Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Steven Michael Harrison, Ph.D.

Profile Picture

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.
Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
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. Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Mar 16. PMID: 33727704.
    Citations:    Fields:    
  2. Biesecker LG, Harrison SM, Rehm HL. Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al. Genet Med. 2021 Mar; 23(3):586. PMID: 33154565.
    Citations:    Fields:    
  3. Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020; 5:47. PMID: 33110627.
    Citations: 1     
  4. Harrison SM, Funke B. Use of "Coldspot" Regions in Variant Classification. Clin Chem. 2020 Oct 01; 66(10):1263-1265. PMID: 33001183.
    Citations:    Fields:    
  5. Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Hum Mutat. 2020 Jul 27. PMID: 32720330.
    Citations: 2     Fields:    
  6. Iqbal NS, Jascur TA, Harrison SM, Edwards AB, Smith LT, Choi ES, Arevalo MK, Chen C, Zhang S, Kern AJ, Scheuerle AE, Sanchez EJ, Xing C, Baker LA. Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet. 2020 02 21; 21(1):38. PMID: 32085749.
    Citations:    Fields:    Translation:HumansCells
  7. Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med. 2019 12 31; 12(1):3. PMID: 31892348.
    Citations: 24     Fields:    Translation:Humans
  8. Harrison SM, Rehm HL. Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar. Genome Med. 2019 11 21; 11(1):72. PMID: 31752965.
    Citations: 9     Fields:    Translation:Humans
  9. Sifuentes-Dominguez LF, Li H, Llano E, Liu Z, Singla A, Patel AS, Kathania M, Khoury A, Norris N, Rios JJ, Starokadomskyy P, Park JY, Gopal P, Liu Q, Tan S, Chan L, Ross T, Harrison S, Venuprasad K, Baker LA, Jia D, Burstein E. SCGN deficiency results in colitis susceptibility. Elife. 2019 10 30; 8. PMID: 31663849.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  10. Harrison SM, Bush NC, Wang Y, Mucher ZR, Lorenzo AJ, Grimsby GM, Schlomer BJ, Büllesbach EE, Baker LA. Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life. Front Endocrinol (Lausanne). 2019; 10:596. PMID: 31611843.
    Citations: 1     
  11. Harrison SM, Biesecker LG, Rehm HL. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. Curr Protoc Hum Genet. 2019 09; 103(1):e93. PMID: 31479589.
    Citations: 5     Fields:    Translation:Humans
  12. 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 02; 12(2):e002460. PMID: 30681346.
    Citations: 23     Fields:    Translation:Humans
  13. 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 08; 21(8):1699-1701. PMID: 30670879.
    Citations: 4     Fields:    
  14. 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 01 03; 104(1):187-190. PMID: 30609406.
    Citations: 2     Fields:    
  15. 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: 28     Fields:    Translation:Humans
  16. 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: 26     Fields:    
  17. 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 11; 39(11):1668-1676. PMID: 30311371.
    Citations: 1     Fields:    Translation:Humans
  18. Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 11; 39(11):1525-1530. PMID: 30311383.
    Citations: 13     Fields:    Translation:Humans
  19. 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 11; 39(11):1614-1622. PMID: 30311389.
    Citations: 30     Fields:    Translation:Humans
  20. 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 11; 39(11):1641-1649. PMID: 30311378.
    Citations: 10     Fields:    Translation:Humans
  21. 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. . 2018 11; 176(11):2276-2283. PMID: 30285310.
    Citations:    Translation:Humans
  22. 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 11; 39(11):1517-1524. PMID: 30192042.
    Citations: 65     Fields:    Translation:Humans
  23. 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: 15     Fields:    Translation:Humans
  24. 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: 50     Fields:    Translation:Humans
  25. 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: 54     Fields:    Translation:Humans
  26. Rehm HL, Harrison SM, Martin CL. ClinVar Is a Critical Resource to Advance Variant Interpretation. Oncologist. 2017 12; 22(12):1562. PMID: 28851762.
    Citations: 1     Fields:    Translation:Humans
  27. 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: 65     Fields:    Translation:Humans
  28. 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: 22     Fields:    Translation:Humans
  29. 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.
    Citations: 31     Fields:    Translation:Humans
  30. 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.
    Citations: 21     Fields:    Translation:HumansCells
  31. 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.
    Citations: 3     Fields:    Translation:AnimalsCells
  32. 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: 4     Fields:    Translation:Humans
  33. 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: 4     Fields:    Translation:Humans
  34. Bojjireddy N, Botyanszki J, Hammond G, Creech D, Peterson R, Kemp DC, Snead M, Brown R, Morrison A, Wilson S, Harrison S, Moore C, Balla T. Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels. J Biol Chem. 2014 Feb 28; 289(9):6120-32. PMID: 24415756.
    Citations: 47     Fields:    Translation:HumansAnimalsCells
  35. 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: 18     Fields:    Translation:Humans
  36. 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. . 2013 Oct; 161A(10):2487-94. PMID: 23918653.
    Citations: 4     Translation:HumansCells
  37. 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: 19     Fields:    Translation:HumansAnimalsCells
  38. 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: 19     Fields:    Translation:Humans
  39. 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: 57     Fields:    Translation:AnimalsCells
Local representatives can answer questions about the Profiles website or help with editing a profile or issues with profile data. For assistance with this profile: HMS/HSDM faculty should contact feedbackcatalyst.harvard.edu. For faculty or fellow appointment updates and changes, please ask your appointing department to contact HMS. For fellow personal and demographic information, contact HMS Human Resources at human_resourceshms.harvard.edu. For faculty personal and demographic information, contact HMS Office for Faculty Affairs at facappthms.harvard.edu.
Harrison's Networks
Click the
buttons for more information and interactive visualizations!
Concepts (169)
Co-Authors (8)
Similar People (60)
Same Department 
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.