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Steven Michael Harrison, Ph.D.

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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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  1. Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb; 12(2):e002460. PMID: 30681346.
    Citations:    
  2. Niehaus A, Azzariti DR, Harrison SM, DiStefano MT, Hemphill SE, Senol-Cosar O, Rehm HL. A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement. Genet Med. 2019 Jan 23. PMID: 30670879.
    Citations:    Fields:    
  3. Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 Jan 03; 104(1):187-190. PMID: 30609406.
    Citations:    Fields:    
  4. Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M, Burn J, Chanock S, Rätsch G, Spurdle AB. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752. PMID: 30586411.
    Citations:    Fields:    
  5. Biesecker LG, Harrison SM. The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Genet Med. 2018 12; 20(12):1687-1688. PMID: 29543229.
    Citations: 2     Fields:    
  6. Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. ClinGen's GenomeConnect registry enables patient-centered data sharing. Hum Mutat. 2018 Nov; 39(11):1668-1676. PMID: 30311371.
    Citations:    Fields:    
  7. Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 Nov; 39(11):1525-1530. PMID: 30311383.
    Citations: 1     Fields:    
  8. Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 Nov; 39(11):1614-1622. PMID: 30311389.
    Citations:    Fields:    
  9. Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018 Nov; 39(11):1641-1649. PMID: 30311378.
    Citations:    Fields:    
  10. Iqbal NS, Jascur TA, Harrison S, Chen C, Arevalo MK, Wong D, Sanchez E, Grimsby G, Wilson K, Baker LA. Copy number variations in a population with prune belly syndrome. Am J Med Genet A. 2018 Nov; 176(11):2276-2283. PMID: 30285310.
    Citations:    
  11. Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 Nov; 39(11):1517-1524. PMID: 30192042.
    Citations: 2     Fields:    
  12. Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K. ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. Hum Mutat. 2018 08; 39(8):1051-1060. PMID: 29790234.
    Citations: 4     Fields:    
  13. Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genet Med. 2018 03; 20(3):351-359. PMID: 29300372.
    Citations: 11     Fields:    Translation:Humans
  14. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018 09; 20(9):1054-1060. PMID: 29300386.
    Citations: 7     Fields:    Translation:Humans
  15. Rehm HL, Harrison SM, Martin CL. ClinVar Is a Critical Resource to Advance Variant Interpretation. Oncologist. 2017 12; 22(12):1562. PMID: 28851762.
    Citations:    Fields:    Translation:Humans
  16. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104. PMID: 28301460.
    Citations: 26     Fields:    Translation:Humans
  17. Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 01 12; 9(1):3. PMID: 28081714.
    Citations: 6     Fields:    Translation:Humans
  18. Harrison SM, Riggs ER, Maglott DR, Lee JM, Azzariti DR, Niehaus A, Ramos EM, Martin CL, Landrum MJ, Rehm HL. Using ClinVar as a Resource to Support Variant Interpretation. Curr Protoc Hum Genet. 2016 Apr 01; 89:8.16.1-8.16.23. PMID: 27037489; PMCID: PMC4832236.
    Citations: 15     Fields:    Translation:Humans
  19. Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep; 23(9):1266-8. PMID: 25407000; PMCID: PMC4538215.
    Citations: 10     Fields:    Translation:HumansCells
  20. Deakin A, Duddy G, Wilson S, Harrison S, Latcham J, Fulleylove M, Fung S, Smith J, Pedrick M, McKevitt T, Felton L, Morley J, Quint D, Fattah D, Hayes B, Gough J, Solari R. Characterisation of a K390R ITK kinase dead transgenic mouse--implications for ITK as a therapeutic target. PLoS One. 2014; 9(9):e107490. PMID: 25250764; PMCID: PMC4174519.
    Citations: 1     Fields:    Translation:AnimalsCells
  21. Harrison SM, Granberg CF, Keays M, Hill M, Grimsby GM, Baker LA. DNA copy number variations in patients with 46,XY disorders of sex development. J Urol. 2014 Dec; 192(6):1801-6. PMID: 24946221.
    Citations: 3     Fields:    Translation:Humans
  22. Harrison SM, Seideman C, Baker LA. DNA copy number variations in patients with persistent cloaca. J Urol. 2014 May; 191(5 Suppl):1543-6. PMID: 24679878.
    Citations: 2     Fields:    Translation:Humans
  23. Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2014 Mar; 164(3):451-7.e1. PMID: 24332453.
    Citations: 11     Fields:    Translation:Humans
  24. Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct; 161A(10):2487-94. PMID: 23918653; PMCID: PMC3788034.
    Citations: 2     Fields:    Translation:HumansCells
  25. Chang SW, Mislankar M, Misra C, Huang N, Dajusta DG, Harrison SM, McBride KL, Baker LA, Garg V. Genetic abnormalities in FOXP1 are associated with congenital heart defects. Hum Mutat. 2013 Sep; 34(9):1226-30. PMID: 23766104.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  26. Granberg CF, Harrison SM, Dajusta D, Zhang S, Hajarnis S, Igarashi P, Baker LA. Genetic basis of prune belly syndrome: screening for HNF1ß gene. J Urol. 2012 Jan; 187(1):272-8. PMID: 22114815.
    Citations: 13     Fields:    Translation:Humans
  27. Harrison SM, Harper AJ, Hawkins J, Duddy G, Grau E, Pugh PL, Winter PH, Shilliam CS, Hughes ZA, Dawson LA, Gonzalez MI, Upton N, Pangalos MN, Dingwall C. BACE1 (beta-secretase) transgenic and knockout mice: identification of neurochemical deficits and behavioral changes. Mol Cell Neurosci. 2003 Nov; 24(3):646-55. PMID: 14664815.
    Citations: 52     Fields:    Translation:AnimalsCells
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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.