| Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects E Boscolo, N Limaye, L Huang, KT Kang, J Soblet, M Uebelhoer, ... The Journal of clinical investigation 125 (9), 3491-3504, 2015 | 230 | 2015 |
| Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations J Soblet, J Kangas, M Nätynki, A Mendola, R Helaers, M Uebelhoer, ... Journal of Investigative Dermatology 137 (1), 207-216, 2017 | 192 | 2017 |
| Variable somatic TIE2 mutations in half of sporadic venous malformations J Soblet, N Limaye, M Uebelhoer, LM Boon, M Vikkula Molecular syndromology 4 (4), 179-183, 2013 | 171 | 2013 |
| HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ... Brain 141 (11), 3160-3178, 2018 | 117 | 2018 |
| Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB M Uebelhoer, M Nätynki, J Kangas, A Mendola, HL Nguyen, J Soblet, ... Human molecular genetics 22 (17), 3438-3448, 2013 | 106 | 2013 |
| Classification of vascular anomalies: an update JE Steiner, BA Drolet Seminars in Interventional Radiology 34 (03), 225-232, 2017 | 99 | 2017 |
| Common and specific effects of TIE2 mutations causing venous malformations M Nätynki, J Kangas, I Miinalainen, R Sormunen, R Pietilä, J Soblet, ... Human molecular genetics 24 (22), 6374-6389, 2015 | 97 | 2015 |
| Vascular anomalies caused by abnormal signaling within endothelial cells: targets for novel therapies HL Nguyen, LM Boon, M Vikkula Seminars in interventional radiology 34 (03), 233-238, 2017 | 60 | 2017 |
| IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ... Genetics in Medicine 21 (4), 837-849, 2019 | 57 | 2019 |
| BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems J Soblet, I Dimov, C Graf von Kalckreuth, J Cano‐Chervel, S Baijot, K Pelc, ... American Journal of Medical Genetics Part A 176 (1), 201-208, 2018 | 30 | 2018 |
| Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways S Duerinckx, V Jacquemin, S Drunat, Y Vial, S Passemard, C Perazzolo, ... Human mutation 41 (2), 512-524, 2020 | 20 | 2020 |
| Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus, and cleft palate in mice and men C Brachet, EA Kozhemyakina, E Boros, C Heinrichs, I Balikova, J Soblet, ... The Journal of Clinical Endocrinology & Metabolism 104 (7), 2925-2930, 2019 | 15 | 2019 |
| Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy S Duerinckx, J Désir, C Perazzolo, C Badoer, V Jacquemin, J Soblet, ... Molecular genetics & genomic medicine 9 (9), e1768, 2021 | 10 | 2021 |
| Three cases of molecularly confirmed Knobloch syndrome I Balikova, NS Sanak, D Fanny, G Smits, J Soblet, E De Baere, ... Ophthalmic genetics 41 (1), 83-87, 2020 | 9 | 2020 |
| Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance V Jacquemin, N Versbraegen, S Duerinckx, A Massart, J Soblet, ... Human genomics 17 (1), 16, 2023 | 6 | 2023 |
| New variant in deficiency of interleukin‐36 receptor antagonist syndrome (DITRA). D Salik, S Zoghaib, C Dangoisse, U Sass, A Kolivras, J Soblet, C Vilain International journal of dermatology 60 (7), 2021 | 5 | 2021 |
| Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives C Brachet, C Gernay, E Boros, J Soblet, C Vilain, C Heinrichs Journal of Pediatric Endocrinology and Metabolism 33 (9), 1237-1240, 2020 | 5 | 2020 |
| Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy R Santalucia, C Vilain, J Soblet, C De Laet, A Vuckovic, J König, A Aeby Annals of clinical and translational neurology 9 (7), 1095-1099, 2022 | 4 | 2022 |
| Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea A Sassi, J Désir, S Duerinckx, J Soblet, S Van Dooren, M Bonduelle, ... Molecular genetics & genomic medicine 9 (10), e1776, 2021 | 4 | 2021 |
| Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3 L Paternoster, J Soblet, A Aeby, X De Tiège, S Goldman, WW Yue, ... American Journal of Medical Genetics Part A 182 (11), 2685-2693, 2020 | 3 | 2020 |
Laurence M BoonProfessor, Coord. Vasc Anom Ctr, Clin. univ. St Luc, Univ cathol LouvainVerified email at uclouvain.be
