A concise history of genome-wide association studies

by Bobby P. C. Koeleman, Amein Al-Ali, Sander W van der Laan, Folkert W Asselbergs
Published 2013-01-01

Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

by Remi Stevelink, Faith Pangilinan, Floor E. Jansen, Kees P.J. Braun, Anne M. Molloy, Lawrence C. Brody, Bobby P.C. Koeleman
Published 2019-12-01

Implications of genetic diagnostics in epilepsy surgery candidates: A single‐center cohort study

by Maurits W. C. B. Sanders, Cynthia M. C. Lemmens, Floor E. Jansen, Eva H. Brilstra, Bobby P. C. Koeleman, Kees P. J. Braun, the Dutch Collaborative Epilepsy Surgery Program (LWEC)
Published 2019-12-01

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

by Kristen N Stevens, Hakon Hakonarson, Cecilia E Kim, Pieter A Doevendans, Bobby P C Koeleman, Seema Mital, Jennifer Raue, Joseph T Glessner, John G Coles, Victor Moreno, Anne Granger, Stephen B Gruber, Peter J Gruber
Published 2010-05-01

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

by Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman
Published 2020-01-01

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

by Nasrine Bendjilali, Helen Kim, Shantel Weinsheimer, Diana E Guo, Pui-Yan Kwok, Jonathan G Zaroff, Stephen Sidney, Michael T Lawton, Charles E McCulloch, Bobby P C Koeleman, Catharina J M Klijn, William L Young, Ludmila Pawlikowska
Published 2013-01-01

Modifier genes in SCN1A‐related epilepsy syndromes

by Iris M. de Lange, Flip Mulder, Ruben van 'tSlot, Anja C. M. Sonsma, Marjan J. A. vanKempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Published 2020-04-01

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

by Iris M. deLange, Wout Weuring, Ruben van‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien deKovel, Lisette J. J. M. vanGemert, Flip Mulder, Marjan J. A. vanKempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Published 2019-07-01

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.

by Carolien G de Kovel, Flip Mulder, Jessica van Setten, Ruben van 't Slot, Abdullah Al-Rubaish, Abdullah M Alshehri, Khalid Al Faraidy, Abdullah Al-Ali, Mohammed Al-Madan, Issa Al Aqaili, Emmanuel Larbi, Rudaynah Al-Ali, Alhusain Alzahrani, Folkert W Asselbergs, Bobby P C Koeleman, Amein Al-Ali
Published 2016-01-01

Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population

by Sayed AbdulAzeez, Awatif N. Al-Nafie, Abdullah Al-Shehri, J. Francis Borgio, Ekaterina V. Baranova, Mohammed S. Al-Madan, Rudaynah A. Al-Ali, Fahad Al-Muhanna, Abdullah Al-Ali, Mohammed Al-Mansori, Mohammed Fakhry Ibrahim, Folkert W. Asselbergs, Brendan Keating, Bobby P. C. Koeleman, Amein K. Al-Ali
Published 2016-03-01

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

by Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette
Published 2021-07-01

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

by Albertien M van Eerde, Karen Duran, Els van Riel, Carolien G F de Kovel, Bobby P C Koeleman, Nine V A M Knoers, Kirsten Y Renkema, Henricus J R van der Horst, Arend Bökenkamp, Johanna M van Hagen, Leonard H van den Berg, Katja P Wolffenbuttel, Joop van den Hoek, Wouter F Feitz, Tom P V M de Jong, Jacques C Giltay, Cisca Wijmenga
Published 2012-01-01

Genomic and clinical predictors of lacosamide response in refractory epilepsies

by Sinéad B. Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley, Andreja Avbersek, Jan Novy, Saurabh R. Sinha, Rod Radtke, Colin Doherty, Pauls Auce, John Craig, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Terence J. O'Brien, Josemir W. Sander, Graeme J. Sills, Hreinn Stefansson, Pasquale Striano, Federico Zara, EPIGEN Consortium, EpiPGX Consortium, Chantal Depondt, Sanjay Sisodiya, David Goldstein, Holger Lerche, Gianpiero L. Cavalleri, Norman Delanty
Published 2019-12-01

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

by Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Published 2020-03-01

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

by Katri Silvennoinen, Nikola deLange, Sara Zagaglia, Simona Balestrini, Ganna Androsova, Merel Wassenaar, Pauls Auce, Andreja Avbersek, Felicitas Becker, Bianca Berghuis, Ellen Campbell, Antonietta Coppola, Ben Francis, Stefan Wolking, Gianpiero L. Cavalleri, John Craig, Norman Delanty, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Job van derPalen, Roland Krause, Chantal Depondt, Sanjay M. Sisodiya, the EpiPGX Consortium
Published 2019-09-01

Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications

by Stefan Wolking, Stefan Wolking, Ciarán Campbell, Caragh Stapleton, Mark McCormack, Norman Delanty, Norman Delanty, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Anthony G. Marson, Anthony G. Marson, Josemir W. Sander, Josemir W. Sander, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Holger Lerche, EpiPGX Consortium
Published 2021-06-01

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

by Elena López-Isac, Marialbert Acosta-Herrera, Martin Kerick, Shervin Assassi, Ansuman T. Satpathy, Jeffrey Granja, Maxwell R. Mumbach, Lorenzo Beretta, Carmen P. Simeón, Patricia Carreira, Norberto Ortego-Centeno, Ivan Castellvi, Lara Bossini-Castillo, F. David Carmona, Gisela Orozco, Nicolas Hunzelmann, Jörg H. W. Distler, Andre Franke, Claudio Lunardi, Gianluca Moroncini, Armando Gabrielli, Jeska de Vries-Bouwstra, Cisca Wijmenga, Bobby P. C. Koeleman, Annika Nordin, Leonid Padyukov, Anna-Maria Hoffmann-Vold, Benedicte Lie, European Scleroderma Group†, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Timothy Vyse, Ariane L. Herrick, Jane Worthington, Christopher P. Denton, Yannick Allanore, Matthew A. Brown, Timothy R. D. J. Radstake, Carmen Fonseca, Howard Y. Chang, Maureen D. Mayes, Javier Martin
Published 2019-10-01

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

by Bram P Prins, Ali Abbasi, Anson Wong, Ahmad Vaez, Ilja Nolte, Nora Franceschini, Philip E Stuart, Javier Guterriez Achury, Vanisha Mistry, Jonathan P Bradfield, Ana M Valdes, Jose Bras, Aleksey Shatunov, PAGE Consortium, International Stroke Genetics Consortium, Systemic Sclerosis consortium, Treat OA consortium, DIAGRAM Consortium, CARDIoGRAMplusC4D Consortium, ALS consortium, International Parkinson’s Disease Genomics Consortium, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, CKDGen consortium, GERAD1 Consortium, International Consortium for Blood Pressure, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Inflammation Working Group of the CHARGE Consortium, Chen Lu, Buhm Han, Soumya Raychaudhuri, Steve Bevan, Maureen D Mayes, Lam C Tsoi, Evangelos Evangelou, Rajan P Nair, Struan F A Grant, Constantin Polychronakos, Timothy R D Radstake, David A van Heel, Melanie L Dunstan, Nicholas W Wood, Ammar Al-Chalabi, Abbas Dehghan, Hakon Hakonarson, Hugh S Markus, James T Elder, Jo Knight, Dan E Arking, Timothy D Spector, Bobby P C Koeleman, Cornelia M van Duijn, Javier Martin, Andrew P Morris, Rinse K Weersma, Cisca Wijmenga, Patricia B Munroe, John R B Perry, Jennie G Pouget, Yalda Jamshidi, Harold Snieder, Behrooz Z Alizadeh
Published 2016-06-01

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

by Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P. C. Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C. Broen, Madelon C. Vonk, Carmen P. Simeon, Behrooz Z. Alizadeh, Marieke J. H. Coenen, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A. Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Francisco J. García-Hernández, María F. González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A. Lie, Anna-Maria Hoffmann-Vold, Øyvind Palm, Paloma García de la Peña, Patricia Carreira, Spanish Scleroderma Group, John Varga, Monique Hinchcliff, Annette T. Lee, Pravitt Gourh, Christopher I. Amos, Frederick M. Wigley, Laura K. Hummers, J. Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P. Denton, Peter K. Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K. Tan, Frank C. Arnett, Timothy R. D. J. Radstake, Maureen D. Mayes, Javier Martin
Published 2011-08-01

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

by Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P. C. Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C. Broen, Madelon C. Vonk, Carmen P. Simeon, Behrooz Z. Alizadeh, Marieke J. H. Coenen, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A. Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Francisco J. García-Hernández, María F. González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A. Lie, Anna-Maria Hoffmann-Vold, Øyvind Palm, Paloma García de la Peña, Patricia Carreira, Spanish Scleroderma Group, John Varga, Monique Hinchcliff, Annette T. Lee, Pravitt Gourh, Christopher I. Amos, Frederick M. Wigley, Laura K. Hummers, J. Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P. Denton, Peter K. Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K. Tan, Frank C. Arnett, Timothy R. D. J. Radstake, Maureen D. Mayes, Javier Martin
Published 2011-08-01