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The Deep Genome Project.
Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Among authors: macrae ca. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.
Animal-based studies will be essential for precision medicine.
Lloyd KC, Robinson PN, MacRae CA. Lloyd KC, et al. Among authors: macrae ca. Sci Transl Med. 2016 Aug 17;8(352):352ed12. doi: 10.1126/scitranslmed.aaf5474. Sci Transl Med. 2016. PMID: 27535618 No abstract available.
Promoting validation and cross-phylogenetic integration in model organism research.
Cheng KC, Burdine RD, Dickinson ME, Ekker SC, Lin AY, Lloyd KCK, Lutz CM, MacRae CA, Morrison JH, O'Connor DH, Postlethwait JH, Rogers CD, Sanchez S, Simpson JH, Talbot WS, Wallace DC, Weimer JM, Bellen HJ. Cheng KC, et al. Among authors: macrae ca. Dis Model Mech. 2022 Sep 1;15(9):dmm049600. doi: 10.1242/dmm.049600. Epub 2022 Sep 20. Dis Model Mech. 2022. PMID: 36125045 Free PMC article.
The genetics of atrial fibrillation.
Sabeh MK, MacRae CA. Sabeh MK, et al. Among authors: macrae ca. Curr Opin Cardiol. 2010 May;25(3):186-91. doi: 10.1097/HCO.0b013e3283385734. Curr Opin Cardiol. 2010. PMID: 20224389 Review.
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project. Vassy JL, et al. Among authors: macrae ca. Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85. Trials. 2014. PMID: 24645908 Free PMC article. Clinical Trial.
Prioritizing causal disease genes using unbiased genomic features.
Deo RC, Musso G, Tasan M, Tang P, Poon A, Yuan C, Felix JF, Vasan RS, Beroukhim R, De Marco T, Kwok PY, MacRae CA, Roth FP. Deo RC, et al. Among authors: macrae ca. Genome Biol. 2014 Dec 3;15(12):534. doi: 10.1186/s13059-014-0534-8. Genome Biol. 2014. PMID: 25633252 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
360 results