Etiology
Rautajoki KJ,
Jaatinen S,
Hartewig A,
Tiihonen AM,
Annala M,
Salonen I,
Valkonen M,
Simola V,
Vuorinen EM,
Kivinen A,
Rauhala MJ,
Nurminen R,
Maass KK,
Lahtela SL,
Jukkola A,
Yli-Harja O,
Helén P,
Pajtler KW,
Ruusuvuori P,
Haapasalo J,
Zhang W,
Haapasalo H,
Nykter M
Acta Neuropathol Commun
2023 Nov 6;11(1):176.
doi: 10.1186/s40478-023-01669-9.
PMID: 37932833Free PMC Article
Billingsley KJ,
Ding J,
Jerez PA,
Illarionova A,
Levine K,
Grenn FP,
Makarious MB,
Moore A,
Vitale D,
Reed X,
Hernandez D,
Torkamani A,
Ryten M,
Hardy J;
UK Brain Expression Consortium (UKBEC),
Chia R,
Scholz SW,
Traynor BJ,
Dalgard CL,
Ehrlich DJ,
Tanaka T,
Ferrucci L,
Beach TG,
Serrano GE,
Quinn JP,
Bubb VJ,
Collins RL,
Zhao X,
Walker M,
Pierce-Hoffman E,
Brand H,
Talkowski ME,
Casey B,
Cookson MR,
Markham A,
Nalls MA,
Mahmoud M,
Sedlazeck FJ,
Blauwendraat C,
Gibbs JR,
Singleton AB
Ann Neurol
2023 May;93(5):1012-1022.
Epub 2023 Feb 3
doi: 10.1002/ana.26608.
PMID: 36695634Free PMC Article
Weiner DJ,
Ling E,
Erdin S,
Tai DJC,
Yadav R,
Grove J,
Fu JM,
Nadig A,
Carey CE,
Baya N,
Bybjerg-Grauholm J;
iPSYCH Consortium;
ASD Working Group of the Psychiatric Genomics Consortium;
ADHD Working Group of the Psychiatric Genomics Consortium,
Berretta S,
Macosko EZ,
Sebat J,
O'Connor LJ,
Hougaard DM,
Børglum AD,
Talkowski ME,
McCarroll SA,
Robinson EB
Nat Genet
2022 Nov;54(11):1630-1639.
Epub 2022 Oct 24
doi: 10.1038/s41588-022-01203-y.
PMID: 36280734Free PMC Article
Collins RL,
Glessner JT,
Porcu E,
Lepamets M,
Brandon R,
Lauricella C,
Han L,
Morley T,
Niestroj LM,
Ulirsch J,
Everett S,
Howrigan DP,
Boone PM,
Fu J,
Karczewski KJ,
Kellaris G,
Lowther C,
Lucente D,
Mohajeri K,
Nõukas M,
Nuttle X,
Samocha KE,
Trinh M,
Ullah F,
Võsa U;
Epi25 Consortium;
Estonian Biobank Research Team,
Hurles ME,
Aradhya S,
Davis EE,
Finucane H,
Gusella JF,
Janze A,
Katsanis N,
Matyakhina L,
Neale BM,
Sanders D,
Warren S,
Hodge JC,
Lal D,
Ruderfer DM,
Meck J,
Mägi R,
Esko T,
Reymond A,
Kutalik Z,
Hakonarson H,
Sunyaev S,
Brand H,
Talkowski ME
Cell
2022 Aug 4;185(16):3041-3055.e25.
Epub 2022 Aug 1
doi: 10.1016/j.cell.2022.06.036.
PMID: 35917817Free PMC Article
Witmer C,
Mattingly A,
DʼSouza P,
Thurm A,
Hadigan C
J Pediatr Gastroenterol Nutr
2019 Aug;69(2):e39-e42.
doi: 10.1097/MPG.0000000000002342.
PMID: 30921255Free PMC Article
Diagnosis
Leatham B,
McNall K,
Subramanian HKK,
Jacky L,
Alvarado J,
Yurk D,
Wang M,
Green DC,
Tsongalis GJ,
Rajagopal A,
Schwartz JJ
Mol Oncol
2023 Nov;17(11):2221-2234.
Epub 2023 Oct 4
doi: 10.1002/1878-0261.13523.
