Etiology
Zaqout S,
Mannaa A,
Klein O,
Krajewski A,
Klose J,
Luise-Becker L,
Elsabagh A,
Ferih K,
Kraemer N,
Ravindran E,
Makridis K,
Kaindl AM
Ann Hum Genet
2023 Mar;87(1-2):50-62.
Epub 2022 Nov 29
doi: 10.1111/ahg.12489.
PMID: 36448252
Khalaf-Nazzal R,
Fasham J,
Inskeep KA,
Blizzard LE,
Leslie JS,
Wakeling MN,
Ubeyratna N,
Mitani T,
Griffith JL,
Baker W,
Al-Hijawi F,
Keough KC,
Gezdirici A,
Pena L,
Spaeth CG,
Turnpenny PD,
Walsh JR,
Ray R,
Neilson A,
Kouranova E,
Cui X,
Curiel DT,
Pehlivan D,
Akdemir ZC,
Posey JE,
Lupski JR,
Dobyns WB,
Stottmann RW,
Crosby AH,
Baple EL
Am J Hum Genet
2022 Nov 3;109(11):2068-2079.
Epub 2022 Oct 24
doi: 10.1016/j.ajhg.2022.09.012.
PMID: 36283405Free PMC Article
van Gemert LA,
Leen WG,
Draaisma JM,
Roeleveld N,
Willemsen MA
Eur J Paediatr Neurol
2022 May;38:73-76.
Epub 2022 Apr 27
doi: 10.1016/j.ejpn.2022.04.005.
PMID: 35500464
Gallo LG,
Martinez-Cajas J,
Peixoto HM,
Pereira ACEDS,
Carter JE,
McKeown S,
Schaub B,
Ventura CV,
de França GVA,
Pomar L,
Ventura LO,
Nerurkar VR,
de Araújo WN,
Velez MP
BMC Public Health
2020 Jun 1;20(1):827.
doi: 10.1186/s12889-020-08946-5.
PMID: 32487247Free PMC Article
Diagnosis
Gallo LG,
Martinez-Cajas J,
Peixoto HM,
Pereira ACEDS,
Carter JE,
McKeown S,
Schaub B,
Ventura CV,
de França GVA,
Pomar L,
Ventura LO,
Nerurkar VR,
de Araújo WN,
Velez MP
BMC Public Health
2020 Jun 1;20(1):827.
doi: 10.1186/s12889-020-08946-5.
PMID: 32487247Free PMC Article
Swartz JM,
Akinci A,
Andrew SF,
Siğirci A,
Hirschhorn JN,
Rosenfeld RG,
Dauber A,
Hwa V
Horm Res Paediatr
2014;82(5):344-52.
Epub 2014 Nov 1
doi: 10.1159/000368192.
PMID: 25376329Free PMC Article
Berger A,
Reitter A,
Harter PN,
Buxmann H,
Allwinn R,
Louwen F,
Doerr HW
J Clin Virol
2011 Aug;51(4):285-8.
doi: 10.1016/j.jcv.2011.05.007.
PMID: 21641276
Prognosis
Gallo LG,
Martinez-Cajas J,
Peixoto HM,
Pereira ACEDS,
Carter JE,
McKeown S,
Schaub B,
Ventura CV,
de França GVA,
Pomar L,
Ventura LO,
Nerurkar VR,
de Araújo WN,
Velez MP
BMC Public Health
2020 Jun 1;20(1):827.
doi: 10.1186/s12889-020-08946-5.
PMID: 32487247Free PMC Article
Ferreira CR,
Goorden SMI,
Soldatos A,
Byers HM,
Ghauharali-van der Vlugt JMM,
Beers-Stet FS,
Groden C,
van Karnebeek CD,
Gahl WA,
Vaz FM,
Jiang X,
Vernon HJ
Mol Genet Metab
2018 Jul;124(3):204-209.
Epub 2018 May 7
doi: 10.1016/j.ymgme.2018.05.001.
PMID: 29789193Free PMC Article
Swartz JM,
Akinci A,
Andrew SF,
Siğirci A,
Hirschhorn JN,
Rosenfeld RG,
Dauber A,
Hwa V
Horm Res Paediatr
2014;82(5):344-52.
Epub 2014 Nov 1
doi: 10.1159/000368192.
PMID: 25376329Free PMC Article
Ellaway CJ,
Ho G,
Bettella E,
Knapman A,
Collins F,
Hackett A,
McKenzie F,
Darmanian A,
Peters GB,
Fagan K,
Christodoulou J
Eur J Hum Genet
2013 May;21(5):522-7.
Epub 2012 Sep 12
doi: 10.1038/ejhg.2012.208.
PMID: 22968132Free PMC Article
Clinical prediction guides
Zaqout S,
Mannaa A,
Klein O,
Krajewski A,
Klose J,
Luise-Becker L,
Elsabagh A,
Ferih K,
Kraemer N,
Ravindran E,
Makridis K,
Kaindl AM
Ann Hum Genet
2023 Mar;87(1-2):50-62.
Epub 2022 Nov 29
doi: 10.1111/ahg.12489.
PMID: 36448252
van Gemert LA,
Leen WG,
Draaisma JM,
Roeleveld N,
Willemsen MA
Eur J Paediatr Neurol
2022 May;38:73-76.
Epub 2022 Apr 27
doi: 10.1016/j.ejpn.2022.04.005.
PMID: 35500464
Yadav N,
Kirola L,
Geetha TS,
Mittal K,
Kadandale J,
Yogev Y,
Birk OS,
Gupta N,
Balakrishnan P,
Jana M,
Gupta M,
Kabra M,
Thelma BK
Ann Hum Genet
2022 Sep;86(5):245-256.
Epub 2022 Apr 22
doi: 10.1111/ahg.12469.
PMID: 35451063
Fichtman B,
Harel T,
Biran N,
Zagairy F,
Applegate CD,
Salzberg Y,
Gilboa T,
Salah S,
Shaag A,
Simanovsky N,
Ayoubieh H,
Sobreira N,
Punzi G,
Pierri CL,
Hamosh A,
Elpeleg O,
Harel A,
Edvardson S
Am J Hum Genet
2019 Jul 3;105(1):48-64.
Epub 2019 Jun 6
doi: 10.1016/j.ajhg.2019.05.003.
PMID: 31178128Free PMC Article
Swartz JM,
Akinci A,
Andrew SF,
Siğirci A,
Hirschhorn JN,
Rosenfeld RG,
Dauber A,
Hwa V
Horm Res Paediatr
2014;82(5):344-52.
Epub 2014 Nov 1
doi: 10.1159/000368192.
PMID: 25376329Free PMC Article