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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
Hum Genet. 2017.
PMID: 28600779
Free PMC article.
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.
Yu TW, et al. Among authors: balkhy s.
Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.
Neuron. 2013.
PMID: 23352163
Free PMC article.
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Identifying autism loci and genes by tracing recent shared ancestry.
Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.
Morrow EM, et al. Among authors: balkhy s.
Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657.
Science. 2008.
PMID: 18621663
Free PMC article.
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A genome-wide linkage and association scan reveals novel loci for autism.
Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium; Daly MJ, Chakravarti A.
Weiss LA, et al.
Nature. 2009 Oct 8;461(7265):802-8. doi: 10.1038/nature08490.
Nature. 2009.
PMID: 19812673
Free PMC article.
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Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism; Nieto M, Walsh CA.
Doan RN, et al. Among authors: balkhy s.
Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22.
Cell. 2016.
PMID: 27667684
Free PMC article.
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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.
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Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
Almatrafi M, Al-Sabban Z, Balkhy S, Abumansour IS.
Almatrafi M, et al. Among authors: balkhy s.
J Autism Dev Disord. 2023 Mar;53(3):1273-1278. doi: 10.1007/s10803-022-05860-0. Epub 2022 Dec 15.
J Autism Dev Disord. 2023.
PMID: 36520361
No abstract available.
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