PMID: 37714814Free PMC Article
Collins RL,
Glessner JT,
Porcu E,
Lepamets M,
Brandon R,
Lauricella C,
Han L,
Morley T,
Niestroj LM,
Ulirsch J,
Everett S,
Howrigan DP,
Boone PM,
Fu J,
Karczewski KJ,
Kellaris G,
Lowther C,
Lucente D,
Mohajeri K,
Nõukas M,
Nuttle X,
Samocha KE,
Trinh M,
Ullah F,
Võsa U;
Epi25 Consortium;
Estonian Biobank Research Team,
Hurles ME,
Aradhya S,
Davis EE,
Finucane H,
Gusella JF,
Janze A,
Katsanis N,
Matyakhina L,
Neale BM,
Sanders D,
Warren S,
Hodge JC,
Lal D,
Ruderfer DM,
Meck J,
Mägi R,
Esko T,
Reymond A,
Kutalik Z,
Hakonarson H,
Sunyaev S,
Brand H,
Talkowski ME
Cell
2022 Aug 4;185(16):3041-3055.e25.
Epub 2022 Aug 1
doi: 10.1016/j.cell.2022.06.036.
PMID: 35917817Free PMC Article
Cerqua M,
Botti O,
Arigoni M,
Gioelli N,
Serini G,
Calogero R,
Boccaccio C,
Comoglio PM,
Altintas DM
Life Sci Alliance
2022 Oct;5(10)
Epub 2022 May 30
doi: 10.26508/lsa.202201409.
PMID: 35636967Free PMC Article
Tan AC,
Tan DSW
J Clin Oncol
2022 Feb 20;40(6):611-625.
Epub 2022 Jan 5
doi: 10.1200/JCO.21.01626.
PMID: 34985916
Cooley Coleman JA,
Sarasua SM,
Boccuto L,
Moore HW,
Skinner SA,
DeLuca JM
Am J Med Genet A
2021 Dec;185(12):3884-3894.
Epub 2021 Jun 29
doi: 10.1002/ajmg.a.62412.
PMID: 34184825
Therapy
Rautajoki KJ,
Jaatinen S,
Hartewig A,
Tiihonen AM,
Annala M,
Salonen I,
Valkonen M,
Simola V,
Vuorinen EM,
Kivinen A,
Rauhala MJ,
Nurminen R,
Maass KK,
Lahtela SL,
Jukkola A,
Yli-Harja O,
Helén P,
Pajtler KW,
Ruusuvuori P,
Haapasalo J,
Zhang W,
Haapasalo H,
Nykter M
Acta Neuropathol Commun
2023 Nov 6;11(1):176.
doi: 10.1186/s40478-023-01669-9.
PMID: 37932833Free PMC Article
Tan AC,
Tan DSW
J Clin Oncol
2022 Feb 20;40(6):611-625.
Epub 2022 Jan 5
doi: 10.1200/JCO.21.01626.
PMID: 34985916
Niu C,
Chen Z,
Kim KT,
Sun J,
Xue M,
Chen G,
Li S,
Shen Y,
Zhu Z,
Wang X,
Liang J,
Jiang C,
Cong W,
Jin L,
Li X
Autophagy
2019 May;15(5):843-870.
Epub 2019 Jan 27
doi: 10.1080/15548627.2019.1569913.
PMID: 30653446Free PMC Article
Salgia R
Mol Cancer Ther
2017 Apr;16(4):555-565.
doi: 10.1158/1535-7163.MCT-16-0472.
PMID: 28373408
Finisguerra V,
Di Conza G,
Di Matteo M,
Serneels J,
Costa S,
Thompson AA,
Wauters E,
Walmsley S,
Prenen H,
Granot Z,
Casazza A,
Mazzone M
Nature
2015 Jun 18;522(7556):349-53.
Epub 2015 May 18
doi: 10.1038/nature14407.
PMID: 25985180Free PMC Article
Prognosis
Rautajoki KJ,
Jaatinen S,
Hartewig A,
Tiihonen AM,
Annala M,
Salonen I,
Valkonen M,
Simola V,
Vuorinen EM,
Kivinen A,
Rauhala MJ,
Nurminen R,
Maass KK,
Lahtela SL,
Jukkola A,
Yli-Harja O,
Helén P,
Pajtler KW,
Ruusuvuori P,
Haapasalo J,
Zhang W,
Haapasalo H,
Nykter M
Acta Neuropathol Commun
2023 Nov 6;11(1):176.
doi: 10.1186/s40478-023-01669-9.
