ProfileOfResearchers

TITLE: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
AUTHORS: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz Pallares, Nathalie; Tran Mau Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 5

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TITLE: ARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer Zirnsak, Bjoern; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9

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TITLE: Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ReCQL4 mutations in 39 patients Full Text
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; P Cordier; Goldenberg, A; Demeer, B; Wright, M; Blair, E; Puzenat, E; Parent, P; Sznajer, Y; Francannet, C; DiDonato, N; Boute, O; Barlogis, V; Moldovan, O; Bessis, D; Coubes, C; Tardieu, M; Cormier Daire, V; Sousa, AB; Franques, J; Toutain, A; Tajir, M; Elalaoui, SC; Genevieve, D; Thevenon, J; B Courcet; B Riviere; Collet, C; Gigot, N; Faivre, L; Thauvin Robinet, C; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3

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TITLE: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Full Text
AUTHORS: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; Hennekam, RCM; van Belzen, MJ; Almureikhi, M; Baban, A; Barbosa, M; Ben Omran, T; Berry, K; Bigoni, S; Boute, O; Brueton, L; van der Burgt, I; Canham, N; Chandler, KE; Chrzanowska, K; Collins, AL; de Toni, T; Dean, J; den Hollander, NS; Flore, LA; Fryer, A; Gardham, A; Graham, JM; Harrison, V; Horn, D; Jongmans, MC; Josifova, D; Kant, SG; Kapoor, S; Kingston, H; Kini, U; Kleefstra, T; Krajewska-Walasek Malgorzata; Kramer, N; Maas, SM; Maciel, P ; Mancini Grazia M.S.; Maystadt, I; McKee, S; Milunsky, JM; Nampoothiri, S; Newbury Ecob, R; Nikkel, SM; Parker, MJ; Perez Jurado, LA; Robertson, SP; Rooryck, C; Shears, D; Silengo, M; Singh, A; Smigiel, R; Soares, G; Splitt, M; Stewart, H; Sweeney, E; Tassabehji, M; Temple, IK; Tuysuz, B; van Eerde, AM; Vincent Delorme, C; Wilson, LC; Yesil, G; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11

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