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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2008 1
2013 3
2014 1
2015 2
2016 1
2018 3
2019 3
2020 1
2021 3
2022 1
2023 4
2024 0

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23 results

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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism.
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, Lehtimäki 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, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; 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. De Rubeis S, et al. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ, Schot R, Krusy N, Wiegmann K, Utermöhlen O, Mulder MT, den Hoedt S, Yoon G, Deshwar AR, Kresge C, Pletcher B, van Mook M, Ferreira MS, Poot RA, Slotman JA, Kremers GJ, Ahmad A, Albash B, Bastaki L, Marafi D, Dekker J, van Ham TJ, Nguyen L, Mancini GMS. Smits DJ, et al. Among authors: bastaki l. Brain. 2023 Aug 1;146(8):3528-3541. doi: 10.1093/brain/awad033. Brain. 2023. PMID: 36732302 Free PMC article.
[When all roads lead to Africa…].
Urtizberea JA, Alrohaif H, Gouda SA, Bastaki L. Urtizberea JA, et al. Among authors: bastaki l. Med Sci (Paris). 2019 Nov;35 Hors série n° 2:15-17. doi: 10.1051/medsci/2019237. Epub 2019 Dec 20. Med Sci (Paris). 2019. PMID: 31859625 Free article. French.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Among authors: bastaki l. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C. Haag N, et al. Among authors: bastaki l. Eur J Hum Genet. 2021 Nov;29(11):1663-1668. doi: 10.1038/s41431-021-00943-5. Epub 2021 Aug 20. Eur J Hum Genet. 2021. PMID: 34413497 Free PMC article.
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H, Ahmed AA, Ali NM, Alahmad A, Albash B, Elshafie RM, Alkanderi S, Elkazzaz UM, Cyril PX, Abdelrahman RM, Elmonairy AA, Ibrahim SM, Elfeky YME, Sadik DI, Al-Enezi SD, Salloum AM, Girish Y, Al-Ali M, Ramadan DG, Alsafi R, Al-Rushood M, Bastaki L. Alsharhan H, et al. Among authors: bastaki l. Int J Neonatal Screen. 2021 Aug 17;7(3):56. doi: 10.3390/ijns7030056. Int J Neonatal Screen. 2021. PMID: 34449519 Free PMC article.
23 results