Etiology
Fu JM,
Satterstrom FK,
Peng M,
Brand H,
Collins RL,
Dong S,
Wamsley B,
Klei L,
Wang L,
Hao SP,
Stevens CR,
Cusick C,
Babadi M,
Banks E,
Collins B,
Dodge S,
Gabriel SB,
Gauthier L,
Lee SK,
Liang L,
Ljungdahl A,
Mahjani B,
Sloofman L,
Smirnov AN,
Barbosa M,
Betancur C,
Brusco A,
Chung BHY,
Cook EH,
Cuccaro ML,
Domenici E,
Ferrero GB,
Gargus JJ,
Herman GE,
Hertz-Picciotto I,
Maciel P,
Manoach DS,
Passos-Bueno MR,
Persico AM,
Renieri A,
Sutcliffe JS,
Tassone F,
Trabetti E,
Campos G,
Cardaropoli S,
Carli D,
Chan MCY,
Fallerini C,
Giorgio E,
Girardi AC,
Hansen-Kiss E,
Lee SL,
Lintas C,
Ludena Y,
Nguyen R,
Pavinato L,
Pericak-Vance M,
Pessah IN,
Schmidt RJ,
Smith M,
Costa CIS,
Trajkova S,
Wang JYT,
Yu MHC;
Autism Sequencing Consortium (ASC);
Broad Institute Center for Common Disease Genomics (Broad-CCDG);
iPSYCH-BROAD Consortium,
Cutler DJ,
De Rubeis S,
Buxbaum JD,
Daly MJ,
Devlin B,
Roeder K,
Sanders SJ,
Talkowski ME
Nat Genet
2022 Sep;54(9):1320-1331.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01104-0.
PMID: 35982160Free PMC Article
Zhou X,
Feliciano P,
Shu C,
Wang T,
Astrovskaya I,
Hall JB,
Obiajulu JU,
Wright JR,
Murali SC,
Xu SX,
Brueggeman L,
Thomas TR,
Marchenko O,
Fleisch C,
Barns SD,
Snyder LG,
Han B,
Chang TS,
Turner TN,
Harvey WT,
Nishida A,
O'Roak BJ,
Geschwind DH;
SPARK Consortium,
Michaelson JJ,
Volfovsky N,
Eichler EE,
Shen Y,
Chung WK
Nat Genet
2022 Sep;54(9):1305-1319.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01148-2.
PMID: 35982159Free PMC Article
Thapar A,
Rutter M
J Autism Dev Disord
2021 Dec;51(12):4321-4332.
doi: 10.1007/s10803-020-04685-z.
PMID: 32940822Free PMC Article
Satterstrom FK,
Kosmicki JA,
Wang J,
Breen MS,
De Rubeis S,
An JY,
Peng M,
Collins R,
Grove J,
Klei L,
Stevens C,
Reichert J,
Mulhern MS,
Artomov M,
Gerges S,
Sheppard B,
Xu X,
Bhaduri A,
Norman U,
Brand H,
Schwartz G,
Nguyen R,
Guerrero EE,
Dias C;
Autism Sequencing Consortium;
iPSYCH-Broad Consortium,
Betancur C,
Cook EH,
Gallagher L,
Gill M,
Sutcliffe JS,
Thurm A,
Zwick ME,
Børglum AD,
State MW,
Cicek AE,
Talkowski ME,
Cutler DJ,
Devlin B,
Sanders SJ,
Roeder K,
Daly MJ,
Buxbaum JD
Cell
2020 Feb 6;180(3):568-584.e23.
Epub 2020 Jan 23
doi: 10.1016/j.cell.2019.12.036.
PMID: 31981491Free PMC Article
Lai MC,
Lombardo MV,
Baron-Cohen S
Lancet
2014 Mar 8;383(9920):896-910.
Epub 2013 Sep 26
doi: 10.1016/S0140-6736(13)61539-1.
PMID: 24074734
Diagnosis
Boniel S,
Szymańska K,
Śmigiel R,
Szczałuba K
Genes (Basel)
2021 Mar 25;12(4)
doi: 10.3390/genes12040468.
PMID: 33805950Free PMC Article
Thapar A,
Rutter M
J Autism Dev Disord
2021 Dec;51(12):4321-4332.
doi: 10.1007/s10803-020-04685-z.
PMID: 32940822Free PMC Article
Scheffer IE,
Nabbout R
Epilepsia
2019 Dec;60 Suppl 3:S17-S24.
doi: 10.1111/epi.16386.
PMID: 31904117
Marucci S,
Ragione LD,
De Iaco G,
Mococci T,
Vicini M,
Guastamacchia E,
Triggiani V
Endocr Metab Immune Disord Drug Targets
2018;18(4):316-324.
doi: 10.2174/1871530318666180213111637.
