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Items: 1 to 20 of 65

1.

Design and Reporting Considerations for Genetic Screening Tests.

Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D.

J Mol Diagn. 2020 Feb 21. pii: S1525-1578(20)30038-6. doi: 10.1016/j.jmoldx.2020.01.014. [Epub ahead of print] Review.

PMID:
32092541
2.

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S.

J Am Coll Cardiol. 2019 Nov 26;74(21):2623-2634. doi: 10.1016/j.jacc.2019.08.1060. Epub 2019 Nov 11.

PMID:
31727422
3.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium.

Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22.

PMID:
31447099
4.

Automated typing of red blood cell and platelet antigens from whole exome sequences.

Lane WJ, Vege S, Mah HH, Lomas-Francis C, Aguad M, Smeland-Wagman R, Koch C, Killian JM, Gardner CL, De Castro M, Lebo MS, Kaufman RM, Green RC, Westhoff CM; MilSeq Project.

Transfusion. 2019 Oct;59(10):3253-3263. doi: 10.1111/trf.15473. Epub 2019 Aug 8.

PMID:
31392742
5.

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H; MedSeq Project, Green RC, Lebo M, Rehm HL.

Am J Hum Genet. 2019 Jul 3;105(1):177-188. doi: 10.1016/j.ajhg.2019.05.017. Epub 2019 Jun 27.

6.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Evans P, Wu C, Lindy A, McKnight DA, Lebo M, Sarmady M, Abou Tayoun AN.

Genome Res. 2019 Jul;29(7):1144-1151. doi: 10.1101/gr.240994.118. Epub 2019 Jun 24.

7.

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS.

Genet Med. 2019 Dec;21(12):2765-2773. doi: 10.1038/s41436-019-0560-8. Epub 2019 May 31.

PMID:
31147632
8.

Correction: Variant classification changes over time in BRCA1 and BRCA2.

Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.

Genet Med. 2019 Oct;21(10):2406-2407. doi: 10.1038/s41436-019-0526-x.

PMID:
31043710
9.

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.

Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S.

Cell. 2019 Apr 18;177(3):587-596.e9. doi: 10.1016/j.cell.2019.03.028.

PMID:
31002795
10.

Variant classification changes over time in BRCA1 and BRCA2.

Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.

Genet Med. 2019 Oct;21(10):2248-2254. doi: 10.1038/s41436-019-0493-2. Epub 2019 Apr 11. Erratum in: Genet Med. 2019 May 2;:.

PMID:
30971832
11.

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.

JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.

12.

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS.

J Mol Diagn. 2019 Mar;21(2):318-329. doi: 10.1016/j.jmoldx.2018.10.009. Epub 2019 Jan 3.

13.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team.

Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

14.

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B.

J Mol Diagn. 2019 May;21(3):369-374. doi: 10.1016/j.jmoldx.2018.11.004. Epub 2018 Dec 31. Review.

PMID:
30605766
15.

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team.

Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H.

16.

Challenging the Current Recommendations for Carrier Testing in Children.

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F. Review.

17.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.

18.

A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga.

Lane WJ, Aguad M, Smeland-Wagman R, Vege S, Mah HH, Joseph A, Blout CL, Nguyen TT, Lebo MS, Sidhu M, Lomas-Francis C, Kaufman RM, Green RC, Westhoff CM; MedSeq Project.

Transfusion. 2019 Mar;59(3):908-915. doi: 10.1111/trf.15089. Epub 2018 Dec 28.

PMID:
30592300
19.

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB; BabySeq Project Team.

Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.

20.

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.

Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF.

Am J Hum Genet. 2018 Sep 6;103(3):328-337. doi: 10.1016/j.ajhg.2018.07.009. Epub 2018 Aug 9.

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