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18 results for Steehouwer,+Marloes

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ArticlesPeer ReviewedFull Text
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Author / Creator:Steyaert, Wouter ; Haer-Wigman, Lonneke ; Pfundt, Rolph ; Hellebrekers, Debby ; Steehouwer, Marloes ; Hampstead, Juliet ; de Boer, Elke ; Stegmann, Alexander ; Yntema, Helger ; Kamsteeg, Erik-Jan ; Brunner, Han ; Hoischen, Alexander ; Gilissen, Christian
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-10, Vol.14 (1), p.6845-13, Article 6845
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Author / Creator:Hoischen, Alexander ; van Bon, Bregje W M ; Gilissen, Christian ; Arts, Peer ; van Lier, Bart ; Steehouwer, Marloes ; de Vries, Petra ; de Reuver, Rick ; Wieskamp, Nienke ; Mortier, Geert ; Devriendt, Koen ; Amorim, Marta Z ; Revencu, Nicole ; Kidd, Alexa ; Barbosa, Mafalda ; Turner, Anne ; Smith, Janine ; Oley, Christina ; Henderson, Alex ; Hayes, Ian M ; Thompson, Elizabeth M ; Brunner, Han G ; de Vries, Bert B A ; Veltman, Joris A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-06, Vol.42 (6), p.483-485
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ArticlesPeer ReviewedFull Text
Mobster: accurate detection of mobile element insertions in next generation sequencing data
Author / Creator:Thung, Djie Tjwan ; de Ligt, Joep ; Vissers, Lisenka EM ; Steehouwer, Marloes ; Kroon, Mark ; de Vries, Petra ; Slagboom, Eline P ; Ye, Kai ; Veltman, Joris A ; Hehir-Kwa, Jayne Y
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology (Online Edition), 2014-01, Vol.15 (10), p.488-488, Article 488
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ArticlesPeer ReviewedFull Text
Quantification of differential gene expression by multiplexed targeted resequencing of cDNA
Author / Creator:Arts, Peer ; van der Raadt, Jori ; van Gestel, Sebastianus H.C. ; Steehouwer, Marloes ; Shendure, Jay ; Hoischen, Alexander ; Albers, Cornelis A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-05, Vol.8 (1), p.15190-10, Article 15190
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting
Author / Creator:Khandelwal, Kriti D ; van den Boogaard Marie-José H ; Mehrem, Sarah L ; Gebel Jakob ; Fagerberg, Christina ; van Beusekom Ellen ; van Binsbergen Ellen ; Topaloglu Ozan ; Steehouwer Marloes ; Gilissen, Christian ; Ishorst Nina ; van Rooij Iris A L M ; Nel, Roeleveld ; Christensen, Kaare ; Schoenaers, Joseph ; Bergé Stefaan ; Murray, Jeffrey C ; Hens Greet ; Devriendt Koen ; Ludwig, Kerstin U ; Mangold, Elisabeth ; Hoischen Alexander ; Zhou Huiqing ; Dötsch Volker ; Carels Carine E L ; Hans, van Bokhoven
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1101-1112
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ArticlesPeer ReviewedFull Text
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
Author / Creator:van Deuren, Rosanne C. ; Arts, Peer ; Cavalli, Giulio ; Jaeger, Martin ; Steehouwer, Marloes ; van de Vorst, Maartje ; Gilissen, Christian ; Joosten, Leo A. B. ; Dinarello, Charles A. ; Mhlanga, Musa M. ; Kumar, Vinod ; Netea, Mihai G. ; van de Veerdonk, Frank L. ; Hoischen, Alexander
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2021-05, Vol.13 (1), p.94-17, Article 94
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A de novo paradigm for mental retardation
Author / Creator:Vissers, Lisenka E L M ; de Ligt, Joep ; Gilissen, Christian ; Janssen, Irene ; Steehouwer, Marloes ; de Vries, Petra ; van Lier, Bart ; Arts, Peer ; Wieskamp, Nienke ; del Rosario, Marisol ; van Bon, Bregje W M ; Hoischen, Alexander ; de Vries, Bert B A ; Brunner, Han G ; Veltman, Joris A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-12, Vol.42 (12), p.1109-1112
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Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout
Author / Creator:Klück, Viola ; van Deuren, Rosanne C ; Cavalli, Giulio ; Shaukat, Amara ; Arts, Peer ; Cleophas, Maartje C ; Crișan, Tania O ; Tausche, Anne-Kathrin ; Riches, Philip ; Dalbeth, Nicola ; Stamp, Lisa K ; Hindmarsh, Jennie Harré ; Jansen, Tim L Th A ; Janssen, Matthijs ; Steehouwer, Marloes ; Lelieveld, Stefan ; van de Vorst, Maartje ; Gilissen, Christian ; Dagna, Lorenzo ; Van de Veerdonk, Frank L ; Eisenmesser, Elan Z ; Kim, SooHyun ; Merriman, Tony R ; Hoischen, Alexander ; Netea, Mihai G ; Dinarello, Charles A ; Joosten, Leo AB
