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Christopher Anthony Cassa, Ph.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HG010372 (CASSA, CHRISTOPHER) Sep 24, 2018 - Jun 30, 2023
    NIH/NHGRI
    Integrated pathogenicity assessment of clinically actionable genetic variants
    Role: Principal Investigator
  2. R00HG007229 (CASSA, CHRISTOPHER) Jul 1, 2013 - Jun 30, 2018
    NIH/NHGRI
    Clinical prioritization of reported disease variants in asymptomatic individuals
    Role: Principal Investigator
  3. K99HG007229 (CASSA, CHRISTOPHER) Jul 1, 2013 - Jun 30, 2015
    NIH/NHGRI
    Clinical prioritization of reported disease variants in asymptomatic individuals
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 Jan; 51(1):3-4. PMID: 30478437.
    Citations:    Fields:    
  2. Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI. Predictable and precise template-free CRISPR editing of pathogenic variants. Nature. 2018 11; 563(7733):646-651. PMID: 30405244.
    Citations:    Fields:    
  3. Kumar Mohanty A, Vuzman D, Francioli L, Cassa C, Toth-Petroczy A, Sunyaev S. novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data. Bioinformatics. 2018 Aug 30. PMID: 30169785.
    Citations:    Fields:    
  4. 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. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872.
    Citations:    
  5. Cassa CA, Jordan DM, Adzhubei I, Sunyaev S. A literature review at genome scale: improving clinical variant assessment. Genet Med. 2018 09; 20(9):936-941. PMID: 29388949.
    Citations:    Fields:    Translation:Humans
  6. Cassa CA, Akle S, Jordan DM, Rosenfeld JA. When "N of 2" is not enough: integrating statistical and functional data in gene discovery. Cold Spring Harb Mol Case Stud. 2017 05; 3(3):a001099. PMID: 28487880.
    Citations:    Fields:    Translation:Humans
  7. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. PMID: 28369035.
    Citations: 5     Fields:    Translation:HumansAnimals
  8. Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D, Mecham RP, Frank NY, Stitziel NO. Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. Proc Natl Acad Sci U S A. 2016 08 02; 113(31):8759-64. PMID: 27432961; PMCID: PMC4978273.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  9. 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, Vuzman D. An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. Rheumatology (Oxford). 2016 Mar; 55(3):586-9. PMID: 26493744; PMCID: PMC5009447.
    Citations: 1     Fields:    Translation:Humans
  10. Akle S, Chun S, Jordan DM, Cassa CA. Mitigating false-positive associations in rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):998-1003. PMID: 26378430; PMCID: PMC4576452.
    Citations: 5     Fields:    Translation:Humans
  11. Balick DJ, Do R, Cassa CA, Reich D, Sunyaev SR. Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck. PLoS Genet. 2015 Aug; 11(8):e1005436. PMID: 26317225.
    Citations: 11     Fields:    Translation:HumansAnimals
  12. Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J, Davis EE, Sunyaev SR, Katsanis N. Identification of cis-suppression of human disease mutations by comparative genomics. Nature. 2015 Aug 13; 524(7564):225-9. PMID: 26123021.
    Citations: 27     Fields:    Translation:HumansAnimals
  13. 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. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep; 3(5):413-23. PMID: 26436107.
    Citations: 3     Fields:    
  14. 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, 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, Dworzynski 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, Lovrecic L, Palandacic 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. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040.
    Citations: 35     Fields:    Translation:Humans
  15. Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013 Sep; 34(9):1216-20. PMID: 23818451; PMCID: PMC3786140.
    Citations: 21     Fields:    Translation:Humans
  16. Cassa CA, Chunara R, Mandl K, Brownstein JS. Twitter as a sentinel in emergency situations: lessons from the Boston marathon explosions. PLoS Curr. 2013 Jul 02; 5. PMID: 23852273; PMCID: PMC3706072.1.
    Citations: 11     
  17. Cassa CA, Miller RA, Mandl KD. A novel, privacy-preserving cryptographic approach for sharing sequencing data. J Am Med Inform Assoc. 2013 Jan 01; 20(1):69-76. PMID: 23125421; PMCID: PMC3555340.
    Citations: 2     Fields:    Translation:Humans
  18. Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 2012 Mar; 22(3):421-8. PMID: 22147367; PMCID: PMC3290777.
    Citations: 39     Fields:    Translation:Humans
  19. Tong MY, Cassa CA, Kohane IS. Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. Bioinformatics. 2011 Mar 15; 27(6):891-3. PMID: 21258063; PMCID: PMC3051330.
    Citations: 8     Fields:    Translation:Humans
  20. Malin, B, Cassa C, Kantarcioglu M . Privacy-Aware Knowledge Discovery: Novel Applications and New Techniques, Chapman Hall / CRC Press. A Survey of Challenges and Solutions for Privacy in Clinical Genomics Data Mining. 2010.
