| 1 | MAGEL2, PWLAD
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| Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
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| Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A.
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| Am J Hum Genet. Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21. 2024
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| 2 | MAGEL2, PWLAD
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| MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
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| Schubert T, Schaaf CP.
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| Dev Med Child Neurol. Jul 1. doi: 10.1111/dmcn.16018. Epub ahead of print. 2024
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| 3 | MAGEL2, PWLAD
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| MAGEL2-related disorders: A study and case series.
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| Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR.
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| Clin Genet. Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22. 2019
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| 4 | MAGEL2, PWLAD
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| Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
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| Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J.
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| J Bone Miner Res. Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. 2019
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| 5 | MAGEL2, PWLAD
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| Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.
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| Tacer KF, Potts PR.
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| Biochem J. Jun 16;474(13):2177-2190. doi: 10.1042/BCJ20160616. 2017
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| 6 | MAGEL2, PWLAD
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| Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
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| Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y.
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| Nat Genet 45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29.
2013
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