Etiology
Vong KI,
Lee S,
Au KS,
Crowley TB,
Capra V,
Martino J,
Haller M,
Araújo C,
Machado HR,
George R,
Gerding B,
James KN,
Stanley V,
Jiang N,
Alu K,
Meave N,
Nidhiry AS,
Jiwani F,
Tang I,
Nisal A,
Jhamb I,
Patel A,
Patel A,
McEvoy-Venneri J,
Barrows C,
Shen C,
Ha YJ,
Howarth R,
Strain M,
Ashley-Koch AE,
Azam M,
Mumtaz S,
Bot GM,
Finnell RH,
Kibar Z,
Marwan AI,
Melikishvili G,
Meltzer HS,
Mutchinick OM,
Stevenson DA,
Mroczkowski HJ,
Ostrander B,
Schindewolf E,
Moldenhauer J,
Zackai EH,
Emanuel BS,
Garcia-Minaur S,
Nowakowska BA,
Stevenson RE,
Zaki MS,
Northrup H,
McNamara HK,
Aldinger KA,
Phelps IG,
Deng M,
Glass IA;
Spina Bifida Sequencing Consortium‡,
Morrow B,
McDonald-McGinn DM,
Sanna-Cherchi S,
Lamb DJ,
Gleeson JG
Science
2024 May 3;384(6695):584-590.
Epub 2024 May 2
doi: 10.1126/science.adl1624.
PMID: 38696583
Linders CC,
van Eeghen AM,
Zinkstok JR,
van den Boogaard MJ,
Boot E
Genes (Basel)
2023 Jul 25;14(8)
doi: 10.3390/genes14081514.
PMID: 37628566Free PMC Article
Blagowidow N,
Nowakowska B,
Schindewolf E,
Grati FR,
Putotto C,
Breckpot J,
Swillen A,
Crowley TB,
Loo JCY,
Lairson LA,
Óskarsdóttir S,
Boot E,
Garcia-Minaur S,
Cristina Digilio M,
Marino B,
Coleman B,
Moldenhauer JS,
Bassett AS,
McDonald-McGinn DM
Genes (Basel)
2023 Jan 6;14(1)
doi: 10.3390/genes14010160.
PMID: 36672900Free PMC Article
Ng HK,
Li KK,
Chung NY,
Chan JY,
Poon MF,
Wong QH,
Kwan JS,
Poon WS,
Chen H,
Chan DT,
Shi ZF,
Mao Y
Brain Pathol
2023 May;33(3):e13120.
Epub 2022 Sep 27
doi: 10.1111/bpa.13120.
PMID: 36167400Free PMC Article
Namavar Y,
Duineveld DJ,
Both GIA,
Fiksinski AM,
Vorstman JAS,
Verhoeven-Duif NM,
Zinkstok JR
Am J Med Genet B Neuropsychiatr Genet
2021 Jul;186(5):289-317.
Epub 2021 Jul 24
doi: 10.1002/ajmg.b.32869.
PMID: 34302426
Diagnosis
Blagowidow N,
Nowakowska B,
Schindewolf E,
Grati FR,
Putotto C,
Breckpot J,
Swillen A,
Crowley TB,
Loo JCY,
Lairson LA,
Óskarsdóttir S,
Boot E,
Garcia-Minaur S,
Cristina Digilio M,
Marino B,
Coleman B,
Moldenhauer JS,
Bassett AS,
McDonald-McGinn DM
Genes (Basel)
2023 Jan 6;14(1)
doi: 10.3390/genes14010160.
PMID: 36672900Free PMC Article
Jesus-Ribeiro J,
Ribeiro IP,
Pires LM,
Paiva P,
Simões S,
Pereira C,
Robalo C,
Pereira R,
Sales F,
Rebelo O,
Santana I,
Freire A,
Barbosa Melo J
Cytogenet Genome Res
2022;162(1-2):28-33.
Epub 2022 Apr 27
doi: 10.1159/000524130.
PMID: 35477180
Shih AR,
Chebib I,
Deshpande V,
Dickson BC,
Iafrate AJ,
Nielsen GP
Genes Chromosomes Cancer
2019 Nov;58(11):804-808.
Epub 2019 Jun 13
doi: 10.1002/gcc.22782.
PMID: 31135077
Fung WL,
Butcher NJ,
Costain G,
Andrade DM,
Boot E,
Chow EW,
Chung B,
Cytrynbaum C,
Faghfoury H,
Fishman L,
García-Miñaúr S,
George S,
Lang AE,
Repetto G,
Shugar A,
Silversides C,
Swillen A,
van Amelsvoort T,
McDonald-McGinn DM,
Bassett AS
Genet Med
2015 Aug;17(8):599-609.
Epub 2015 Jan 8
doi: 10.1038/gim.2014.175.
PMID: 25569435Free PMC Article
Emanuel BS
Dev Disabil Res Rev
2008;14(1):11-8.
doi: 10.1002/ddrr.3.
