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Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
Published in:
2012
By:
- Hunt, Karen A;
- Smyth, Deborah J;
- Balschun, Tobias;
- Ban, Maria;
- Mistry, Vanisha;
- Ahmad, Tariq;
- Anand, Vidya;
- Barrett, Jeffrey C;
- Bhaw-Rosun, Leena;
- Bockett, Nicholas A;
- Brand, Oliver J;
- Brouwer, Elisabeth;
- Concannon, Patrick;
- Cooper, Jason D;
- Dias, Kerith-Rae M;
- van Diemen, Cleo C;
- Dubois, Patrick C;
- Edkins, Sarah;
- Fölster-Holst, Regina;
- Fransen, Karin
Publication type:
Letter
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
Published in:
Nature Genetics, 2011, v. 43, n. 12, p. 1193, doi. 10.1038/ng.998
By:
- Trynka, Gosia;
- Hunt, Karen A;
- Bockett, Nicholas A;
- Romanos, Jihane;
- Mistry, Vanisha;
- Szperl, Agata;
- Bakker, Sjoerd F;
- Bardella, Maria Teresa;
- Bhaw-Rosun, Leena;
- Castillejo, Gemma;
- de la Concha, Emilio G;
- de Almeida, Rodrigo Coutinho;
- Dias, Kerith-Rae M;
- van Diemen, Cleo C;
- Dubois, Patrick C A;
- Duerr, Richard H;
- Edkins, Sarah;
- Franke, Lude;
- Fransen, Karin;
- Gutierrez, Javier
Publication type:
Article
<i>ADAM33</i> Gene Polymorphisms and Mortality. A Prospective Cohort Study.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067768
By:
- Figarska, Sylwia M.;
- Vonk, Judith M.;
- van Diemen, Cleo C.;
- Postma, Dirkje S.;
- Boezen, H. Marike
Publication type:
Article
Limited Evidence for Parent-of-Origin Effects in Inflammatory Bowel Disease Associated Loci.
Published in:
PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045287
By:
- Fransen, Karin;
- Mitrovic, Mitja;
- Van Diemen, Cleo C.;
- K., Thelma B.;
- Sood, Ajit;
- Franke, Andre;
- Schreiber, Stefan;
- Midha, Vandana;
- Juyal, Garima;
- Potocnik, Uros;
- Fu, Jingyuan;
- Nolte, Ilja;
- Weersma, Rinse K.;
- Zhaoxia Yu
Publication type:
Article
Common Variants in the Type 2 Diabetes KCNQ1 Gene Are Associated with Impairments in Insulin Secretion During Hyperglycaemic Glucose Clamp.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032148
By:
- Van Vliet-Ostaptchouk, Jana V.;
- Van Haeften, Timon W.;
- Landman, Gijs W. D.;
- Reiling, Erwin;
- Kleefstra, Nanne;
- Bilo, Henk J. G.;
- Klungel, Olaf H.;
- Boer, Anthonius de;
- Van Diemen, Cleo C.;
- Wijmenga, Cisca;
- Marike Boezen, H.;
- Dekker, Jacqueline M.;
- Riet, Esther van't;
- Nijpels, Giel;
- Welschen, Laura M. C.;
- Zavrelova, Hata;
- Bruin, Elinda J.;
- Elbers, Clara C.;
- Bauer, Florianne;
- Charlotte Onland-Moret, N.
Publication type:
Article
Novel Rare Genetic Variants Associated with Airflow Obstruction in the General Population.
Published in:
2020
By:
- de Vries, Maaike;
- van der Plaat, Diana A.;
- Nedeljkovic, Ivana;
- van der Velde, K. Joeri;
- Amin, Najaf;
- van Duijn, Cornelia M.;
- Vonk, Judith M.;
- Boezen, H. Marike;
- van Diemen, Cleo C.
Publication type:
Letter
The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction.
Published in:
2016
By:
- van der Plaat, Diana A.;
- Jong, Kim de;
- Lahousse, Lies;
- Faiz, Alen;
- Vonk, Judith M.;
- van Diemen, Cleo C.;
- Nedeljkovic, Ivana;
- Amin, Najaf;
- Obeidat, Ma’en;
- van Duijn, Cornelia M.;
- Boezen, H. Marike;
- Postma, Dirkje S.;
- de Jong, Kim;
- Obeidat, Ma'en
Publication type:
journal article
Decorin and TGF-β<sub>1</sub> polymorphisms and development of COPD in a general population.
Published in:
Respiratory Research, 2006, v. 7, p. 1, doi. 10.1186/1465-9921-7-89
By:
- van Diemen, Cleo C.;
- Postma, Dirkje S.;
- Vonk, Judith M.;
- Bruinenberg, Marcel;
- Nolte, Ilja M.;
- Boezen, H. Marike
Publication type:
Article
A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease.
