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Items: 28

1.

Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants.

Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI.

Nature. 2019 Mar;567(7746):E1-E2. doi: 10.1038/s41586-019-0938-4.

PMID:
30765887
2.

Reply to 'Selective effects of heterozygous protein-truncating variants'.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR.

Nat Genet. 2019 Jan;51(1):3-4. doi: 10.1038/s41588-018-0301-y. No abstract available.

PMID:
30478437
3.

Predictable and precise template-free CRISPR editing of pathogenic variants.

Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI.

Nature. 2018 Nov;563(7733):646-651. doi: 10.1038/s41586-018-0686-x. Epub 2018 Nov 7. Erratum in: Nature. 2019 Mar;567(7746):E1-E2.

PMID:
30405244
4.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

5.

A literature review at genome scale: improving clinical variant assessment.

Cassa CA, Jordan DM, Adzhubei I, Sunyaev S.

Genet Med. 2018 Sep;20(9):936-941. doi: 10.1038/gim.2017.230. Epub 2018 Feb 1. Review.

6.

When "N of 2" is not enough: integrating statistical and functional data in gene discovery.

Cassa CA, Akle S, Jordan DM, Rosenfeld JA.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099.

7.

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR.

Nat Genet. 2017 May;49(5):806-810. doi: 10.1038/ng.3831. Epub 2017 Apr 3.

8.

An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.

Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine, Vuzman D.

Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. No abstract available.

9.

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.

Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA.

Mol Genet Genomic Med. 2015 Sep;3(5):413-23. doi: 10.1002/mgg3.152. Epub 2015 May 10.

10.

Mitigating false-positive associations in rare disease gene discovery.

Akle S, Chun S, Jordan DM, Cassa CA.

Hum Mutat. 2015 Oct;36(10):998-1003. doi: 10.1002/humu.22847.

11.

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.

Balick DJ, Do R, Cassa CA, Reich D, Sunyaev SR.

PLoS Genet. 2015 Aug 28;11(8):e1005436. doi: 10.1371/journal.pgen.1005436. eCollection 2015 Aug.

12.

Identification of cis-suppression of human disease mutations by comparative genomics.

Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J; Task Force for Neonatal Genomics, Davis EE, Sunyaev SR, Katsanis N.

Nature. 2015 Aug 13;524(7564):225-9. doi: 10.1038/nature14497. Epub 2015 Jun 29.

13.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

14.

Twitter as a sentinel in emergency situations: lessons from the Boston marathon explosions.

Cassa CA, Chunara R, Mandl K, Brownstein JS.

Version 2. PLoS Curr. 2013 Jul 2 [revised 2013 Jan 1];5. pii: ecurrents.dis.ad70cd1c8bc585e9470046cde334ee4b. doi: 10.1371/currents.dis.ad70cd1c8bc585e9470046cde334ee4b.

15.

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.

Cassa CA, Tong MY, Jordan DM.

Hum Mutat. 2013 Sep;34(9):1216-20. doi: 10.1002/humu.22375. Epub 2013 Aug 5.

16.

A novel, privacy-preserving cryptographic approach for sharing sequencing data.

Cassa CA, Miller RA, Mandl KD.

J Am Med Inform Assoc. 2013 Jan 1;20(1):69-76. doi: 10.1136/amiajnl-2012-001366. Epub 2012 Nov 2.

17.

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.

Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD.

Genome Res. 2012 Mar;22(3):421-8. doi: 10.1101/gr.127845.111. Epub 2012 Jan 6.

18.

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.

Tong MY, Cassa CA, Kohane IS.

Bioinformatics. 2011 Mar 15;27(6):891-3. doi: 10.1093/bioinformatics/btr029. Epub 2011 Jan 22.

19.

Revealing the spatial distribution of a disease while preserving privacy.

Wieland SC, Cassa CA, Mandl KD, Berger B.

Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17608-13. doi: 10.1073/pnas.0801021105. Epub 2008 Nov 17.

20.
21.

Re-identification of home addresses from spatial locations anonymized by Gaussian skew.

Cassa CA, Wieland SC, Mandl KD.

Int J Health Geogr. 2008 Aug 12;7:45. doi: 10.1186/1476-072X-7-45.

22.

Multi-factor authentication using contents from disparate EHRs.

Cassa CA, Mandl KD.

AMIA Annu Symp Proc. 2007 Oct 11:891.

PMID:
18693992
23.

My sister's keeper?: genomic research and the identifiability of siblings.

Cassa CA, Schmidt B, Kohane IS, Mandl KD.

BMC Med Genomics. 2008 Jul 25;1:32. doi: 10.1186/1755-8794-1-32.

24.

An unsupervised classification method for inferring original case locations from low-resolution disease maps.

Brownstein JS, Cassa CA, Kohane IS, Mandl KD.

Int J Health Geogr. 2006 Dec 8;5:56.

25.

No place to hide--reverse identification of patients from published maps.

Brownstein JS, Cassa CA, Mandl KD.

N Engl J Med. 2006 Oct 19;355(16):1741-2. No abstract available.

PMID:
17050904
26.

Reverse geocoding: concerns about patient confidentiality in the display of geospatial health data.

Brownstein JS, Cassa CA, Kohane IS, Mandl KD.

AMIA Annu Symp Proc. 2005:905.

27.

A context-sensitive approach to anonymizing spatial surveillance data: impact on outbreak detection.

Cassa CA, Grannis SJ, Overhage JM, Mandl KD.

J Am Med Inform Assoc. 2006 Mar-Apr;13(2):160-5. Epub 2005 Dec 15.

28.

A software tool for creating simulated outbreaks to benchmark surveillance systems.

Cassa CA, Iancu K, Olson KL, Mandl KD.

BMC Med Inform Decis Mak. 2005 Jul 14;5:22.

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