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Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR. Beyltjens T, et al. Among authors: revencu n. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14. J Med Genet. 2023. PMID: 36241386 Free PMC article.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. Hoischen A, et al. Among authors: revencu n. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: revencu n. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Khandelwal KD, et al. Among authors: revencu n. Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17. Am J Med Genet A. 2017. PMID: 28513979
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. Hsieh TC, et al. Among authors: revencu n. Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. Genet Med. 2019. PMID: 31164752 Free PMC article.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Among authors: revencu n. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538
94 results