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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 4 |
2015 | 2 |
2018 | 2 |
2024 | 0 |
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6 results
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Page 1
Quantifying the contribution of recessive coding variation to developmental disorders.
Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.
Science. 2018.
PMID: 30409806
Free PMC article.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC.
Niemi MEK, et al.
Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26.
Nature. 2018.
PMID: 30258228
Free PMC article.
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No expectation to share incidental findings in genomic research.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; Deciphering Developmental Disorders Study.
Middleton A, et al.
Lancet. 2015 Apr 4;385(9975):1289-90. doi: 10.1016/S0140-6736(14)62119-X. Epub 2014 Dec 17.
Lancet. 2015.
PMID: 25529584
No abstract available.
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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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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT.
Chaudhry A, et al.
Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14.
Clin Genet. 2015.
PMID: 25131214
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Finding people who will tell you their thoughts on genomics-recruitment strategies for social sciences research.
Middleton A, Bragin E, Parker M; DDD Study.
Middleton A, et al.
J Community Genet. 2014 Oct;5(4):291-302. doi: 10.1007/s12687-014-0184-2. Epub 2014 Feb 18.
J Community Genet. 2014.
PMID: 24535681
Free PMC article.
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