Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies

Por Dudbridge, Frank, Koeleman, Bobby P. C.
Publicado em 2004

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Por Schijven, Dick, Stevelink, Remi, McCormack, Mark, van Rheenen, Wouter, Luykx, Jurjen J., Koeleman, Bobby P.C., Veldink, Jan H.
Publicado no Neurobiol Aging (2020)

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

Por Stevelink, Remi, Pangilinan, Faith, Jansen, Floor E., Braun, Kees P.J., Molloy, Anne M., Brody, Lawrence C., Koeleman, Bobby P.C.
Publicado no Mol Genet Metab Rep (2019)

Febrile temperatures unmask biophysical defects in Na(v)1.1 epilepsy mutations supportive of seizure initiation

Por Volkers, Linda, Kahlig, Kristopher M., Das, Joost H.G., van Kempen, Marjan J.A., Lindhout, Dick, Koeleman, Bobby P.C., Rook, Martin B.
Publicado em 2013

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

Por Sanders, Maurits W. C. B., Lemmens, Cynthia M. C., Jansen, Floor E., Brilstra, Eva H., Koeleman, Bobby P. C., Braun, Kees P. J.
Publicado no Epilepsia Open (2019)

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

Por van Eerde, Albertien M., Koeleman, Bobby P. C., van de Kamp, Jiddeke M., de Jong, Tom P. V. M., Wijmenga, Cisca, Giltay, Jacques C.
Publicado em 2007

Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes

Por Claessens, Laura A., Wesselius, Joris, van Lummel, Menno, Laban, Sandra, Mulder, Flip, Mul, Dick, Nikolic, Tanja, Aanstoot, Henk-Jan, Koeleman, Bobby P. C., Roep, Bart O.
Publicado no Diabetologia (2019)

Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

Por Sánchez, Elena, Sabio, José M, Callejas, José L, de Ramón, Enrique, Garcia-Portales, Rosa, García-Hernández, Francisco J, Jiménez-Alonso, Juan, González-Escribano, Ma Francisca, Martín, Javier, Koeleman, Bobby P
Publicado em 2006

Polymorphisms in ACVRL1 and Endoglin genes are not associated with sporadic and HHT related brain AVMs in Dutch patients

Por Boshuisen, Kim, Brundel, Manon, de Kovel, Carolien G.F., Letteboer, Tom G., Rinkel, Gabriel J.E., Westermann, Cornelis J.J., Kim, Helen, Pawlikowska, Ludmila, Koeleman, Bobby P.C., Klijn, Catharina J.M.
Publicado em 2012

Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease

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

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

Por Weuring, Wout J., Singh, Sakshi, Volkers, Linda, Rook, Martin B., van ‘t Slot, Ruben H., Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M., Braun, Kees P. J., Rivara, Mirko, Koeleman, Bobby P. C.
Publicado no PLoS One (2020)

Na(v)1.1 Dysfunction in Genetic Epilepsy with Febrile Seizures Plus or Dravet Syndrome

Por Volkers, Linda, Kahlig, Kristopher M., Verbeek, Nienke E., Das, Joost H.G., van Kempen, Marjan J.A., Stroink, Hans, Augustijn, Paul, van Nieuwenhuizen, Onno, Lindhout, Dick, George, Alfred L., Koeleman, Bobby P.C., Rook, Martin B.
Publicado em 2011

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

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

Modifier genes in SCN1A‐related epilepsy syndromes

Por de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado no Mol Genet Genomic Med (2020)

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Por Boerma, Ragna S., Braun, Kees P., van den Broek, Marcel P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado no Neurotherapeutics (2015)

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Por Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado no Neurotherapeutics (2015)

Abnormal islet sphingolipid metabolism in type 1 diabetes

Por Holm, Laurits J., Krogvold, Lars, Hasselby, Jane P., Kaur, Simranjeet, Claessens, Laura A., Russell, Mark A., Mathews, Clayton E., Hanssen, Kristian F., Morgan, Noel G., Koeleman, Bobby P. C., Roep, Bart O., Gerling, Ivan C., Pociot, Flemming, Dahl-Jørgensen, Knut, Buschard, Karsten
Publicado no Diabetologia (2018)

Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain

Por Kremer, Philip H. C., Koeleman, Bobby P. C., Pawlikowska, Ludmila, Weinsheimer, Shantel, Bendjilali, Nasrine, Sidney, Stephen, Zaroff, Jonathan G., Rinkel, Gabriel J. E., van den Berg, Leonard H., Ruigrok, Ynte M., de Kort, Gerard A. P., Veldink, Jan H., Kim, Helen, Klijn, Catharina J. M.
Publicado no J Neurol Neurosurg Psychiatry (2014)

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Por de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., van ‘t Slot, Ruben, van Lieshout, Stef, Nijman, Isaac J, O'Brien, Janelle E., Hammer, Michael F., Estacion, Mark, Waxman, Stephen G., Dib-Hajj, Sulayman D., Koeleman, Bobby P.C.
Publicado no Epilepsy Res (2014)

Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases

Por Zhernakova, Alexandra , Alizadeh, Behrooz Z. , Bevova, Marianna , Leeuwen, Miek A. van , Coenen, Marieke J. H. , Franke, Barbara , Franke, Lude , Posthumus, Marcel D. , Heel, David A. van , Steege, Gerrit van der , Radstake, Timothy R. D. J. , Barrera, Pilar , Roep, Bart O. , Koeleman, Bobby P. C. , Wijmenga, Cisca 
Publicado em 2007