Etiology
Chang TC,
Chen W,
Qu C,
Cheng Z,
Hedges D,
Elsayed A,
Pounds SB,
Shago M,
Rabin KR,
Raetz EA,
Devidas M,
Cheng C,
Angiolillo A,
Baviskar P,
Borowitz M,
Burke MJ,
Carroll A,
Carroll WL,
Chen IM,
Harvey R,
Heerema N,
Iacobucci I,
Wang JR,
Jeha S,
Larsen E,
Mattano L,
Maloney K,
Pui CH,
Ramirez NC,
Salzer W,
Willman C,
Winick N,
Wood B,
Hunger SP,
Wu G,
Mullighan CG,
Loh ML
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2024 Oct 10;42(29):3491-3503.
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Seckin S,
Forman EJ
Curr Opin Obstet Gynecol
2023 Jun 1;35(3):216-223.
Epub 2023 Mar 20
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Zhao Y,
Aldoss I,
Qu C,
Crawford JC,
Gu Z,
Allen EK,
Zamora AE,
Alexander TB,
Wang J,
Goto H,
Imamura T,
Akahane K,
Marcucci G,
Stein AS,
Bhatia R,
Thomas PG,
Forman SJ,
Mullighan CG,
Roberts KG
Blood
2021 Jan 28;137(4):471-484.
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Leaver M,
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Hum Reprod Update
2020 Jan 1;26(1):16-42.
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Kato M,
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Pediatr Int
2018 Jan;60(1):4-12.
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Diagnosis
Chang TC,
Chen W,
Qu C,
Cheng Z,
Hedges D,
Elsayed A,
Pounds SB,
Shago M,
Rabin KR,
Raetz EA,
Devidas M,
Cheng C,
Angiolillo A,
Baviskar P,
Borowitz M,
Burke MJ,
Carroll A,
Carroll WL,
Chen IM,
Harvey R,
Heerema N,
Iacobucci I,
Wang JR,
Jeha S,
Larsen E,
Mattano L,
Maloney K,
Pui CH,
Ramirez NC,
Salzer W,
Willman C,
Winick N,
Wood B,
Hunger SP,
Wu G,
Mullighan CG,
Loh ML
J Clin Oncol
2024 Oct 10;42(29):3491-3503.
Epub 2024 Aug 9
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Shah M,
Frydendahl A,
Halmos D,
Khamnei CC,
Øgaard N,
Rajagopalan S,
Arora A,
Deshpande A,
Hooper WF,
Quentin J,
Bass J,
Zhang M,
Langanay T,
Andersen L,
Steinsnyder Z,
Liao W,
Rasmussen MH,
Henriksen TV,
Jensen SØ,
Nors J,
Therkildsen C,
Sotelo J,
Brand R,
Schiffman JS,
Shah RH,
Cheng AP,
Maher C,
Spain L,
Krause K,
Frederick DT,
den Brok W,
Lohrisch C,
Shenkier T,
Simmons C,
Villa D,
Mungall AJ,
Moore R,
Zaikova E,
Cerda V,
Kong E,
Lai D,
Malbari MS,
Marton M,
Manaa D,
Winterkorn L,
Gelmon K,
Callahan MK,
Boland G,
Potenski C,
Wolchok JD,
Saxena A,
Turajlic S,
Imielinski M,
Berger MF,
Aparicio S,
Altorki NK,
Postow MA,
Robine N,
Andersen CL,
Landau DA
Nat Med
2024 Jun;30(6):1655-1666.
Epub 2024 Jun 14
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Rubio C,
Navarro-Sánchez L,
García-Pascual CM,
Ocali O,
Cimadomo D,
Venier W,
Barroso G,
Kopcow L,
Bahçeci M,
Kulmann MIR,
López L,
De la Fuente E,
Navarro R,
Valbuena D,
Sakkas D,
Rienzi L,
Simón C
Am J Obstet Gynecol
2020 Nov;223(5):751.e1-751.e13.
Epub 2020 May 26
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Leaver M,
Wells D
Hum Reprod Update
2020 Jan 1;26(1):16-42.
doi: 10.1093/humupd/dmz033.
