Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB (2019) Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet 105:606–615. https://doi.org/10.1016/j.ajhg.2019.07.019
Article CAS PubMed PubMed Central Google Scholar
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J (2022) A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet 54:1284–1292. https://doi.org/10.1038/s41588-022-01064-5
Article CAS PubMed PubMed Central Google Scholar
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK (2016) Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females. Am J Hum Genet 99:728–734. https://doi.org/10.1016/j.ajhg.2016.06.028
Article CAS PubMed PubMed Central Google Scholar
Bakur K, Hamid H, Alhaddad B, Alfadhel M, Alhashem A, Eyaid W, Alanzi T, Al Mutairi F, Alswaid A, Ababneh F, Al Ghamdi M, Mohamed S, Alaskar A, Alqahtani F, Alzaidan H, Al-Owain M, Faqeih EA, Mushiba AM, Alanazi R, Almoallem B, Alsaleh NS, Al Tala S, Alshammari M, Turkistani A, Gosadi G, Hakami F, Alobaid F, Al Rukban H, Alfaidi A, Ba-Abbad R, Almuqbil MA, Al-Boukai A, Alamri AS, Alshehri A, Sulaiman RA, Almontasheri A, Danish E, AlSagheir A, Aljeaid D, Al-Awam BS, Shawli A, Al-Otaibi M, Majdali WS, Azher ZA, Almannai M, Baalawi W, AlAbdi L, Benoukraf T, Alkuraya FS, Group SAG (2025) Adult genomic medicine: lessons from a multisite study of 2700 patients. Genome Med 17:105. https://doi.org/10.1186/s13073-025-01529-2
Article PubMed PubMed Central Google Scholar
Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M (2018) Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome. Am J Hum Genet 103:621–630. https://doi.org/10.1016/j.ajhg.2018.09.001
Article CAS PubMed PubMed Central Google Scholar
Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, Ekici AB, Sticht H, Sadikovic B, Reis A, Vasileiou G (2024) The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Hum Genet 143:965–978. https://doi.org/10.1007/s00439-024-02688-9
Article CAS PubMed PubMed Central Google Scholar
Chen P, Liu Z, Zhang Q, Lin D, Song L, Liu J, Jiao HF, Lai X, Zou S, Wang S, Zhou T, Li BM, Zhu L, Pan BX, Fei E (2022) DSCAM deficiency leads to premature spine maturation and autism-like behaviors. J Neurosci 42:532–551. https://doi.org/10.1523/JNEUROSCI.1003-21.2021
Article CAS PubMed Google Scholar
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, O’Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ, Consortium GAD (2024) A genomic mutational constraint map using variation in 76,156 human genomes. Nature 625:92–100. https://doi.org/10.1038/s41586-023-06045-0
Article CAS PubMed Google Scholar
Cingolani P, Platts A, Wang leL, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly 6:80–92. https://doi.org/10.4161/fly.19695. (19695 [pii])
Article CAS PubMed PubMed Central Google Scholar
Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH (2023) The contributions of rare inherited and polygenic risk to ASD in multiplex families. Proc Natl Acad Sci U S A 120:e2215632120. https://doi.org/10.1073/pnas.2215632120
Article CAS PubMed PubMed Central Google Scholar
Cunningham JL, Frankovich J, Dubin RA, Pedrosa E, Baykara RN, Schlenk NC, Maqbool SB, Dolstra H, Marino J, Edinger J, Shea JM, Laje G, Swagemakers SMA, Sinnadurai S, Zhang ZD, Lin JR, van der Spek PJ, Lachman HM (2024) Ultrarare variants in DNA damage repair genes in pediatric acute-onset neuropsychiatric syndrome or acute behavioral regression in neurodevelopmental disorders. Dev Neurosci. https://doi.org/10.1159/000541908
Article PubMed PubMed Central Google Scholar
de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F (2019) Mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurol Genet 5:e306. https://doi.org/10.1212/NXG.0000000000000306
Article CAS PubMed PubMed Central Google Scholar
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimaki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Study DDD, Homozygosity Mapping Collaborative for A, Consortium UK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515:209–215. https://doi.org/10.1038/nature13772
Article CAS PubMed PubMed Central Google Scholar
Dougherty JD, Marrus N, Maloney SE, Yip B, Sandin S, Turner TN, Selmanovic D, Kroll KL, Gutmann DH, Constantino JN, Weiss LA (2022) Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder? Neuron 110:3243–3262. https://doi.org/10.1016/j.neuron.2022.06.020
Article CAS PubMed PubMed Central Google Scholar
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, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME, (ASC) ASC, (Broad-CCDG) BICfCDG, Consortium i-B (2022) Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet 54:1320–1331. https://doi.org/10.1038/s41588-022-01104-0
Article CAS PubMed PubMed Central Google Scholar
Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK (2014) Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Hum Mutat 35:41–44. https://doi.org/10.1002/humu.22453
Article CAS PubMed Google Scholar
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347. https://doi.org/10.1038/nature13394. (nature13394 [pii])
Article CAS PubMed Google Scholar
Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, Rehm HL, MacArthur DG, O’Donnell-Luria A, Consortium GAD (2022) Variant interpretation using population databases: lessons from gnomAD. Hum Mutat 43:1012–1030. https://doi.org/10.1002/humu.24309
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y et al (2024) Germline mutations in a G protein identify signaling cross-talk in T cells. Science 385:eadd8947. https://doi.org/10.1126/science.add8947
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