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Year Number of Results
2017 2
2018 2
2020 2
2022 2
2023 2
2024 1

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11 results

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Page 1
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Urpa L, Kurki MI, Rahikkala E, Hämäläinen E, Salomaa V, Suvisaari J, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Uusimaa J, Moilanen JS, Körkkö J, Singh T, Kuismin O, Pietiläinen O, Palotie A, Daly MJ. Urpa L, et al. Eur J Hum Genet. 2024 May;32(5):576-583. doi: 10.1038/s41431-024-01581-3. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467730 Free PMC article.
Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages.
Wells MF, Nemesh J, Ghosh S, Mitchell JM, Salick MR, Mello CJ, Meyer D, Pietilainen O, Piccioni F, Guss EJ, Raghunathan K, Tegtmeyer M, Hawes D, Neumann A, Worringer KA, Ho D, Kommineni S, Chan K, Peterson BK, Raymond JJ, Gold JT, Siekmann MT, Zuccaro E, Nehme R, Kaykas A, Eggan K, McCarroll SA. Wells MF, et al. Cell Stem Cell. 2023 Mar 2;30(3):312-332.e13. doi: 10.1016/j.stem.2023.01.010. Epub 2023 Feb 15. Cell Stem Cell. 2023. PMID: 36796362 Free PMC article.
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.
Nehme R, Pietiläinen O, Artomov M, Tegtmeyer M, Valakh V, Lehtonen L, Bell C, Singh T, Trehan A, Sherwood J, Manning D, Peirent E, Malik R, Guss EJ, Hawes D, Beccard A, Bara AM, Hazelbaker DZ, Zuccaro E, Genovese G, Loboda AA, Neumann A, Lilliehook C, Kuismin O, Hamalainen E, Kurki M, Hultman CM, Kähler AK, Paulo JA, Ganna A, Madison J, Cohen B, McPhie D, Adolfsson R, Perlis R, Dolmetsch R, Farhi S, McCarroll S, Hyman S, Neale B, Barrett LE, Harper W, Palotie A, Daly M, Eggan K. Nehme R, et al. Nat Commun. 2022 Jun 27;13(1):3690. doi: 10.1038/s41467-022-31436-8. Nat Commun. 2022. PMID: 35760976 Free PMC article.
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hämäläinen E, Pylkäs K, Körkkö J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietiläinen O, Moilanen J, Kuismin O. Rahikkala E, et al. Eur J Hum Genet. 2022 May;30(5):619-627. doi: 10.1038/s41431-022-01046-5. Epub 2022 Jan 28. Eur J Hum Genet. 2022. PMID: 35087184 Free PMC article.
Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium.
Mansolf M, Vreeker A, Reise SP, Freimer NB, Glahn DC, Gur RE, Moore TM, Pato CN, Pato MT, Palotie A, Holm M, Suvisaari J, Partonen T, Kieseppä T, Paunio T, Boks M, Kahn R, Ophoff RA, Bearden CE, Loohuis LO, Teshiba T, deGeorge D, Bilder RM; GROUP Investigators; WGSPD Consortium. Mansolf M, et al. Educ Psychol Meas. 2020 Oct;80(5):870-909. doi: 10.1177/0013164419897307. Epub 2020 Feb 5. Educ Psychol Meas. 2020. PMID: 32855563 Free PMC article.
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission.
Nehme R, Zuccaro E, Ghosh SD, Li C, Sherwood JL, Pietilainen O, Barrett LE, Limone F, Worringer KA, Kommineni S, Zang Y, Cacchiarelli D, Meissner A, Adolfsson R, Haggarty S, Madison J, Muller M, Arlotta P, Fu Z, Feng G, Eggan K. Nehme R, et al. Cell Rep. 2018 May 22;23(8):2509-2523. doi: 10.1016/j.celrep.2018.04.066. Cell Rep. 2018. PMID: 29791859 Free PMC article.
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S; Whole Genome Sequencing for Psychiatric Disorders (WGSPD); Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. Sanders SJ, et al. Nat Neurosci. 2017 Dec;20(12):1661-1668. doi: 10.1038/s41593-017-0017-9. Nat Neurosci. 2017. PMID: 29184211 Free PMC article. Review.
11 results