tsimiklis,Honglin Song,Melissa C. Southey,Agnes Jager,Ans M Wvan Den Ouweland,Robert S. Brown,John W.M. Martens,James M. Flanagan,Mieke Kriege,James Paul,Sara Margolin,Nadeem Siddiqui,Gianluca Severi,Gianluca Severi,Alice S. Whittemore,Laura Baglietto,Laura Baglietto,Valerie McGuire,Christa Stegmaier,Weiva Sieh,Heiko Müller,Volker Arndt,Yu Tang Gao,Mark S. Goldberg,Gong Yang,Martine Dumont,John R. McLaughlin,Arndt Hartmann,Arif B. Ekici,Matthias W. Beckmann,Catherine M. Phelan,Michael P. Lux,Jenny Permuth-Wey,Bernard Peissel,Thomas A. Sellers,Filomena Ficarazzi,Monica Barile,Argyrios Ziogas,Alan Ashworth,Aleksandra Gentry-Maharaj,Michael Jones,Susan J. Ramus,Nick Orr,Usha Menon,Celeste Leigh Pearce,Thomas Brüning,Malcolm C. Pike,Malcolm C. Pike,Yon Ko,Jolanta Lissowska,Jonine D. Figueroa,Jolanta Kupryjanczyk,Stephen J. Chanock,Agnieszka Dansonka-Mieszkowska,Arja Jukkola-Vuorinen,Iwona K. Rzepecka,Katri Pylkäs,Mariusz Bidziński,Saila Kauppila,Antoinette Hollestelle,Caroline Seynaeve,Rob A. E. M. Tollenaar,Katarzyna Durda,Katarzyna Jaworska,Katarzyna Jaworska,Jaana M. Hartikainen,Veli-Matti Kosma,Vesa Kataja,Natalia Antonenkova,Jirong Long,Martha J. Shrubsole,Sandra Deming-Halverson,Artitaya Lophatananon,Artitaya Lophatananon,Pornthep Siriwanarangsan,Sarah Stewart-Brown,Nina Ditsch,Peter Lichtner,Rita K. Schmutzler,Hidemi Ito,Hiroji Iwata,Kazuo Tajima,Chiu-Chen Tseng,Daniel O. Stram,David Van Den Berg,Cheng Har Yip,M. Kamran Ikram,Yew Ching Teh,Hui Cai,Wei Lu,Lisa B. Signorello,Qiuyin Cai,Dong Young Noh,Keun-Young Yoo,Hui Miao,Philip Iau,Yik Ying Teo,James McKay,Charles L. Shapiro,Foluso O. Ademuyiwa,George Fountzilas,Chia-Ni Hsiung,Jyh Cherng Yu,Ming-Feng Hou,Catherine S. Healey,Craig Luccarini,Susan Peock,Dominique Stoppa-Lyonnet,Paolo Peterlongo,Timothy R. Rebbeck,Marion Piedmonte,Christian F. Singer,Eitan Friedman,Mads Thomassen,Kenneth Offit,Thomas Hansen,Susan L. Neuhausen,Csilla Szabo,Ignacio Blanco,Judy Garber,Steven A. Narod,Jeffrey N. Weitzel,Marco Montagna,Edith Olah,Andrew K. Godwin,Drakoulis Yannoukakos,David E. Goldgar,Trinidad Caldés,Evgeny N. Imyanitov,Laima Tihomirova,Banu Arun,Ian G. Campbell,Arjen R. Mensenkamp,Christi J. van Asperen,Kees E. P. van Roozendaal,Hanne Meijers-Heijboer,J. Margriet Collée,Jan C. Oosterwijk,Maartje J. Hooning,Matti A. Rookus,Rob B. van der Luijt,Theo A. Mvan Os,D. Gareth Evans,Debra Frost,Elena Fineberg,Julian Barwell,Lisa Walker,M. John Kennedy,Radka Platte,Rosemarie Davidson,Steve Ellis,Trevor Cole,Brigitte Bressac-de Paillerets,Bruno Buecher,Francesca Damiola,Laurence Faivre,Marc Frenay,Olga M. Sinilnikova,Olivier Caron,Sophie Giraud,Sylvie Mazoyer,Valérie Bonadona,Virginie Caux-Moncoutier,Aleksandra Tołoczko-Grabarek,Jacek Gronwald,Tomasz Byrski,Amanda B. Spurdle,Bernardo Bonanni,Daniela Zaffaroni,Giuseppe Giannini,Loris Bernard,Riccardo Dolcetti,Siranoush Manoukian,Norbert Arnold,Christoph Engel,Helmut Deissler,Kerstin Rhiem,Dieter Niederacher,Hansjoerg Plendl,Christian Sutter,Barbara Wappenschmidt,Åke Borg,Beatrice Melin,Johanna Rantala,Maria Soller,Katherine L. Nathanson,Susan M. Domchek,Gustavo C. Rodriguez,Ritu Salani,Daphne Gschwantler Kaulich,Muy Kheng