Published in:
2020
By:
- Prokić, Ivana;
- Lahousse, Lies;
- de Vries, Maaike;
- Liu, Jun;
- Kalaoja, Marita;
- Vonk, Judith M.;
- van der Plaat, Diana A.;
- van Diemen, Cleo C.;
- van der Spek, Ashley;
- Zhernakova, Alexandra;
- Fu, Jingyuan;
- Ghanbari, Mohsen;
- Ala-Korpela, Mika;
- Kettunen, Johannes;
- Havulinna, Aki S.;
- Perola, Markus;
- Salomaa, Veikko;
- Lind, Lars;
- Ärnlöv, Johan;
- Stricker, Bruno H. C.
Publication type:
journal article
The emerging landscape of dynamic DNA methylation in early childhood.
Published in:
BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-016-3452-1
By:
- Cheng-Jian Xu;
- Bonder, Marc Jan;
- Söderhäll, Cilla;
- Bustamante, Mariona;
- Baïz, Nour;
- Gehring, Ulrike;
- Jankipersadsing, Soesma A.;
- van der Vlies, Pieter;
- van Diemen, Cleo C.;
- van Rijkom, Bianca;
- Just, Jocelyne;
- Kull, Inger;
- Kere, Juha;
- Antó, Josep Maria;
- Bousquet, Jean;
- Zhernakova, Alexandra;
- Wijmenga, Cisca;
- Annesi-Maesano, Isabella;
- Sunyer, Jordi;
- Melén, Erik
Publication type:
Article
Detecting shared pathogenesis from the shared genetics of immune-related diseases.
Published in:
2009
By:
- Zhernakova, Alexandra;
- van Diemen, Cleo C.;
- Wijmenga, Cisca
Publication type:
journal article
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
By:
- Deelen, Patrick;
- van Dam, Sipko;
- Herkert, Johanna C.;
- Karjalainen, Juha M.;
- Brugge, Harm;
- Abbott, Kristin M.;
- van Diemen, Cleo C.;
- van der Zwaag, Paul A.;
- Gerkes, Erica H.;
- Zonneveld-Huijssoon, Evelien;
- Boer-Bergsma, Jelkje J.;
- Folkertsma, Pytrik;
- Gillett, Tessa;
- van der Velde, K. Joeri;
- Kanninga, Roan;
- van den Akker, Peter C.;
- Jan, Sabrina Z.;
- Hoorntje, Edgar T.;
- te Rijdt, Wouter P.;
- Vos, Yvonne J.
Publication type:
Article
Long-term Air Pollution Exposure, Genome-wide DNA Methylation and Lung Function in the LifeLines Cohort Study.
Published in:
Environmental Health Perspectives, 2018, v. 126, n. 2, p. 1, doi. 10.1289/EHP2045
By:
- de F. C. Lichtenfels, Ana Julia;
- van der Plaat, Diana A.;
- Kim de Jong;
- van Diemen, Cleo C.;
- Postma, Dirkje S.;
- Nedeljkovic, Ivana;
- van Duijn, Cornelia M.;
- Amin, Najaf;
- la Bastide-van Gemert, Sacha;
- de Vries, Maaike;
- Ward-Caviness, Cavin K.;
- Wolf, Kathrin;
- Waldenberger, Melanie;
- Peters, Annette;
- Stolk, Ronald P.;
- Brunekreef, Bert;
- Boezen, H. Marike;
- Vonk, Judith M.
Publication type:
Article
From blood to lung tissue: effect of cigarette smoke on DNA methylation and lung function.
Published in:
2018
By:
- de Vries, Maaike;
- van der Plaat, Diana A;
- Nedeljkovic, Ivana;
- Verkaik-Schakel, Rikst Nynke;
- Kooistra, Wierd;
- Amin, Najaf;
- van Duijn, Cornelia M;
- Brandsma, Corry-Anke;
- van Diemen, Cleo C;
- Vonk, Judith M;
- Marike Boezen, H
Publication type:
journal article
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.
Published in:
Clinical Chemistry, 2020, v. 66, n. 12, p. 1521, doi. 10.1093/clinchem/hvaa221
By:
- de Lange, Kim;
- de Boer, Eddy N.;
- Bosga, Anneke;
- Alimohamed, Mohamed Z.;
- Johansson, Lennart F.;
- Mulder, André B.;
- Vellenga, Edo;
- van Diemen, Cleo C.;
- Deelen, Patrick;
- van den Berg, Eva;
- Sikkema-Raddatz, Birgit
Publication type:
Article
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.