  21. Cassa CA, Mandl KD. AMIA Annu Symp Proc. 2009. Risk of Re-Identification: Privacy Implications for Rare Mutation. 2009.
  22. Stoto, M. A., Dempsey, J. X., Baer, A., Cassa, C., Gibson, P. J., & Buehler, J. W. . Advances in Disease Surveillance. Expert Meeting on Privacy, Confidentiality, and Other Legal and Ethical Issues in Syndromic Surveillance. 2009; 7(2).
    View Publication
  23. Wieland SC, Cassa CA, Mandl KD, Berger B. Revealing the spatial distribution of a disease while preserving privacy. Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46):17608-13. PMID: 19015533; PMCID: PMC2584758.
    Citations: 15     Fields:    Translation:Humans
  24. Cassa CA, Kenfield S, Daniel J, Mandl KD. The Massachusetts Health and Homeland Alert Network: a scalable and secure public health knowledge management and notification system. AMIA Annu Symp Proc. 2008 Nov 06; 893. PMID: 18999074.
    Citations:    Fields:    Translation:PHPublic Health
  25. Cassa CA, Wieland SC, Mandl KD. Re-identification of home addresses from spatial locations anonymized by Gaussian skew. Int J Health Geogr. 2008 Aug 12; 7:45. PMID: 18700031; PMCID: PMC2526988.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  26. Cassa CA, Schmidt B, Kohane IS, Mandl KD. My sister's keeper?: genomic research and the identifiability of siblings. BMC Med Genomics. 2008 Jul 25; 1:32. PMID: 18655711; PMCID: PMC2503988.
    Citations: 5     Fields:    
  27. Cassa, Christopher A. Privacy and identifiability in clinical research, personalized medicine, and public health surveillance. 2008.
    View Publication
  28. Cassa CA, Mandl KD. Multi-factor authentication using contents from disparate EHRs. AMIA Annu Symp Proc. 2007 Oct 11; 891. PMID: 18693992.
    Citations:    Fields:    Translation:Humans
  29. Brownstein JS, Cassa CA, Kohane IS, Mandl KD. An unsupervised classification method for inferring original case locations from low-resolution disease maps. Int J Health Geogr. 2006 Dec 08; 5:56. PMID: 17156451; PMCID: PMC1702538.
    Citations: 7     Fields:    Translation:Humans
  30. Brownstein JS, Cassa CA, Mandl KD. No place to hide--reverse identification of patients from published maps. N Engl J Med. 2006 Oct 19; 355(16):1741-2. PMID: 17050904.
    Citations: 18     Fields:    Translation:Humans
  31. Grannis S, Egg J, Cassa C, Olson K, Mandl K, Overhage J . Proc Symp 2006 Syndromic Surveillance Conf, Baltimore, MD. Evaluating the Performance of a Spatial Scan Statistic Using Simulated Outbreak Characteristics. 2006.
  32. Cassa CA, Grannis SJ, Overhage JM, Mandl KD. A context-sensitive approach to anonymizing spatial surveillance data: impact on outbreak detection. J Am Med Inform Assoc. 2006 Mar-Apr; 13(2):160-5. PMID: 16357353; PMCID: PMC1447544.
    Citations: 24     Fields:    Translation:HumansPHPublic Health
  33. Cassa CA, Iancu K, Olson KL, Mandl KD. A software tool for creating simulated outbreaks to benchmark surveillance systems. BMC Med Inform Decis Mak. 2005 Jul 14; 5:22. PMID: 16018815; PMCID: PMC1182374.
    Citations: 8     Fields:    Translation:HumansPHPublic Health
  34. Brownstein JS, Cassa CA, Kohane IS, Mandl KD. Reverse geocoding: concerns about patient confidentiality in the display of geospatial health data. AMIA Annu Symp Proc. 2005; 905. PMID: 16779192; PMCID: PMC1560748.
    Citations: 5     Fields:    Translation:Humans
  35. Grannis S, Mandl K, Olson K, Cassa C, Overhage JM . International Society of Disease Surveillance Annu Symp Proc. Boston, MA. Geographic Coordinate Transformation Methods to Reduce Privacy Risks Associated with Surveillance. 2004.
  36. Mandl KD, Reis B, Cassa C. Measuring outbreak-detection performance by using controlled feature set simulations. MMWR Suppl. 2004 Sep 24; 53:130-6. PMID: 15714642.
    Citations: 20     Translation:HumansPHPublic Health
  37. Cassa, Christopher A. Spatial outbreak detection analysis tool : a system to create sets of semi-synthetic geo-spatial clusters. 2004.
    View Publication
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.