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Items: 14

1.

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center, Torres VE, Somlo S, Mirshahi T.

J Am Soc Nephrol. 2019 Aug 8. pii: ASN.2019030298. doi: 10.1681/ASN.2019030298. [Epub ahead of print]

PMID:
31395617
2.

Routinely reported ejection fraction and mortality in clinical practice: where does the nadir of risk lie?

Wehner GJ, Jing L, Haggerty CM, Suever JD, Leader JB, Hartzel DN, Kirchner HL, Manus JNA, James N, Ayar Z, Gladding P, Good CW, Cleland JGF, Fornwalt BK.

Eur Heart J. 2019 Aug 6. pii: ehz550. doi: 10.1093/eurheartj/ehz550. [Epub ahead of print]

PMID:
31386109
3.

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.

Park J, Levin MG, Haggerty CM, Hartzel DN, Judy R, Kember RL, Reza N; Regeneron Genetics Center, Ritchie MD, Owens AT, Damrauer SM, Rader DJ.

Genet Med. 2019 Aug 6. doi: 10.1038/s41436-019-0625-8. [Epub ahead of print]

PMID:
31383942
4.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Lester Kirchner H, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z.

Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.

PMID:
31216868
5.

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.

6.

Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide.

Verma SS, Josyula N, Verma A, Zhang X, Veturi Y, Dewey FE, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Sci Rep. 2018 Oct 23;8(1):15911. doi: 10.1038/s41598-018-27936-7.

7.

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Smith JL, Tester DJ, Hall AR, Burgess DE, Hsu CC, Elayi SC, Anderson CL, January CT, Luo JZ, Hartzel DN, Mirshahi UL, Murray MF, Mirshahi T, Ackerman MJ, Delisle BP.

Circ Arrhythm Electrophysiol. 2018 May;11(5):e005859. doi: 10.1161/CIRCEP.117.005859.

PMID:
29752375
8.

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

Verma A, Lucas A, Verma SS, Zhang Y, Josyula N, Khan A, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Am J Hum Genet. 2018 Apr 5;102(4):592-608. doi: 10.1016/j.ajhg.2018.02.017. Epub 2018 Mar 29.

9.

Rare variants in drug target genes contributing to complex diseases, phenome-wide.

Verma SS, Josyula N, Verma A, Zhang X, Veturi Y, Dewey FE, Hartzel DN, Lavage DR, Leader J, Ritchie MD, Pendergrass SA.

Sci Rep. 2018 Mar 15;8(1):4624. doi: 10.1038/s41598-018-22834-4. Erratum in: Sci Rep. 2018 Oct 23;8(1):15911.

10.

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK.

Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4.

11.

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.

Khera AV, Won HH, Peloso GM, O'Dushlaine C, Liu D, Stitziel NO, Natarajan P, Nomura A, Emdin CA, Gupta N, Borecki IB, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartzel DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer C, Abecasis GR, Saleheen D, Dewey FE, Kathiresan S; Myocardial Infarction Genetics Consortium, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium.

JAMA. 2017 Mar 7;317(9):937-946. doi: 10.1001/jama.2017.0972.

12.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF.

Science. 2016 Dec 23;354(6319). pii: aaf7000. doi: 10.1126/science.aaf7000.

PMID:
28008010
13.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ.

Science. 2016 Dec 23;354(6319). pii: aaf6814. doi: 10.1126/science.aaf6814.

PMID:
28008009
14.

Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes.

Leader JB, Pendergrass SA, Verma A, Carey DJ, Hartzel DN, Ritchie MD, Kirchner HL.

AMIA Annu Symp Proc. 2015 Nov 5;2015:824-32. eCollection 2015.

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