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Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 2 |
2023 | 1 |
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17.
Am J Hum Genet. 2023.
PMID: 37595579
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.
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A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF.
Stamou M, et al.
J Clin Endocrinol Metab. 2020 Mar 1;105(3):e231-44. doi: 10.1210/clinem/dgz011.
J Clin Endocrinol Metab. 2020.
PMID: 31628846
Free PMC article.
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Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Wang CY, Brand H, Shaw ND, Talkowski ME, Lee JT.
Wang CY, et al.
Genetics. 2019 Oct;213(2):685-703. doi: 10.1534/genetics.119.302600. Epub 2019 Aug 16.
Genetics. 2019.
PMID: 31420322
Free PMC article.
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ.
Werling DM, et al.
Nat Genet. 2018 Apr 26;50(5):727-736. doi: 10.1038/s41588-018-0107-y.
Nat Genet. 2018.
PMID: 29700473
Free PMC article.
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