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Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA. Merker JD, et al. Among authors: grove m. Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640241 Free PMC article.
Clinical interpretation and implications of whole-genome sequencing.
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T. Dewey FE, et al. Among authors: grove me. JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717. JAMA. 2014. PMID: 24618965 Free PMC article.
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
Dewey FE, Grove ME, Priest JR, Waggott D, Batra P, Miller CL, Wheeler M, Zia A, Pan C, Karzcewski KJ, Miyake C, Whirl-Carrillo M, Klein TE, Datta S, Altman RB, Snyder M, Quertermous T, Ashley EA. Dewey FE, et al. Among authors: grove me. PLoS Genet. 2015 Oct 8;11(10):e1005496. doi: 10.1371/journal.pgen.1005496. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26448358 Free PMC article.
Medical implications of technical accuracy in genome sequencing.
Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA. Goldfeder RL, et al. Among authors: grove me. Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0. Genome Med. 2016. PMID: 26932475 Free PMC article.
Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA. Priest JR, et al. Among authors: grove m. Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. doi: 10.1073/pnas.1607187113. Epub 2016 Sep 28. Proc Natl Acad Sci U S A. 2016. PMID: 27681629 Free PMC article.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network; Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Oláhová M, et al. Among authors: grove me. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478781 Free PMC article.
379 results