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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Among authors: gener b. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: gener b. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA. Cospain A, et al. Among authors: gener b. Genet Med. 2022 Dec;24(12):2475-2486. doi: 10.1016/j.gim.2022.09.002. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36197437 Free article.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I. Codina-Solà M, et al. Among authors: gener b. Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Mol Autism. 2015. PMID: 25969726 Free PMC article.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: gener b. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: gener b. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Among authors: gener b. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
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