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Steven Keiles

TitleAdjunct Professor
InstitutionCharles R. Drew University of Medicine and Science
DepartmentGeneral Studies
Address1731 E. 120th Street
Los Angeles CA 90059
PhoneNot Available
FaxNot Available
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    Bibliographic
    selected publications
    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. Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Hum Mutat. 2016 Jan; 37(1):127-34. PMID: 26467025; PMCID: PMC4737317.
      Citations: 36     Fields:    Translation:Humans
    2. Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gr?f S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Gr?nig E. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27. PMID: 26387786; PMCID: PMC4822159.
      Citations: 127     Fields:    Translation:HumansAnimalsCells
    3. Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA. The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn. 2014 Dec; 34(12):1161-7. PMID: 24996053.
      Citations: 9     Fields:    Translation:Humans
    4. Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS One. 2014; 9(5):e97408. PMID: 24830819; PMCID: PMC4022661.
      Citations: 33     Fields:    Translation:Humans
    5. LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7. PMID: 24763289; PMCID: PMC4225457.
      Citations: 174     Fields:    Translation:Humans
    6. Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014 Feb; 23(1):5-15. PMID: 24014130.
      Citations: 10     Fields:    Translation:Humans
    7. Lazrak A, Fu L, Bali V, Bartoszewski R, Rab A, Havasi V, Keiles S, Kappes J, Kumar R, Lefkowitz E, Sorscher EJ, Matalon S, Collawn JF, Bebok Z. The silent codon change I507-ATC->ATT contributes to the severity of the ?F508 CFTR channel dysfunction. FASEB J. 2013 Nov; 27(11):4630-45. PMID: 23907436; PMCID: PMC4046180.
      Citations: 44     Fields:    Translation:HumansCells
    8. Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H, California Cystic Fibrosis Newborn Screening Consortium. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep; 15(5):710-22. PMID: 23810505; PMCID: PMC5707181.
      Citations: 17     Fields:    Translation:HumansPHPublic Health
    9. Beer S, Zhou J, Szab? A, Keiles S, Chandak GR, Witt H, Sahin-T?th M. Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut. 2013 Nov; 62(11):1616-24. PMID: 22942235; PMCID: PMC3660471.
      Citations: 63     Fields:    Translation:HumansCells
    10. Boulling A, Keiles S, Masson E, Chen JM, F?rec C. Functional analysis of eight missense mutations in the SPINK1 gene. Pancreas. 2012 Mar; 41(2):329-30. PMID: 22343981.
      Citations: 10     Fields:    Translation:HumansCells
    11. Nakagawa S, Zhan J, Sun W, Ferreira JC, Keiles S, Hambuch T, Kammesheidt A, Mark BL, Schneider A, Gross S, Schreiber-Agus N. Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis. JIMD Rep. 2012; 6:1-6. PMID: 23430931; PMCID: PMC3565630.
      Citations: 2     
    12. Keiles S, Koepke R, Parad R, Kharrazi M, California Cystic Fibrosis Newborn Screening Consortium. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros. 2012 May; 11(3):257-60. PMID: 22209734.
      Citations: 3     Fields:    Translation:HumansPHPublic Health
    13. Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Carrier testing for spinal muscular atrophy. Genet Med. 2010 Oct; 12(10):621-2. PMID: 20808230; PMCID: PMC4277882.
      Citations: 9     Fields:    Translation:Humans
    14. Jambhekar SK, Carroll JL, Keiles S. Report of two patients with associated conditions in addition to cystic fibrosis. J Cyst Fibros. 2010 Jul; 9(4):269-71. PMID: 20510657.
      Citations: 2     Fields:    Translation:Humans
    15. Keiles S. 2008 National Society of Genetic Counselors Presidential address: the NSGC should do something about that... and we are. J Genet Couns. 2009 Apr; 18(2):105-8. PMID: 19229600.
      Citations:    Fields:    
    16. Havasi V, Keiles S, Hambuch T, Sorscher EJ, Kammesheidt A. The role of the F508C mutation in congenital bilateral absence of the vas deferens. Genet Med. 2008 Dec; 10(12):910-4. PMID: 19092444.
      Citations: 1     Fields:    Translation:Humans
    17. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct; 33(3):221-7. PMID: 17003641.
      Citations: 35     Fields:    Translation:Humans
    18. Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S. Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. Genet Med. 2006 Sep; 8(9):557-62. PMID: 16980811.
      Citations: 17     Fields:    Translation:HumansPHPublic Health
    19. Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May; 7(2):289-99. PMID: 15858154; PMCID: PMC1867528.
      Citations: 18     Fields:    Translation:Humans
    20. Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod. 2004 Mar; 19(3):540-6. PMID: 14998948.
      Citations: 7     Fields:    Translation:Humans
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