Published in:
Clinical Chemistry, 2020, v. 66, n. 8, p. 1084, doi. 10.1093/clinchem/hvaa119
By:
- de Boer, Eddy N.;
- Johansson, Lennart F.;
- Lange, Kim de;
- Bosga-Brouwer, Anneke G.;
- den Berg, Eva van;
- Sikkema-Raddatz, Birgit;
- van Diemen, Cleo C.
Publication type:
Article
A Disintegrin and Metalloprotease 33 Polymorphisms and Lung Function Decline in the General Population.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2005, v. 172, n. 3, p. 329, doi. 10.1164/rccm.200411-1486OC
By:
- van Diemen, Cleo C.;
- Postma, Dirkje S.;
- Vonk, Judith M.;
- Bruinenberg, Marcel;
- Schouten, Jan P.;
- Marike Boezen, H.
Publication type:
Article
A Desintegrin and Metalloprotease 33 polymorphisms and lung function decline in the population.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2005, v. 172, n. 3, p. 1, doi. 10.1164/rccm.200411-1486oc
By:
- van Diemen, Cleo C.;
- Postma, Dirkje S.;
- Vonk, Judith M.;
- Bruinenberg, Marcel;
- Schouten, Jan P.;
- Marike Boezen, H.
Publication type:
Article
Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population.
Published in:
2019
By:
- van der Plaat, Diana A.;
- Vonk, Judith M.;
- Lahousse, Lies;
- de Jong, Kim;
- Faiz, Alen;
- Nedeljkovic, Ivana;
- Amin, Najaf;
- van Diemen, Cleo C.;
- Brusselle, Guy G.;
- Bossé, Yohan;
- Brandsma, Corry-Anke;
- Hao, Ke;
- Paré, Peter D.;
- van Duijn, Cornelia M.;
- Postma, Dirkje S.;
- Boezen, H. Marike
Publication type:
journal article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Published in:
Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
By:
- Ghorbani, Fatemeh;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Pennings, Maartje;
- de Boer, Eddy N.;
- Kremer, Berry;
- Vanhoutte, Els K.;
- de Vries, Jeroen J.;
- van de Berg, Raymond;
- Kamsteeg, Erik-Jan;
- van Diemen, Cleo C.;
- Westers, Helga;
- van de Warrenburg, Bart P.;
- Verbeek, Dineke S.
Publication type:
Article
A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants.
Published in:
Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00133
By:
- Nedeljkovic, Ivana;
- Terzikhan, Natalie;
- Vonk, Judith M.;
- van der Plaat, Diana A.;
- Lahousse, Lies;
- van Diemen, Cleo C.;
- Hobbs, Brian D.;
- Qiao, Dandi;
- Cho, Michael H.;
- Brusselle, Guy G.;
- Postma, Dirkje S.;
- Boezen, H. M.;
- van Duijn, Cornelia M.;
- Amin, Najaf
Publication type:
Article
Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 15, p. 2477, doi. 10.1093/hmg/ddz067
By:
- Plaat, Diana A van der;
- Vonk, Judith M;
- Terzikhan, Natalie;
- Jong, Kim de;
- Vries, Maaike de;
- Gemert, Sacha La Bastide-van;
- Diemen, Cleo C van;
- Lahousse, Lies;
- Brusselle, Guy G;
- Nedeljkovic, Ivana;
- Amin, Najaf;
- Consortium, BIOS;
- Kromhout, Hans;
- Vermeulen, Roel C H;
- Postma, Dirkje S;
- Duijn, Cornelia M van;
- Boezen, H Marike
Publication type:
Article
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 2, p. 396, doi. 10.1093/hmg/ddx390
By:
- Nedeljkovic, Ivana;
- Lahousse, Lies;
- Carnero-Montoro, Elena;
- Faiz, Alen;
- Vonk, Judith M.;
- Jong, Kim de;
- van der Plaat, Diana A.;
- van Diemen, Cleo C.;
- Berge, Maarten van den;
- Obeidat, Ma'en;
- Bossé, Yohan;
- Nickle, David C.;
- Consortium, BIOS;
- Uitterlinden, Andre G.;
- van Meurs, Joyce B.J.;
- Stricker, Bruno H.C.;
- Brusselle, Guy G.;
- Postma, Dirkje S.;
- Boezen, H. Marike;
- van Duijn, Cornelia M.
