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Page 1
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: callewaert b. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.
Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B. Buysse K, et al. Among authors: callewaert b. Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041960
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: callewaert b. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Recurrent duplications of 17q12 associated with variable phenotypes.
Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Mitchell E, et al. Among authors: callewaert b. Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420380
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: callewaert b. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: callewaert b. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. Among authors: callewaert b. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: callewaert b. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
173 results