Hans van Bokhoven - Selected Publications#
H-Index: 70, 290 Papers, Citations: 14,789. ResearcherID: H-8015-2014
1) Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genet Med. Epub ahead of print. PubMed PMID: 30287925 (IF 9.94)
2) Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MA, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer AP, van Bokhoven H#, Riazuddin S# (2017) Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry 22(11):1604-1614 (IF 11.64, 14 citations)
3) Benevento M, Iacono G, Selten M, Ba W, Oudakker A, Frega M, Keller J, Mancini R, Lewerissa E, Kleefstra T, Stunnenberg HG, Zhou H, van Bokhoven H, Nadif Kasri N (2016) Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. Neuron 91(2):341-55 (IF 14.32, 15 citations). This paper nicely demonstrates that my genetics research has expanded to studies into mechanisms of disease, by using neurophysiology, cell biology, epigenomics and animal reserach.
4) Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H (2015) De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat Commun. 6:7199 (IF 12.35; 18 citations). This paper is the first demonstration of de novo gene mutations in Möbius syndrome, which has kept the field puzzling for over a century.
5) Kouwenhoven EN, Oti M, Niehues H, van Heeringen SJ, Schalkwijk J, Stunnenberg HG, van Bokhoven H, Zhou H (2015) Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation. EMBO Rep. 16(7):863-78 (IF 8.57, 41 citations). This paper exemplies my leading role in reserach on the p53-family member p63.
6) Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H (2013) Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 22(9):1746-54(IF4.90, 87 citations)
7) Jae LT, Raaben M, Riemersma M, van Beusekom E, Blomen VA, Velds A, Kerkhoven RM, Carette JE, Topaloglu H, Meinecke P, Wessels MW, Lefeber DJ, Whelan SP#, van Bokhoven H#, Brummelkamp TR# (2013). Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry. Science. 340(6131):479-83 (IF37.21, 154 citations) Herewe identified 2 novel duystroglycanopaty genes using an innovative functional screening approach)
8) Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 44(5):581-585 (IF 27.13, 116 citations; this paper underscores my major contribution to link defective O-glycosylation to a distinctive groep of neurodevelopmental disorders, now known as dystroglycanopathies)
9) Van Bokhoven H (2011) Genetic and Epigenetic Networks in Intellectual Disabilities. Ann Rev Genet 45:81-104 (highly cited monograph, IF 9.59, 169 citations)
10) Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H (2006) Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome. Am J Hum Genet 79, 370-377 (This paper highlighted the importance of epigenetic deregulation in neurodevelopmental disorders)