PMID: 29437020
Lai MC,
Lombardo MV,
Baron-Cohen S
Lancet
2014 Mar 8;383(9920):896-910.
Epub 2013 Sep 26
doi: 10.1016/S0140-6736(13)61539-1.
PMID: 24074734
Therapy
Specchio N,
Nabbout R,
Aronica E,
Auvin S,
Benvenuto A,
de Palma L,
Feucht M,
Jansen F,
Kotulska K,
Sarnat H,
Lagae L,
Jozwiak S,
Curatolo P
Eur J Paediatr Neurol
2023 Nov;47:25-34.
Epub 2023 Aug 30
doi: 10.1016/j.ejpn.2023.08.005.
PMID: 37669572
Neul JL,
Percy AK,
Benke TA,
Berry-Kravis EM,
Glaze DG,
Marsh ED,
Lin T,
Stankovic S,
Bishop KM,
Youakim JM
Nat Med
2023 Jun;29(6):1468-1475.
Epub 2023 Jun 8
doi: 10.1038/s41591-023-02398-1.
PMID: 37291210Free PMC Article
Curatolo P,
Specchio N,
Aronica E
Lancet Neurol
2022 Sep;21(9):843-856.
doi: 10.1016/S1474-4422(22)00213-7.
PMID: 35963265
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free PMC Article
Wolff M,
Johannesen KM,
Hedrich UBS,
Masnada S,
Rubboli G,
Gardella E,
Lesca G,
Ville D,
Milh M,
Villard L,
Afenjar A,
Chantot-Bastaraud S,
Mignot C,
Lardennois C,
Nava C,
Schwarz N,
Gérard M,
Perrin L,
Doummar D,
Auvin S,
Miranda MJ,
Hempel M,
Brilstra E,
Knoers N,
Verbeek N,
van Kempen M,
Braun KP,
Mancini G,
Biskup S,
Hörtnagel K,
Döcker M,
Bast T,
Loddenkemper T,
Wong-Kisiel L,
Baumeister FM,
Fazeli W,
Striano P,
Dilena R,
Fontana E,
Zara F,
Kurlemann G,
Klepper J,
Thoene JG,
Arndt DH,
Deconinck N,
Schmitt-Mechelke T,
Maier O,
Muhle H,
Wical B,
Finetti C,
Brückner R,
Pietz J,
Golla G,
Jillella D,
Linnet KM,
Charles P,
Moog U,
Õiglane-Shlik E,
Mantovani JF,
Park K,
Deprez M,
Lederer D,
Mary S,
Scalais E,
Selim L,
Van Coster R,
Lagae L,
Nikanorova M,
Hjalgrim H,
Korenke GC,
Trivisano M,
Specchio N,
Ceulemans B,
Dorn T,
Helbig KL,
Hardies K,
Stamberger H,
de Jonghe P,
Weckhuysen S,
Lemke JR,
Krägeloh-Mann I,
Helbig I,
Kluger G,
Lerche H,
Møller RS
Brain
2017 May 1;140(5):1316-1336.
doi: 10.1093/brain/awx054.
PMID: 28379373
Prognosis
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Jaganathan K,
Kyriazopoulou Panagiotopoulou S,
McRae JF,
Darbandi SF,
Knowles D,
Li YI,
Kosmicki JA,
Arbelaez J,
Cui W,
Schwartz GB,
Chow ED,
Kanterakis E,
Gao H,
Kia A,
Batzoglou S,
Sanders SJ,
Farh KK
Cell
2019 Jan 24;176(3):535-548.e24.
Epub 2019 Jan 17
doi: 10.1016/j.cell.2018.12.015.
PMID: 30661751
Marucci S,
Ragione LD,
De Iaco G,
Mococci T,
Vicini M,
Guastamacchia E,
Triggiani V
Endocr Metab Immune Disord Drug Targets
2018;18(4):316-324.
doi: 10.2174/1871530318666180213111637.
PMID: 29437020
Lai MC,
Lombardo MV,
Baron-Cohen S
Lancet
2014 Mar 8;383(9920):896-910.
Epub 2013 Sep 26
doi: 10.1016/S0140-6736(13)61539-1.
PMID: 24074734
Thapar A,
Cooper M,
Eyre O,
Langley K
J Child Psychol Psychiatry
2013 Jan;54(1):3-16.
Epub 2012 Sep 11
doi: 10.1111/j.1469-7610.2012.02611.x.
