Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals-Reference-Cited by-同舟云学术

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Published:2023-12-20 Issue:1 Volume:143 Page:71-84
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum. Genet.

Author:

Schmetz Ariane,Lüdecke Hermann-Josef,Surowy Harald,Sivalingam Sugirtahn,Bruel Ange-Line,Caumes Roseline,Charles Perrine,Chatron Nicolas,Chrzanowska Krystyna,Codina-Solà Marta,Colson Cindy,Cuscó Ivon,Denommé-Pichon Anne-Sophie,Edery Patrick,Faivre Laurence,Green Andrew,Heide Solveig,Hsieh Tzung-Chien,Hustinx Alexander,Kleinendorst Lotte,Knopp Cordula,Kraft Florian,Krawitz Peter M.,Lasa-Aranzasti Amaia,Lesca Gaetan,López-González Vanesa,Maraval Julien,Mignot Cyril,Neuhann Teresa,Netzer Christian,Oehl-Jaschkowitz Barbara,Petit Florence,Philippe Christophe,Posmyk Renata,Putoux Audrey,Reis André,Sánchez-Soler María José,Suh Julia,Tkemaladze Tinatin,Tran Mau Them Frédéric,Travessa André,Trujillano Laura,Valenzuela Irene,van Haelst Mieke M.,Vasileiou Georgia,Vincent-Delorme Catherine,Walther Mona,Verde Pablo,Bramswig Nuria C.,Wieczorek Dagmar

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02622-5.pdf

Reference26 articles.

1. Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, University of Washington Centre for Mendelian Genomics, Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genet Med 24:1261–1273. https://doi.org/10.1016/j.gim.2022.02.013

2. Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Undiagnosed Diseases N, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ (2020) BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms. Am J Hum Genet 107:1096–1112. https://doi.org/10.1016/j.ajhg.2020.11.003

3. Bogershausen N, Wollnik B (2018) Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders. Front Mol Neurosci 11:252. https://doi.org/10.3389/fnmol.2018.00252

4. Bosch E, Popp B, Guse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal O, Hartwich D, Holthofer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Abou Jamra R, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cusco I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Kelly Galindo M, Ropers FG, Nibbeling EA, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G (2023) Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med 25:100950. https://doi.org/10.1016/j.gim.2023.100950

5. Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Riviere JB, Thevenon J, Faivre L (2017) Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. Eur J Med Genet 60:595–604. https://doi.org/10.1016/j.ejmg.2017.08.011

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