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Comment
. 2019 Nov;21(11):2654-2655.
doi: 10.1038/s41436-019-0546-6. Epub 2019 May 20.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

Svetlana Gorokhova  1   2 , Jeremie Mortreux  3   4 , Alexandra Afenjar  5   6   7 , Tania Attie-Bitach  8   9   10 , Maud Blanluet  11 , Valérie Cormier-Daire  8   9   12 , Anne-Marie Guerrot  13 , Anne-Sophie Lebre  14 , Valérie Malan  8   9   10 , Gael Nicolas  13 , Sophie Rondeau  8   9   15 , Nicole Philip  3   4 , Pascale Saugier-Veber  13 , Catherine Badens  3   4 , Chantal Missirian  3   4
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Free article
Comment

Significant contribution of intragenic deletions to ARID1B mutation spectrum

Svetlana Gorokhova et al. Genet Med. 2019 Nov.
Free article
No abstract available

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Comment in

  • Response to Gorokhova et al.
    van der Sluijs EPJ, Ruivenkamp CAL, Santen GWE. van der Sluijs EPJ, et al. Genet Med. 2019 Nov;21(11):2656-2657. doi: 10.1038/s41436-019-0547-5. Epub 2019 May 20. Genet Med. 2019. PMID: 31105272 No abstract available.

Comment on

  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
    van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.

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References

    1. van der Sluijs PJ, Jansen S, Vergano SA, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome. Genet Med. 2018. https://doi.org/10.1038/s41436-018-0330-z [Epub ahead of print].
    1. Schrier Vergano S., et al. Coffin–Siris syndrome. In: Adam MP, et al., (Eds.) GeneReviews. Seattle, WA: University of Washington; 2018.
    1. Truty R, Joshua P, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med. 2019;21:114–123. - DOI

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