PMID: 18636632Free PMC Article
Therapy
Vong KI,
Lee S,
Au KS,
Crowley TB,
Capra V,
Martino J,
Haller M,
Araújo C,
Machado HR,
George R,
Gerding B,
James KN,
Stanley V,
Jiang N,
Alu K,
Meave N,
Nidhiry AS,
Jiwani F,
Tang I,
Nisal A,
Jhamb I,
Patel A,
Patel A,
McEvoy-Venneri J,
Barrows C,
Shen C,
Ha YJ,
Howarth R,
Strain M,
Ashley-Koch AE,
Azam M,
Mumtaz S,
Bot GM,
Finnell RH,
Kibar Z,
Marwan AI,
Melikishvili G,
Meltzer HS,
Mutchinick OM,
Stevenson DA,
Mroczkowski HJ,
Ostrander B,
Schindewolf E,
Moldenhauer J,
Zackai EH,
Emanuel BS,
Garcia-Minaur S,
Nowakowska BA,
Stevenson RE,
Zaki MS,
Northrup H,
McNamara HK,
Aldinger KA,
Phelps IG,
Deng M,
Glass IA;
Spina Bifida Sequencing Consortium‡,
Morrow B,
McDonald-McGinn DM,
Sanna-Cherchi S,
Lamb DJ,
Gleeson JG
Science
2024 May 3;384(6695):584-590.
Epub 2024 May 2
doi: 10.1126/science.adl1624.
PMID: 38696583
Bender BU,
Gutsche M,
Gläsker S,
Müller B,
Kirste G,
Eng C,
Neumann HP
J Clin Endocrinol Metab
2000 Dec;85(12):4568-74.
doi: 10.1210/jcem.85.12.7015.
PMID: 11134110
Murthy SS,
Testa JR
J Cell Physiol
1999 Aug;180(2):150-7.
doi: 10.1002/(SICI)1097-4652(199908)180:2<150::AID-JCP2>3.0.CO;2-H.
PMID: 10395284
Parry DM,
MacCollin MM,
Kaiser-Kupfer MI,
Pulaski K,
Nicholson HS,
Bolesta M,
Eldridge R,
Gusella JF
Am J Hum Genet
1996 Sep;59(3):529-39.
PMID: 8751853Free PMC Article
Khosla S,
Patel VM,
Hay ID,
Schaid DJ,
Grant CS,
van Heerden JA,
Thibodeau SN
J Clin Invest
1991 May;87(5):1691-9.
doi: 10.1172/JCI115186.
PMID: 2022740Free PMC Article
Prognosis
Ng HK,
Li KK,
Chung NY,
Chan JY,
Poon MF,
Wong QH,
Kwan JS,
Poon WS,
Chen H,
Chan DT,
Shi ZF,
Mao Y
Brain Pathol
2023 May;33(3):e13120.
Epub 2022 Sep 27
doi: 10.1111/bpa.13120.
PMID: 36167400Free PMC Article
Janovitz T,
Williamson DFK,
Wong KS,
Dong F,
Barletta JA
Histopathology
2021 Oct;79(4):491-498.
Epub 2021 Jun 15
doi: 10.1111/his.14374.
PMID: 33783022
Shih AR,
Chebib I,
Deshpande V,
Dickson BC,
Iafrate AJ,
Nielsen GP
Genes Chromosomes Cancer
2019 Nov;58(11):804-808.
Epub 2019 Jun 13
doi: 10.1002/gcc.22782.
PMID: 31135077
Lin A,
Ching CRK,
Vajdi A,
Sun D,
Jonas RK,
Jalbrzikowski M,
Kushan-Wells L,
Pacheco Hansen L,
Krikorian E,
Gutman B,
Dokoru D,
Helleman G,
Thompson PM,
Bearden CE
J Neurosci
2017 Jun 28;37(26):6183-6199.
Epub 2017 May 23
doi: 10.1523/JNEUROSCI.3759-16.2017.
PMID: 28536274Free PMC Article
Tomlinson GE
Front Biosci (Elite Ed)
2012 Jan 1;4(4):1287-92.
doi: 10.2741/459.
PMID: 22201954
Clinical prediction guides
Linders CC,
van Eeghen AM,
Zinkstok JR,
van den Boogaard MJ,
Boot E
Genes (Basel)
2023 Jul 25;14(8)
doi: 10.3390/genes14081514.
PMID: 37628566Free PMC Article
Singh J,
Sharma R,
Shukla N,
Narwal P,
Katiyar A,
Mahajan S,
Sahu S,
Garg A,
Sharma MC,
Suri A,
Sarkar C,
Suri V
J Neurooncol
2023 Jan;161(2):339-356.
Epub 2022 Dec 24
doi: 10.1007/s11060-022-04220-3.
PMID: 36564673
Namavar Y,
Duineveld DJ,
Both GIA,
Fiksinski AM,
Vorstman JAS,
Verhoeven-Duif NM,
Zinkstok JR
Am J Med Genet B Neuropsychiatr Genet
2021 Jul;186(5):289-317.
Epub 2021 Jul 24
doi: 10.1002/ajmg.b.32869.
PMID: 34302426
Och W,
Szmuda T,
Kulbacki K,
Witek K,
Sikorska B,
Zakrzewska M,
Springer J,
Reszeć J,
Parda A,
Liberski PP
Neurol Neurochir Pol
2016 Nov-Dec;50(6):395-402.
Epub 2016 Jul 26
doi: 10.1016/j.pjnns.2016.07.001.
PMID: 27480481
Tomlinson GE
Front Biosci (Elite Ed)
2012 Jan 1;4(4):1287-92.
doi: 10.2741/459.
PMID: 22201954