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31981491,39054328,38992748,34099044,33731968,32926339,39259737,38153584,33935932,36256779,36199823,38058955,35110736,35459094,36648429,36879111,36830629,36533124,35205231,36551423,35977029,34625286,37628598,35995342,35762097,35056323,37762342,34768579,35666111,35074918,37797581,37626134,32152537,34575699,38752176,37381037,34177464,37333267,37098340,36980949,38649753,33110259,33542524,33482199,33424939,33558695,33172208,39280614,39769462,39941308,39122707,40196547,40234546,39441640,39827187,40390287,33965196,37758766,35031607,39838028,39706195,37300435,38619175,37366052,36882501,37245781,39954678,40869952,36681677,40778144,40950053,37820724,40109493,40209105,41053002,41127290,34077496,33970367,39119251,32634676,36445517,32640929,36061363,33077954,36176941,36406755,33081368,34007043,33773394,36252008,38123724,35332073,35462541,36881370,36950377,36778668,35800757,35760976,34880900,34883504,34698552,35832601,32462093,37468985,37658396,37603782,37861890,32209454,34411509,37093598,38822397,38534800,34613766,38665176,37237280,37065891,37372421,33441621,33232306,33238114,38616269,38565598,38977852,38260618,33737384,39788508,39867378,38702431,40078324,37159365,40093153,38997333,38247296,39988938,40305279,33258273,40353881,33319920,37183190,37248276,35236119,34382689,40558535,40642208,39548698,39390582,40581089,39468047,40796696,40987614,40693979,41137892,41193845,39050824,36035754,33972534,36158052,39060028,36448305,33863780,34066025,33753861,33756103,36410474,33679889,38409228,38170320,39152124,33948885,32887689,34021086,36678498,36917980,36640395,35190550,35468861,35741772,36792602,35982160,35813072,35994032,35649373,34773992,35782388,35668055,34786775,35792502,35089335,31963710,37563294,38499656,37205980,37024973,37386098,36991001,37010102,37198333,33206719,33157009,39533986,39419027,37654020,39596051,39301775,40172746,37290907,32877683,32583268,38155610,37582968,40468385,40520101,38996019,40505628,37166201,40643744,40642607,40425010,40790933,34616060,40898018,40943430,40501938,41008370,41160232,41153408,39257288,41220606,41246720,32614901,34091589,32545830,36434256,36323257,38069091,39123267,32566943,32716721,32574564,32938507,33996804,38091988,36183905,34011629,38352654,38248358,39350038,36563679,35237591,36640404,35312124,35907244,35321480,35322200,35970914,34867553,34634037,35813066,35585789,34828306,34672987,34790092,37669379,32344798,37500730,38550987,38562714,34356117,37107561,37012247,37321992,33412999,33225276,39534727,39519104,38443934,39363111,39189429,39632905,39703685,38790065,39677731,33109257,39975161,38001317,39990495,36621967,40060598,38586002,39334436,40206866,39471229,37808765,40048431,38106124,33746731,33308299,38076919,39148034,38244545,34381171,40475427,40501840,40571781,40564138,39708813,34256850,39772748,39887572,40642101,38766206,40536108,40472970,40771847,36653526,40869915,40841582,37392087,40957659,38036792,41264151,40518463,41115806,39431203,33909211,36150388,36106778,32849845,33860439,38273973,36119806,36425354,38127959,36796362,35501408,35351869,35128353,35204992,35550191,36836486,35743672,35868305,35869058,35327467,35581654,35590255,37511534,35764363,35654974,37841836,34903665,34782621,32218568,34145229,34404727,37092728,37268684,34294919,34493297,34313757,34440392,33514394,33519379,33519924,33279929,33612392,33304087,33634770,35688811,38234782,33032641,38850535,39132493,36280734,36824845,38696583,37231097,40035441,33504798,33053355,34023184,34828352,36150908,39711717,39386494,38279041,37207277,38942023,39126614,39993185,40806055,37009120,40894066,40666880,40843696,41142115,36865150,41224997,34093265,32912353,36323681,38010534,36226191,36388132,36163277,38332860,39386704,37965217,33809095,34008862,38233682,33767182,36359385,33704401,31776463,36613611,36909558,35271727,35328799,35512633,35294868,35628965,35914814,35269756,34994928,35063364,35775424,35722549,37649777,32317787,35618886,37788244,34848499,34803610,32353336,38519481,38827984,37223033,36991132,37365244,37371370,33335035,33343624,38818219,34088660,38633780,38324465,36417527,38895440,40307697,39817906,35094443,40419468,34746699,34342000,38460523,40553336,40552535,40492449,40766466,39002500,37824647,40799750,37758944,37365347,35366058,41101354,38926759,32622340,33661101,36280753,32563855,36339838,32717741,36057282,37961520,39131279,32937737,32579114,33875802,36468003,36070311,32951011,33887384,32666205,33772226,38357255,38423574,35501678,35411039,35310097,36782062,35205412,35211042,37815090,35990955,34879283,35887114,34946972,35778412,35011572,32393347,37595579,34903660,34847355,37492102,37506195,32430199,32130906,34148555,34153690,38874331,34525941,38572415,38764027,37280359,34199759,38849897,34259569,37424750,33439542,33189799,33323470,33161257,33557935,33431980,35365720,39807402,39185167,32792264,33479230,34547244,37484202,37181331,38216835,38902926,39858526,39931863,40011607,40374600,39604385,33615640,33340069,35285132,36702997,35396580,39589631,39727191,40050271,38957312,40605340,37454787,35421386,40461847,40015282,38290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Results by year