Tea,Shani Shimon Paluch,Yael Laitman,Anne-Bine Skytte,Torben A Kruse,Uffe Birk Jensen,Mark E. Robson,Anne-Marie Gerdes,Bent Ejlertsen,Lenka Foretova,Sharon A. Savage,Jenny Lester,Penny Soucy,Karoline Kuchenbaecker,Curtis Olswold,Julie M. Cunningham,Susan L. Slager,Vernon S. Pankratz,Ed Dicks,Sunil R. Lakhani,Sunil R. Lakhani,Fergus J. Couch,Per Hall,Alvaro N.A. Monteiro,Simon A. Gayther,Paul D.P. Pharoah,Roger R. Reddel,Roger R. Reddel,Ellen L. Goode,Mark H. Greene,Douglas F. Easton,Andrew Berchuck,Antonis C. Antoniou,Georgia Chenevix-Trench,Alison M. Dunning +455 more
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Journal ArticleDOI
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling
Lot Snijders Blok,Erik C. Madsen,Jane Juusola,Christian Gilissen,Diana Baralle,Margot R.F. Reijnders,Hanka Venselaar,Céline Helsmoortel,Megan T. Cho,Alexander Hoischen,Lisenka E.L.M. Vissers,Tom S. Koemans,Willemijn M. Wissink-Lindhout,Evan E. Eichler,Evan E. Eichler,Corrado Romano,Hilde Van Esch,Connie T.R.M. Stumpel,Maaike Vreeburg,E. Smeets,Karin Oberndorff,Bregje W.M. van Bon,Bregje W.M. van Bon,Marie Shaw,Jozef Gecz,Eric Haan,M Bienek,C Jensen,Bart Loeys,Anke Van Dijck,A. Micheil Innes,Hilary Racher,Sascha Vermeer,Nataliya Di Donato,Andreas Rump,Katrina Tatton-Brown,Michael Parker,Alex Henderson,Sally Ann Lynch,Alan Fryer,Alison Ross,Pradeep Vasudevan,Usha Kini,Ruth Newbury-Ecob,Kate Chandler,Alison Male,Sybe Dijkstra,Jolanda H. Schieving,Jacques C. Giltay,Koen L.I. van Gassen,Janneke H M Schuurs-Hoeijmakers,Perciliz L. Tan,Igor Pediaditakis,Stefan A. Haas,Kyle Retterer,Patrick Reed,Kristin G. Monaghan,Eden Haverfield,Marvin R. Natowicz,Angela Myers,Michael C. Kruer,Quinn Stein,Kevin A. Strauss,Karlla W. Brigatti,Katherine G. Keating,Barbara K. Burton,Katherine H. Kim,Joel Charrow,Jennifer Norman,Audrey Foster-Barber,Antonie D. Kline,Amy S. Kimball,Elaine H. Zackai,Margaret H. Harr,Joyce Fox,Julie McLaughlin,Kristin Lindstrom,Katrina Haude,Kees E. P. van Roozendaal,Han G. Brunner,Wendy K. Chung,R. Frank Kooy,Rolph Pfundt,Vera M. Kalscheuer,Sarju G. Mehta,Nicholas Katsanis,Tjitske Kleefstra +86 more
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
Journal ArticleDOI
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Mia M. Gaudet,Tomas Kirchhoff,Todd Green,Joseph Vijai,Joshua M. Korn,Candace Guiducci,Ayellet V. Segrè,Ayellet V. Segrè,Kate McGee,Lesley McGuffog,Christiana Kartsonaki,Jonathan J. Morrison,Sue Healey,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Sylvie Mazoyer,Marion Gauthier-Villars,Hagay Sobol,Michel Longy,Marc Frenay,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Kees E. P. van Roozendaal,Marion Piedmonte,Wendy S. Rubinstein,Stacy Nerenstone,Linda Van Le,Stephanie V. Blank,Trinidad Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittomäki,Conxi Lázaro,Ignacio Blanco,Adalgeir Arason,Oskar T. Johannsson,Rosa B. Barkardottir,Peter Devilee,O. I. Olopade,Susan L. Neuhausen,Xianshu Wang,Zachary S. Fredericksen,Paolo Peterlongo,Siranoush Manoukian,Monica Barile,Alessandra Viel,Paolo Radice,Catherine M. Phelan,Steven A. Narod,Gad Rennert,Flavio Lejbkowicz,Anath