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Page 1
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Among authors: bottani a. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. Sousa SB, et al. Among authors: bottani a. Am J Med Genet A. 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. Am J Med Genet A. 2009. PMID: 19606471
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: bottani a. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Among authors: bottani a. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: bottani a. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Among authors: bottani a. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: bottani a. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.
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