Publication type:
Article
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.782685
By:
- Ghorbani, Fatemeh;
- Alimohamed, Mohamed Z.;
- Vilacha, Juliana F.;
- Van Dijk, Krista K.;
- De Boer-Bergsma, Jelkje;
- Fokkens, Michiel R.;
- Lemmink, Henny;
- Sijmons, Rolf H.;
- Sikkema-Raddatz, Birgit;
- Groves, Matthew R.;
- Verschuuren-Bemelmans, Corien C.;
- Verbeek, Dineke S.;
- Van Diemen, Cleo C.;
- Westers, Helga
Publication type:
Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
By:
- van der Velde, K. Joeri;
- de Boer, Eddy N.;
- van Diemen, Cleo C.;
- Sikkema-Raddatz, Birgit;
- Knopperts, Alain;
- Franke, Lude;
- Sijmons, Rolf H.;
- de Koning, Tom J.;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 17, p. 3482, doi. 10.1093/hmg/ddq264
By:
- Fransen, Karin;
- Visschedijk, Marijn C.;
- van Sommeren, Suzanne;
- Fu, Jinyuan Y.;
- Franke, Lude;
- Festen, Eleonora A.M.;
- Stokkers, Pieter C.F.;
- van Bodegraven, Adriaan A.;
- Crusius, J. Bart A.;
- Hommes, Daniel W.;
- Zanen, Pieter;
- de Jong, Dirk J.;
- Wijmenga, Cisca;
- van Diemen, Cleo C.;
- Weersma, Rinse K.
Publication type:
Article
Common and different genetic background for rheumatoid arthritis and coeliac disease.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 21, p. 4195, doi. 10.1093/hmg/ddp365
By:
- Coenen, Marieke J.H.;
- Trynka, Gosia;
- Heskamp, Sandra;
- Franke, Barbara;
- van Diemen, Cleo C.;
- Smolonska, Joanna;
- van Leeuwen, Miek;
- Brouwer, Elisabeth;
- Boezen, Marike H.;
- Postma, Dirkje S.;
- Platteel, Mathieu;
- Zanen, Pieter;
- Lammers, Jan-Willem W.J.;
- Groen, Harry J.M.;
- Mali, Willem P.T.M.;
- Mulder, Chris J.;
- Tack, Greetje J.;
- Verbeek, Wieke H.M.;
- Wolters, Victorien M.;
- Houwen, Roderick H.J.
Publication type:
Article
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11205, doi. 10.3390/ijms252011205
By:
- Ghorbani, Fatemeh;
- de Boer, Eddy N.;
- Fokkens, Michiel R.;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Wierenga, Elles;
- Kasaei, Hamidreza;
- Noordermeer, Daan;
- Verbeek, Dineke S.;
- Westers, Helga;
- van Diemen, Cleo C.
Publication type:
Article
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59092-6
By:
- de Boer, Eddy N.;
- Vroom, Vincent;
- Scheper, Arjen J.;
- Johansson, Lennart F.;
- Bosscher, Laura;
- Rietema, Nettie;
- Commandeur-Jan, Sabrina Z.;
- Knoers, Nine V. A. M.;
- Sikkema-Raddatz, Birgit;
- van den Berg, Eva;
- van Diemen, Cleo C.
Publication type:
Article
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00775-w
By:
- Li, Shuang;
- van der Velde, K. Joeri;
- de Ridder, Dick;
- van Dijk, Aalt D. J.;
- Soudis, Dimitrios;
- Zwerwer, Leslie R.;
- Deelen, Patrick;
- Hendriksen, Dennis;
- Charbon, Bart;
- van Gijn, Marielle E.;
- Abbott, Kristin;
- Sikkema-Raddatz, Birgit;
- van Diemen, Cleo C.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk.
Published in:
American Journal of Gastroenterology (Springer Nature), 2010, v. 105, n. 2, p. 395, doi. 10.1038/ajg.2009.576
By:
- Festen, Eleonora A. M.;
- Stokkers, Pieter C. F.;
- van Diemen, Cleo C.;
- van Bodegraven, Adriaan A.;
- Boezen, H. Marieke;
- Crusius, Bart J. A.;
- Hommes, Daniel W.;
- van der Woude, Janneke C.;
- Balschun, Tobias;
- Verspaget, Hein W.;
- Schreiber, Stephan;
- de Jong, Dirk J.;
- Franke, Andre;
- Dijkstra, Gerard;
- Wijmenga, Cisca;
- Weersma, Rinse K.
Publication type:
Article
Corrigendum: Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk.
Published in:
2010
By:
- Festen, Eleonora A. M.;
- Stokkers, Pieter C. F.;
- van Diemen, Cleo C.;
- van Bodegraven, Adriaan A.;
- Boezen, H. Marieke;
- Crusius, Bart J. A.;
- Hommes, Daniel W.;
- van der Woude, Janneke C.;
- Balschun, Tobias;
- Verspaget, Hein W.;
- Schreiber, Stephan;
- de Jong, Dirk J.;
- Franke, Andre;
- Dijkstra, Gerard;
- Wijmenga, Cisca;
- Weersma, Rinse K.
Publication type:
Correction Notice

Found: 32