Flugelman,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Amanda E. Toland,Marco Montagna,Emma D'Andrea,Eitan Friedman,Yael Laitman,Åke Borg,Mary S. Beattie,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Amanda B. Spurdle,Xiaoqing Chen,Helene Holland,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas Hansen,Finn Cilius Nielsen,Mark I. Greene,Phuong L. Mai,Ana Osorio,Mercedes Durán,Raquel Andrés,Javier Benitez,Jeffrey N. Weitzel,Judy Garber,Ute Hamann,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Radka Platte,D. Gareth Evans,Fiona Lalloo,Ros Eeles,Louise Izatt,Lisa Walker,Jacqueline Eason,Julian Barwell,Andrew K. Godwin,Rita K. Schmutzler,Barbara Wappenschmidt,Stefanie Engert,Norbert Arnold,Dorothea Gadzicki,Michael Dean,Bert Gold,Robert J. Klein,Fergus J. Couch,Georgia Chenevix-Trench,Douglas F. Easton,Mark J. Daly,Antonis C. Antoniou,David Altshuler,Kenneth Offit +116 more
TL;DR: Results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCa2 wild-type breast cancer.
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Mia M. Gaudet,Tomas Kirchhoff,Todd Green,Joseph Vijai,Joshua M. Korn,Candace Guiducci,Ayellet V. Segrè,Kate McGee,Lesley McGuffog,Christiana Kartsonaki,Jonathan J. Morrison,Sue Healey,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Sylvie Mazoyer,Marion Gauthier-Villars,Hagay Sobol,Michel Longy,Marc Frenay,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Kees E. P. van Roozendaal,Marion Piedmonte,Wendy S. Rubinstein,Stacy Nerenstone,Linda Van Le,Stephanie V. Blank,Trinidad Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittomäki,Conxi Lázaro,Ignacio Blanco,Adalgeir Arason,Oskar T. Johannsson,Rosa B. Barkardottir,Peter Devilee,O. I. Olopade,Susan L. Neuhausen,Xianshu Wang,Zachary S. Fredericksen,Paolo Peterlongo,Siranoush Manoukian,Monica Barile,Alessandra Viel,Paolo Radice,Catherine M. Phelan,Steven A. Narod,Gad Rennert,Flavio Lejbkowicz,Anath Flugelman,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Amanda E. Toland,Marco Montagna,Emma D'Andrea,Eitan Friedman,Yael Laitman,Åke Borg,Mary S. Beattie,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Amanda B. Spurdle,Xiaoqing Chen,Helene Holland,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas Hansen,Finn Cilius Nielsen,Mark I. Greene,Phuong L. Mai,Ana Osorio,Mercedes Durán,Raquel Andrés,Javier Benitez,Jeffrey N. Weitzel,Judy Garber,Ute Hamann,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Radka Platte,D. Gareth Evans,Fiona Lalloo,Ros Eeles,Louise Izatt,Lisa Walker,Jacqueline Eason,Julian Barwell,Andrew K. Godwin,Rita K. Schmutzler,Barbara Wappenschmidt,Stefanie Engert,Norbert Arnold,Dorothea Gadzicki,Michael Dean,Bert Gold,Robert J. Klein,Fergus J. Couch,Georgia Chenevix-Trench,Douglas F. Easton,Mark J. Daly,Antonis C. Antoniou,David Altshuler,Kenneth Offit +115 more
Journal ArticleDOI
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
Ute Moog,Eric Smeets,Kees E. P. van Roozendaal,Sam Schoenmakers,J. Herbergs,Anneke M J Schoonbrood-Lenssen,Connie Schrander-Stumpel +6 more
TL;DR: A 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis is presented and a history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome.