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,
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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Massalska D,
Bijok J,
Kucińska-Chahwan A,
Zimowski JG,
Ozdarska K,
Panek G,
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Clin Genet
2021 Oct;100(4):368-375.
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PMID: 34031868
Bedei I,
Wolter A,
Weber A,
Signore F,
Axt-Fliedner R
Genes (Basel)
2021 Mar 29;12(4)
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PMID: 33805390Free PMC Article
Sahajpal NS,
Barseghyan H,
Kolhe R,
Hastie A,
Chaubey A
Genes (Basel)
2021 Mar 11;12(3)
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Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
2018;147:355-376.
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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.
Epub 2023 Jul 1
doi: 10.1002/ajmg.a.63312.
PMID: 37392087Free PMC Article
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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PMID: 29447663Free PMC Article
Skuse D,
Printzlau F,
Wolstencroft J
Handb Clin Neurol
2018;147:355-376.
doi: 10.1016/B978-0-444-63233-3.00024-5.
PMID: 29325624
Tartaglia N,
Ayari N,
Howell S,
D'Epagnier C,
Zeitler P
Acta Paediatr
2011 Jun;100(6):851-60.
Epub 2011 Apr 8
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Therapy
Nogami K,
Shima M
Br J Haematol
2023 Jan;200(1):23-34.
Epub 2022 Jul 23
doi: 10.1111/bjh.18379.
PMID: 35869698
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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Skuse D,
Printzlau F,
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Handb Clin Neurol
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Margolis SS,
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Neurotherapeutics
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Klugman S,
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Simpson JL,
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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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PMID: 34031868
Cheng L,
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Looijenga LHJ
Nat Rev Dis Primers
2018 Oct 5;4(1):29.
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Levy B,
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Fertil Steril
2018 Feb;109(2):201-212.
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PMID: 29447663Free PMC Article
Zhang H,
Gao Y,
Jiang F,
Fu M,
Yuan Y,
Guo Y,
Zhu Z,
Lin M,
Liu Q,
Tian Z,
Zhang H,
Chen F,
Lau TK,
Zhao L,
Yi X,
Yin Y,
Wang W
Ultrasound Obstet Gynecol
2015 May;45(5):530-8.
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Izumi K,
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Am J Med Genet C Semin Med Genet
2014 Dec;166C(4):406-13.
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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.
Epub 2021 Jun 1
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PMID: 34031868
Capkova Z,
Capkova P,
Srovnal J,
Adamova K,
Prochazka M,
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Mol Genet Genomic Med
2021 Mar;9(3):e1592.
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Levy B,
Wapner R
Fertil Steril
2018 Feb;109(2):201-212.
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Gardner RJ
Clin Anat
2016 Jul;29(5):540-6.
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PMID: 26990310
Bernier R,
Steinman KJ,
Reilly B,
Wallace AS,
Sherr EH,
Pojman N,
Mefford HC,
Gerdts J,
Earl R,
Hanson E,
Goin-Kochel RP,
Berry L,
Kanne S,
Snyder LG,
Spence S,
Ramocki MB,
Evans DW,
Spiro JE,
Martin CL,
Ledbetter DH,
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Simons VIP consortium
Genet Med
2016 Apr;18(4):341-9.
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PMID: 26066539Free PMC Article