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Year Number of Results
1990 1
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1995 3
1997 2
2000 4
2001 2
2002 5
2003 5
2004 9
2005 13
2006 14
2007 13
2008 3
2009 6
2010 16
2011 12
2012 17
2013 17
2014 18
2015 19
2016 21
2017 14
2018 17
2019 16
2020 11
2021 10
2022 6
2023 10
2024 1

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249 results

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Page 1
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: koeleman bpc. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A, Padyukov L, Hoffmann-Vold AM, Lie B; European Scleroderma Group†; Proudman S, Stevens W, Nikpour M; Australian Scleroderma Interest Group (ASIG); Vyse T, Herrick AL, Worthington J, Denton CP, Allanore Y, Brown MA, Radstake TRDJ, Fonseca C, Chang HY, Mayes MD, Martin J. López-Isac E, et al. Among authors: koeleman bpc. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 Free PMC article.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: koeleman bpc. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Gene Therapies for Monogenic Autism Spectrum Disorders.
Weuring W, Geerligs J, Koeleman BPC. Weuring W, et al. Among authors: koeleman bpc. Genes (Basel). 2021 Oct 22;12(11):1667. doi: 10.3390/genes12111667. Genes (Basel). 2021. PMID: 34828273 Free PMC article. Review.
De novo variants in neurodevelopmental disorders with epilepsy.
Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium; Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. Heyne HO, et al. Among authors: koeleman bpc. Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25. Nat Genet. 2018. PMID: 29942082
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.
Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R; EpiPGX Consortium; Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE, Moya-Alfaro ML, Zhang Y, Zhou D, Pietrafusa N, Specchio N, Japaridze G, Beniczky S, Janmohamed M, Kwan P, Syvertsen M, Selmer KK, Vorderwülbecke BJ, Holtkamp M, Viswanathan LG, Sinha S, Baykan B, Altindag E, von Podewils F, Schulz J, Seneviratne U, Viloria-Alebesque A, Karakis I, D'Souza WJ, Sander JW, Koeleman BPC, Otte WM, Braun KPJ. Stevelink R, et al. Among authors: koeleman bpc. EClinicalMedicine. 2022 Nov 11;53:101732. doi: 10.1016/j.eclinm.2022.101732. eCollection 2022 Nov. EClinicalMedicine. 2022. PMID: 36467455 Free PMC article.
Somatic variant analysis of resected brain tissue in epilepsy surgery patients.
Sanders MWCB, Koeleman BPC, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, Ko A, Kang HC, Blümcke I, Lal D, Baulac S, Lee JH, Aronica E, Braun KPJ. Sanders MWCB, et al. Among authors: koeleman bpc. Epilepsia. 2024 Dec;65(12):e209-e215. doi: 10.1111/epi.18148. Epub 2024 Oct 26. Epilepsia. 2024. PMID: 39460693 Free PMC article.
249 results