PMID: 22963644Free PMC Article
Clinical prediction guides
Trost B,
Thiruvahindrapuram B,
Chan AJS,
Engchuan W,
Higginbotham EJ,
Howe JL,
Loureiro LO,
Reuter MS,
Roshandel D,
Whitney J,
Zarrei M,
Bookman M,
Somerville C,
Shaath R,
Abdi M,
Aliyev E,
Patel RV,
Nalpathamkalam T,
Pellecchia G,
Hamdan O,
Kaur G,
Wang Z,
MacDonald JR,
Wei J,
Sung WWL,
Lamoureux S,
Hoang N,
Selvanayagam T,
Deflaux N,
Geng M,
Ghaffari S,
Bates J,
Young EJ,
Ding Q,
Shum C,
D'Abate L,
Bradley CA,
Rutherford A,
Aguda V,
Apresto B,
Chen N,
Desai S,
Du X,
Fong MLY,
Pullenayegum S,
Samler K,
Wang T,
Ho K,
Paton T,
Pereira SL,
Herbrick JA,
Wintle RF,
Fuerth J,
Noppornpitak J,
Ward H,
Magee P,
Al Baz A,
Kajendirarajah U,
Kapadia S,
Vlasblom J,
Valluri M,
Green J,
Seifer V,
Quirbach M,
Rennie O,
Kelley E,
Masjedi N,
Lord C,
Szego MJ,
Zawati MH,
Lang M,
Strug LJ,
Marshall CR,
Costain G,
Calli K,
Iaboni A,
Yusuf A,
Ambrozewicz P,
Gallagher L,
Amaral DG,
Brian J,
Elsabbagh M,
Georgiades S,
Messinger DS,
Ozonoff S,
Sebat J,
Sjaarda C,
Smith IM,
Szatmari P,
Zwaigenbaum L,
Kushki A,
Frazier TW,
Vorstman JAS,
Fakhro KA,
Fernandez BA,
Lewis MES,
Weksberg R,
Fiume M,
Yuen RKC,
Anagnostou E,
Sondheimer N,
Glazer D,
Hartley DM,
Scherer SW
Cell
2022 Nov 10;185(23):4409-4427.e18.
doi: 10.1016/j.cell.2022.10.009.
PMID: 36368308Free PMC Article
Fu JM,
Satterstrom FK,
Peng M,
Brand H,
Collins RL,
Dong S,
Wamsley B,
Klei L,
Wang L,
Hao SP,
Stevens CR,
Cusick C,
Babadi M,
Banks E,
Collins B,
Dodge S,
Gabriel SB,
Gauthier L,
Lee SK,
Liang L,
Ljungdahl A,
Mahjani B,
Sloofman L,
Smirnov AN,
Barbosa M,
Betancur C,
Brusco A,
Chung BHY,
Cook EH,
Cuccaro ML,
Domenici E,
Ferrero GB,
Gargus JJ,
Herman GE,
Hertz-Picciotto I,
Maciel P,
Manoach DS,
Passos-Bueno MR,
Persico AM,
Renieri A,
Sutcliffe JS,
Tassone F,
Trabetti E,
Campos G,
Cardaropoli S,
Carli D,
Chan MCY,
Fallerini C,
Giorgio E,
Girardi AC,
Hansen-Kiss E,
Lee SL,
Lintas C,
Ludena Y,
Nguyen R,
Pavinato L,
Pericak-Vance M,
Pessah IN,
Schmidt RJ,
Smith M,
Costa CIS,
Trajkova S,
Wang JYT,
Yu MHC;
Autism Sequencing Consortium (ASC);
Broad Institute Center for Common Disease Genomics (Broad-CCDG);
iPSYCH-BROAD Consortium,
Cutler DJ,
De Rubeis S,
Buxbaum JD,
Daly MJ,
Devlin B,
Roeder K,
Sanders SJ,
Talkowski ME
Nat Genet
2022 Sep;54(9):1320-1331.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01104-0.
PMID: 35982160Free PMC Article
Jaganathan K,
Kyriazopoulou Panagiotopoulou S,
McRae JF,
Darbandi SF,
Knowles D,
Li YI,
Kosmicki JA,
Arbelaez J,
Cui W,
Schwartz GB,
Chow ED,
Kanterakis E,
Gao H,
Kia A,
Batzoglou S,
Sanders SJ,
Farh KK
Cell
2019 Jan 24;176(3):535-548.e24.
Epub 2019 Jan 17
doi: 10.1016/j.cell.2018.12.015.
PMID: 30661751
Marucci S,
Ragione LD,
De Iaco G,
Mococci T,
Vicini M,
Guastamacchia E,
Triggiani V
Endocr Metab Immune Disord Drug Targets
2018;18(4):316-324.
doi: 10.2174/1871530318666180213111637.
PMID: 29437020
Thapar A,
Cooper M,
Eyre O,
Langley K
J Child Psychol Psychiatry
2013 Jan;54(1):3-16.
Epub 2012 Sep 11
doi: 10.1111/j.1469-7610.2012.02611.x.
PMID: 22963644Free PMC Article