Etiology
Srivastava S,
Sahin M,
Buxbaum JD,
Berry-Kravis E,
Soorya LV,
Thurm A,
Bernstein JA,
Asante-Otoo A,
Bennett WE Jr,
Betancur C,
Brickhouse TH,
Passos Bueno MR,
Chopra M,
Christensen CK,
Cully JL,
Dies K,
Friedman K,
Gummere B,
Holder JL Jr,
Jimenez-Gomez A,
Kerins CA,
Khan O,
Kohlenberg T,
Lacro RV,
Levi LA,
Levy T,
Linnehan D,
Eva L,
Moshiree B,
Neumeyer A,
Paul SM,
Phelan K,
Persico A,
Rapaport R,
Rogers C,
Saland J,
Sethuram S,
Shapiro J,
Tarr PI,
White KM,
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Winrow D,
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Kolevzon A
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Massalska D,
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Panek G,
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Clin Genet
2021 Oct;100(4):368-375.
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Sahajpal NS,
Barseghyan H,
Kolhe R,
Hastie A,
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Genes (Basel)
2021 Mar 11;12(3)
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Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
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Oneda B,
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Best Pract Res Clin Obstet Gynaecol
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Diagnosis
Srivastava S,
Sahin M,
Buxbaum JD,
Berry-Kravis E,
Soorya LV,
Thurm A,
Bernstein JA,
Asante-Otoo A,
Bennett WE Jr,
Betancur C,
Brickhouse TH,
Passos Bueno MR,
Chopra M,
Christensen CK,
Cully JL,
Dies K,
Friedman K,
Gummere B,
Holder JL Jr,
Jimenez-Gomez A,
Kerins CA,
Khan O,
Kohlenberg T,
Lacro RV,
Levi LA,
Levy T,
Linnehan D,
Eva L,
Moshiree B,
Neumeyer A,
Paul SM,
Phelan K,
Persico A,
Rapaport R,
Rogers C,
Saland J,
Sethuram S,
Shapiro J,
Tarr PI,
White KM,
Wickstrom J,
Williams KM,
Winrow D,
Wishart B,
Kolevzon A
Am J Med Genet A
2023 Aug;191(8):2015-2044.
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Mantere T,
Neveling K,
Pebrel-Richard C,
Benoist M,
van der Zande G,
Kater-Baats E,
Baatout I,
van Beek R,
Yammine T,
Oorsprong M,
Hsoumi F,
Olde-Weghuis D,
Majdali W,
Vermeulen S,
Pauper M,
Lebbar A,
Stevens-Kroef M,
Sanlaville D,
Dupont JM,
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Am J Hum Genet
2021 Aug 5;108(8):1409-1422.
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Viotti M
Genes (Basel)
2020 May 29;11(6)
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PMID: 32485954Free PMC Article
Levy B,
Wapner R
Fertil Steril
2018 Feb;109(2):201-212.
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Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
2018;147:355-376.
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PMID: 29325624
Therapy
Rodríguez-Grande EI,
Vargas-Pinilla OC,
Torres-Narvaez MR,
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Sci Rep
2022 Sep 2;12(1):14988.
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Yan J,
Qin Y,
Zhao H,
Sun Y,
Gong F,
Li R,
Sun X,
Ling X,
Li H,
Hao C,
Tan J,
Yang J,
Zhu Y,
Liu F,
Chen D,
Wei D,
Lu J,
Ni T,
Zhou W,
Wu K,
Gao Y,
Shi Y,
Lu Y,
Zhang T,
Wu W,
Ma X,
Ma H,
Fu J,
Zhang J,
Meng Q,
Zhang H,
Legro RS,
Chen ZJ
N Engl J Med
2021 Nov 25;385(22):2047-2058.
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Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
2018;147:355-376.
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Margolis SS,
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Neurotherapeutics
2015 Jul;12(3):641-50.
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Wapner RJ,
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Klugman S,
Scholl T,
Simpson JL,
McCall K,
Aggarwal VS,
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N Engl J Med
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Prognosis
Massalska D,
Bijok J,
Kucińska-Chahwan A,
Zimowski JG,
Ozdarska K,
Panek G,
Roszkowski T
Clin Genet
2021 Oct;100(4):368-375.
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Cheng L,
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Nat Rev Dis Primers
2018 Oct 5;4(1):29.
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Levy B,
Wapner R
Fertil Steril
2018 Feb;109(2):201-212.
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Izumi K,
Krantz ID
Am J Med Genet C Semin Med Genet
2014 Dec;166C(4):406-13.
Epub 2014 Nov 25
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Souka AP,
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Am J Obstet Gynecol
2005 Apr;192(4):1005-21.
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Clinical prediction guides
Massalska D,
Bijok J,
Kucińska-Chahwan A,
Zimowski JG,
Ozdarska K,
Panek G,
Roszkowski T
Clin Genet
2021 Oct;100(4):368-375.
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PMID: 34031868
Capkova Z,
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Levy B,
Wapner R
Fertil Steril
2018 Feb;109(2):201-212.
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Gardner RJ
Clin Anat
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PMID: 26990310
Bernier R,
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Sherr EH,
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Mefford HC,
Gerdts J,
Earl R,
Hanson E,
Goin-Kochel RP,
Berry L,
Kanne S,
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Spence S,
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Simons VIP consortium
Genet Med
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