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2020-04, Vol.79 (4), p.536-544
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ArticlesPeer ReviewedFull Text
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
Author / Creator:Tylki-Szymańska, Anna ; Acuna-Hidalgo, Rocio ; Krajewska-Walasek, Małgorzata ; Lecka-Ambroziak, Agnieszka ; Steehouwer, Marloes ; Gilissen, Christian ; Brunner, Han G ; Jurecka, Agnieszka ; Różdżyńska-Świątkowska, Agnieszka ; Hoischen, Alexander ; Chrzanowska, Krystyna H
Publisher:England
Journal title:Journal of medical genetics, 2015-05, Vol.52 (5), p.312-316
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ArticlesPeer ReviewedFull Text
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)
Author / Creator:Tylki-SzymaÅ,,ska, Anna ; Acuna-Hidalgo, Rocio ; Krajewska-Walasek, MaÅ,gorzata ; Lecka-Ambroziak, Agnieszka ; Steehouwer, Marloes ; Gilissen, Christian ; Brunner, Han G ; Jurecka, Agnieszka ; RóÅ¼dÅ¼yÅ,,ska-ÅswiÄtkowska, Agnieszka ; Hoischen, Alexander ; Chrzanowska, Krystyna H
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-05, Vol.52 (5), p.312
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ArticlesPeer ReviewedFull Text
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
Author / Creator:Nicolas, Gaël ; Acuna-Hidalgo, Rocio ; Keogh, Michael ; Quenez, Olivier ; Steehouwer, Marloes ; Lelieveld, Stefan H. ; Rousseau, Stéphane ; Richard, Anne-Claire ; Oud, Manon ; Marguet, Florent ; Laquerrière, Annie ; Morris, Chris ; Attems, Johannes ; Smith, Colin ; Ansorge, Olaf ; Al Sarraj, Safa ; Frebourg, Thierry ; Campion, Dominique ; Hannequin, Didier ; Wallon, David ; Gilissen, Christian ; Chinnery, Patrick ; Veltman, Joris A ; Hoischen, Alexander
Publisher:Wiley
Journal title:Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2018-12, Vol.14 (12), p.1632-1639
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ArticlesPeer ReviewedFull Text
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Author / Creator:Ockeloen, Charlotte W. ; Khandelwal, Kriti D. ; Dreesen, Karoline ; Ludwig, Kerstin U. ; Sullivan, Robert ; van Rooij, Iris A.L.M. ; Thonissen, Michelle ; Swinnen, Steven ; Phan, Milien ; Conte, Federica ; Ishorst, Nina ; Gilissen, Christian ; Roa Fuentes, Laury ; van de Vorst, Maartje ; Henkes, Arjen ; Steehouwer, Marloes ; van Beusekom, Ellen ; Bloemen, Marjon ; Vankeirsbilck, Bruno ; Bergé, Stefaan ; Hens, Greet ; Schoenaers, Joseph ; Vander Poorten, Vincent ; Roosenboom, Jasmien ; Verdonck, An ; Devriendt, Koen ; Roeleveldt, Nel ; Jhangiani, Shalini N. ; Vissers, Lisenka E.L.M. ; Lupski, James R. ; de Ligt, Joep ; Von den Hoff, Johannes W. ; Pfundt, Rolph ; Brunner, Han G. ; Zhou, Huiqing ; Dixon, Jill ; Mangold, Elisabeth ; van Bokhoven, Hans ; Dixon, Michael J. ; Kleefstra, Tjitske ; Hoischen, Alexander ; Carels, Carine E.L.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-11, Vol.18 (11), p.1158-1162
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ArticlesPeer ReviewedFull Text
BRCA Testing by Single-Molecule Molecular Inversion Probes
Author / Creator:Neveling, Kornelia ; Mensenkamp, Arjen R ; Derks, Ronny ; Kwint, Michael ; Ouchene, Hicham ; Steehouwer, Marloes ; van Lier, Bart ; Bosgoed, Ermanno ; Rikken, Alwin ; Tychon, Marloes ; Zafeiropoulou, Dimitra ; Castelein, Steven ; Hehir-Kwa, Jayne ; Tjwan Thung, Djie ; Hofste, Tom ; Lelieveld, Stefan H ; Bertens, Stijn M M ; Adan, Ivo B J F ; Eijkelenboom, Astrid ; Tops, Bastiaan B ; Yntema, Helger ; Stokowy, Tomasz ; Knappskog, Per M ; Høberg-Vetti, Hildegunn ; Steen, Vidar M ; Boyle, Evan ; Martin, Beth ; Ligtenberg, Marjolijn J L ; Shendure, Jay ; Nelen, Marcel R ; Hoischen, Alexander
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2017-02, Vol.63 (2), p.503-512
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ArticlesPeer ReviewedFull Text
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