PMID: 31774124
Kato M,
Manabe A
Pediatr Int
2018 Jan;60(1):4-12.
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PMID: 29143423
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
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PMID: 38696583
Cimadomo D,
Rienzi L,
Conforti A,
Forman E,
Canosa S,
Innocenti F,
Poli M,
Hynes J,
Gemmell L,
Vaiarelli A,
Alviggi C,
Ubaldi FM,
Capalbo A
Hum Reprod Update
2023 Sep 5;29(5):570-633.
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PMID: 37192834
Zhao Y,
Aldoss I,
Qu C,
Crawford JC,
Gu Z,
Allen EK,
Zamora AE,
Alexander TB,
Wang J,
Goto H,
Imamura T,
Akahane K,
Marcucci G,
Stein AS,
Bhatia R,
Thomas PG,
Forman SJ,
Mullighan CG,
Roberts KG
Blood
2021 Jan 28;137(4):471-484.
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PMID: 32881995Free PMC Article
Kato M,
Manabe A
Pediatr Int
2018 Jan;60(1):4-12.
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PMID: 29143423
Tarlatzis BC,
Zepiridis L
Ann N Y Acad Sci
2003 Nov;997:93-104.
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PMID: 14644814
Prognosis
Cimadomo D,
Rienzi L,
Conforti A,
Forman E,
Canosa S,
Innocenti F,
Poli M,
Hynes J,
Gemmell L,
Vaiarelli A,
Alviggi C,
Ubaldi FM,
Capalbo A
Hum Reprod Update
2023 Sep 5;29(5):570-633.
doi: 10.1093/humupd/dmad010.
PMID: 37192834
Yang L,
Wei Z,
Chen X,
Hu L,
Peng X,
Wang J,
Lu C,
Kong Y,
Dong X,
Ni Q,
Lu Y,
Wu B,
Wang H,
Meirelles K,
Tian X,
Zhang J,
Chang F,
Liu L,
Li C,
You W,
Cheng G,
Wang L,
Cao Y,
Chen C,
Fang P,
Tang S,
Zhou W
Clin Genet
2022 Jan;101(1):101-109.
Epub 2021 Oct 25
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PMID: 34671977
Zhao Y,
Aldoss I,
Qu C,
Crawford JC,
Gu Z,
Allen EK,
Zamora AE,
Alexander TB,
Wang J,
Goto H,
Imamura T,
Akahane K,
Marcucci G,
Stein AS,
Bhatia R,
Thomas PG,
Forman SJ,
Mullighan CG,
Roberts KG
Blood
2021 Jan 28;137(4):471-484.
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PMID: 32881995Free PMC Article
Tarlatzis BC,
Zepiridis L
Ann N Y Acad Sci
2003 Nov;997:93-104.
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PMID: 14644814
Oscier DG,
Gardiner AC
Best Pract Res Clin Haematol
2001 Sep;14(3):609-30.
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Cimadomo D,
Rienzi L,
Conforti A,
Forman E,
Canosa S,
Innocenti F,
Poli M,
Hynes J,
Gemmell L,
Vaiarelli A,
Alviggi C,
Ubaldi FM,
Capalbo A
Hum Reprod Update
2023 Sep 5;29(5):570-633.
doi: 10.1093/humupd/dmad010.
PMID: 37192834
Wallace A,
Krishna Y,
Coupland SE,
Heimann H,
Diafas A,
Hussain RN
Ophthalmology
2023 Oct;130(10):1046-1052.
Epub 2023 May 13
doi: 10.1016/j.ophtha.2023.05.009.
PMID: 37182744
Yang L,
Wei Z,
Chen X,
Hu L,
Peng X,
Wang J,
Lu C,
Kong Y,
Dong X,
Ni Q,
Lu Y,
Wu B,
Wang H,
Meirelles K,
Tian X,
Zhang J,
Chang F,
Liu L,
Li C,
You W,
Cheng G,
Wang L,
Cao Y,
Chen C,
Fang P,
Tang S,
Zhou W
Clin Genet
2022 Jan;101(1):101-109.
Epub 2021 Oct 25
doi: 10.1111/cge.14075.
PMID: 34671977
Zhao Y,
Aldoss I,
Qu C,
Crawford JC,
Gu Z,
Allen EK,
Zamora AE,
Alexander TB,
Wang J,
Goto H,
Imamura T,
Akahane K,
Marcucci G,
Stein AS,
Bhatia R,
Thomas PG,
Forman SJ,
Mullighan CG,
Roberts KG
Blood
2021 Jan 28;137(4):471-484.
doi: 10.1182/blood.2020006287.
PMID: 32881995Free PMC Article
Rubio C,
Navarro-Sánchez L,
García-Pascual CM,
Ocali O,
Cimadomo D,
Venier W,
Barroso G,
Kopcow L,
Bahçeci M,
Kulmann MIR,
López L,
De la Fuente E,
Navarro R,
Valbuena D,
Sakkas D,
Rienzi L,
Simón C
Am J Obstet Gynecol
2020 Nov;223(5):751.e1-751.e13.
Epub 2020 May 26
doi: 10.1016/j.ajog.2020.04.035.
PMID: 32470458