Year	Number of Results
2019	5
2020	128
2021	238
2022	269
2023	249
2024	231
2025	227

1,238 results

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

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. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.

Buxbaum Grice AS, Sloofman L, Levy T, Walker H, Ganesh G, Rodriguez de Los Santos M, Amini P, Buxbaum JD, Kolevzon A, Kostic A, Breen MS. Buxbaum Grice AS, et al. Transl Psychiatry. 2024 Jul 25;14(1):307. doi: 10.1038/s41398-024-03005-8. Transl Psychiatry. 2024. PMID: 39054328 Free PMC article.

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.

Zhang X, Theotokis PI, Li N; SHaRe Investigators; Wright CF, Samocha KE, Whiffin N, Ware JS. Zhang X, et al. Genome Med. 2024 Jul 11;16(1):88. doi: 10.1186/s13073-024-01358-9. Genome Med. 2024. PMID: 38992748 Free PMC article.

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.

Das M, Girirajan S. Das M, et al. Genome Med. 2021 Jun 7;13(1):99. doi: 10.1186/s13073-021-00913-y. Genome Med. 2021. PMID: 34099044 Free PMC article. Review.

Covariance-based sample selection for heterogeneous data: Applications to gene expression and autism risk gene detection.

Lin KZ, Liu H, Roeder K. Lin KZ, et al. J Am Stat Assoc. 2021;116(533):54-67. doi: 10.1080/01621459.2020.1738234. Epub 2020 Apr 13. J Am Stat Assoc. 2021. PMID: 33731968 Free PMC article.

Sex-and Region-Dependent Expression of the Autism-Linked ADNP Correlates with Social- and Speech-Related Genes in the Canary Brain.

Hacohen-Kleiman G, Moaraf S, Kapitansky O, Gozes I. Hacohen-Kleiman G, et al. J Mol Neurosci. 2020 Nov;70(11):1671-1683. doi: 10.1007/s12031-020-01700-x. Epub 2020 Sep 14. J Mol Neurosci. 2020. PMID: 32926339

Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial function.

Ali D, Laighneach A, Corley E, Patlola SR, Mahoney R, Holleran L, McKernan DP, Kelly JP, Corvin AP, Hallahan B, McDonald C, Donohoe G, Morris DW. Ali D, et al. PLoS Genet. 2024 Sep 11;20(9):e1011093. doi: 10.1371/journal.pgen.1011093. eCollection 2024 Sep. PLoS Genet. 2024. PMID: 39259737 Free PMC article.

Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions.

Nahas LD, Datta A, Alsamman AM, Adly MH, Al-Dewik N, Sekaran K, Sasikumar K, Verma K, Doss GPC, Zayed H. Nahas LD, et al. Metab Brain Dis. 2024 Jan;39(1):29-42. doi: 10.1007/s11011-023-01322-3. Epub 2023 Dec 28. Metab Brain Dis. 2024. PMID: 38153584 Free PMC article.

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.

Jangjoo M, Goodman SJ, Choufani S, Trost B, Scherer SW, Kelley E, Ayub M, Nicolson R, Georgiades S, Crosbie J, Schachar R, Anagnostou E, Grunebaum E, Weksberg R. Jangjoo M, et al. Front Neurol. 2021 Apr 16;12:612817. doi: 10.3389/fneur.2021.612817. eCollection 2021. Front Neurol. 2021. PMID: 33935932 Free PMC article.

Delineation of functionally essential protein regions for 242 neurodevelopmental genes.

Iqbal S, Brünger T, Pérez-Palma E, Macnee M, Brunklaus A, Daly MJ, Campbell AJ, Hoksza D, May P, Lal D. Iqbal S, et al. Brain. 2023 Feb 13;146(2):519-533. doi: 10.1093/brain/awac381. Brain. 2023. PMID: 36256779 Free PMC article.

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