Author / Creator:Wills, Edgar S ; Cnossen, Wybrich R ; Veltman, Joris A ; Woestenenk, Rob ; Steehouwer, Marloes ; Salomon, Jody ; te Morsche, René H M ; Huch, Meritxell ; Hehir-Kwa, Jayne Y ; Banning, Martijn J ; Pfundt, Rolph ; Roepman, Ronald ; Hoischen, Alexander ; Drenth, Joost P H
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1707-1714
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Author / Creator:Voigt, Claudia ; Mégarbané, André ; Neveling, Kornelia ; Czeschik, Johanna Christina ; Albrecht, Beate ; Callewaert, Bert ; von Deimling, Florian ; Hehr, Andreas ; Falkenberg Smeland, Marie ; König, Rainer ; Kuechler, Alma ; Marcelis, Carlo ; Puiu, Maria ; Reardon, Willie ; Riise Stensland, Hilde Monica Frostad ; Schweiger, Bernd ; Steehouwer, Marloes ; Teller, Christopher ; Martin, Marcel ; Rahmann, Sven ; Hehr, Ute ; Brunner, Han G ; Lüdecke, Hermann-Josef ; Wieczorek, Dagmar
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.110-110, Article 110
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ArticlesFull Text
Clone expansion of mutation-driven clonal hematopoiesis is associated with aging and metabolic dysfunction in individuals with obesity
Author / Creator:Van Deuren, Rosanne C ; Andersson-Assarsson, Johanna C ; Kristensson, Felipe M ; Steehouwer, Marloes ; Sjöholm, Kajsa ; Svensson, Per-Arne ; Peterse, Marc ; Gilissen, Christian ; Taube, Magdalena ; Jacobson, Peter ; Perkins, Rosie ; Brunner, Han G ; Netea, Mihai G ; Peltonen, Markku ; Carlsson, Björn ; Hoischen, Alexander ; Lena Ms Carlsson
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-05
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Text ResourcesFull Text
Expansion of mutation-driven haematopoietic clones is associated with insulin resistance and low HDL-cholesterol in individuals with obesity
Author / Creator:van Deuren, Rosanne C. ; Andersson-Assarsson, Johanna C. ; Kristensson, Felipe M. ; Steehouwer, Marloes ; Sjöholm, Kajsa ; Svensson, Per-Arne ; Pieterse, Marc ; Gilissen, Christian ; Taube, Magdalena ; Jacobson, Peter ; Perkins, Rosie ; Brunner, Han G. ; Netea, Mihai G. ; Peltonen, Markku ; Carlsson, Björn ; Hoischen, Alexander ; Carlsson, Lena M.S.
Publisher:Cold Spring Harbor Laboratory
Journal title:bioRxiv, 2021
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ArticlesFull Text
The impact of rare and common genetic variation in the Interleukin-1 pathway for human cytokine responses
Author / Creator:Van Deuren, Rosanne C ; Arts, Peer ; Cavalli, Giulio ; Jaeger, Martin ; Steehouwer, Marloes ; Van De Vorst, Maartje ; Gilissen, Christian ; Leo Ab Joosten ; Dinarello, Charles A ; Mhlanga, Musa M ; Kumar, Vinod ; Netea, Mihai G ; Frank L Van De Veerdonk ; Hoischen, Alexander
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-02
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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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

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Quantification of differential gene expression by multiplexed targeted resequencing of cDNA

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Deletions and loss-of-function variants in TP63 associated with orofacial clefting

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Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

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A de novo paradigm for mental retardation

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Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

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BRCA Testing by Single-Molecule Molecular Inversion Probes

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Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

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Clone expansion of mutation-driven clonal hematopoiesis is associated with aging and metabolic dysfunction in individuals with obesity

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Expansion of mutation-driven haematopoietic clones is associated with insulin resistance and low HDL-cholesterol in individuals with obesity

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The impact of rare and common genetic variation in the Interleukin-1 pathway for human cytokine responses

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