De novo mutations of SETBP1 cause Schinzel-Giedion syndrome A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ... Nature genetics 42 (6), 483-485, 2010 | 593 | 2010 |
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ... Human mutation 29 (7), 959-965, 2008 | 446 | 2008 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 137 (6), 1676-1700, 2014 | 299 | 2014 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? brain, 1676-700, 2014 | 299* | 2014 |
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ... Human mutation 34 (12), 1632-1641, 2013 | 282 | 2013 |
Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ... Circulation 136 (11), 1037-1048, 2017 | 245 | 2017 |
Cerebral cavernous malformation: new molecular and clinical insights N Revencu, M Vikkula Journal of medical genetics 43 (9), 716-721, 2006 | 209 | 2006 |
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 199 | 2012 |
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 179 | 2014 |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium … RLL de Lima, SA Hoper, M Ghassibe, ME Cooper, NK Rorick, S Kondo, ... Genetics in medicine 11 (4), 241-247, 2009 | 160 | 2009 |
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population M Ghassibé, B Bayet, N Revencu, C Verellen-Dumoulin, Y Gillerot, ... European journal of human genetics 13 (11), 1239-1242, 2005 | 123 | 2005 |
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly C Fallet-Bianco, A Laquerrière, K Poirier, F Razavi, F Guimiot, P Dias, ... Acta neuropathologica communications 2, 1-22, 2014 | 122 | 2014 |
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 118 | 2013 |
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges O Vanakker, C Vilain, K Janssens, N Van der Aa, G Smits, C Bandelier, ... European journal of medical genetics 57 (4), 151-156, 2014 | 109 | 2014 |
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes M Basha, B Demeer, N Revencu, R Helaers, S Theys, SB Saba, O Boute, ... Journal of medical genetics 55 (7), 449-458, 2018 | 104 | 2018 |
A novel association between RASA1 mutations and spinal arteriovenous anomalies R Thiex, JB Mulliken, N Revencu, LM Boon, PE Burrows, M Cordisco, ... American journal of neuroradiology 31 (4), 775-779, 2010 | 96 | 2010 |
PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 88 | 2019 |
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, ... Journal of medical genetics 41 (2), e15-e15, 2004 | 84 | 2004 |
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey TA Briggs, GI Rice, N Adib, L Ades, S Barete, K Baskar, V Baudouin, ... Journal of clinical immunology 36, 220-234, 2016 | 82 | 2016 |
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish M Ghassibe-Sabbagh, L Desmyter, T Langenberg, F Claes, O Boute, ... The American Journal of Human Genetics 88 (2), 150-161, 2011 | 70 | 2011 |