PMID: 37932833Free PMC Article
Guo Y,
Tian C,
Cheng Z,
Chen R,
Li Y,
Su F,
Shi Y,
Tan H
Neuroendocrinology
2023;113(9):943-956.
Epub 2023 May 12
doi: 10.1159/000530968.
PMID: 37232011Free PMC Article
Wu F,
Yin YY,
Fan WH,
Zhai Y,
Yu MC,
Wang D,
Pan CQ,
Zhao Z,
Li GZ,
Zhang W
EBioMedicine
2023 Jan;87:104410.
Epub 2022 Dec 14
doi: 10.1016/j.ebiom.2022.104410.
PMID: 36525723Free PMC Article
Collins RL,
Glessner JT,
Porcu E,
Lepamets M,
Brandon R,
Lauricella C,
Han L,
Morley T,
Niestroj LM,
Ulirsch J,
Everett S,
Howrigan DP,
Boone PM,
Fu J,
Karczewski KJ,
Kellaris G,
Lowther C,
Lucente D,
Mohajeri K,
Nõukas M,
Nuttle X,
Samocha KE,
Trinh M,
Ullah F,
Võsa U;
Epi25 Consortium;
Estonian Biobank Research Team,
Hurles ME,
Aradhya S,
Davis EE,
Finucane H,
Gusella JF,
Janze A,
Katsanis N,
Matyakhina L,
Neale BM,
Sanders D,
Warren S,
Hodge JC,
Lal D,
Ruderfer DM,
Meck J,
Mägi R,
Esko T,
Reymond A,
Kutalik Z,
Hakonarson H,
Sunyaev S,
Brand H,
Talkowski ME
Cell
2022 Aug 4;185(16):3041-3055.e25.
Epub 2022 Aug 1
doi: 10.1016/j.cell.2022.06.036.
PMID: 35917817Free PMC Article
Tan AC,
Tan DSW
J Clin Oncol
2022 Feb 20;40(6):611-625.
Epub 2022 Jan 5
doi: 10.1200/JCO.21.01626.
PMID: 34985916
Clinical prediction guides
Wu F,
Yin YY,
Fan WH,
Zhai Y,
Yu MC,
Wang D,
Pan CQ,
Zhao Z,
Li GZ,
Zhang W
EBioMedicine
2023 Jan;87:104410.
Epub 2022 Dec 14
doi: 10.1016/j.ebiom.2022.104410.
PMID: 36525723Free PMC Article
Collins RL,
Glessner JT,
Porcu E,
Lepamets M,
Brandon R,
Lauricella C,
Han L,
Morley T,
Niestroj LM,
Ulirsch J,
Everett S,
Howrigan DP,
Boone PM,
Fu J,
Karczewski KJ,
Kellaris G,
Lowther C,
Lucente D,
Mohajeri K,
Nõukas M,
Nuttle X,
Samocha KE,
Trinh M,
Ullah F,
Võsa U;
Epi25 Consortium;
Estonian Biobank Research Team,
Hurles ME,
Aradhya S,
Davis EE,
Finucane H,
Gusella JF,
Janze A,
Katsanis N,
Matyakhina L,
Neale BM,
Sanders D,
Warren S,
Hodge JC,
Lal D,
Ruderfer DM,
Meck J,
Mägi R,
Esko T,
Reymond A,
Kutalik Z,
Hakonarson H,
Sunyaev S,
Brand H,
Talkowski ME
Cell
2022 Aug 4;185(16):3041-3055.e25.
Epub 2022 Aug 1
doi: 10.1016/j.cell.2022.06.036.
PMID: 35917817Free PMC Article
Tan AC,
Tan DSW
J Clin Oncol
2022 Feb 20;40(6):611-625.
Epub 2022 Jan 5
doi: 10.1200/JCO.21.01626.
PMID: 34985916
Niu C,
Chen Z,
Kim KT,
Sun J,
Xue M,
Chen G,
Li S,
Shen Y,
Zhu Z,
Wang X,
Liang J,
Jiang C,
Cong W,
Jin L,
Li X
Autophagy
2019 May;15(5):843-870.
Epub 2019 Jan 27
doi: 10.1080/15548627.2019.1569913.
PMID: 30653446Free PMC Article
Salgia R
Mol Cancer Ther
2017 Apr;16(4):555-565.
doi: 10.1158/1535-7163.MCT-16-0472.
PMID: 28373408