Keiles SB - Search Results

1

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E. Machado RD, et al. Among authors: keiles sb. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Hum Mutat. 2015. PMID: 26387786 Free PMC article. Review.

2

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

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. Karbassi I, et al. Among authors: keiles sb. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.

3

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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. LaDuca H, et al. Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24. Genet Med. 2014. PMID: 24763289 Free PMC article.

4

The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM. Chong HK, et al. PLoS One. 2014 May 15;9(5):e97408. doi: 10.1371/journal.pone.0097408. eCollection 2014. PLoS One. 2014. PMID: 24830819 Free PMC article.

5

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.

Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S. Kammesheidt A, et al. Genet Med. 2006 Sep;8(9):557-62. doi: 10.1097/01.gim.0000237793.19868.97. Genet Med. 2006. PMID: 16980811 Free article.

6

The role of the F508C mutation in congenital bilateral absence of the vas deferens.

Havasi V, Keiles S, Hambuch T, Sorscher EJ, Kammesheidt A. Havasi V, et al. Genet Med. 2008 Dec;10(12):910-4. doi: 10.1097/GIM.0b013e31818e594d. Genet Med. 2008. PMID: 19092444 Free article.

7

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S, Kammesheidt A. Keiles S, et al. Pancreas. 2006 Oct;33(3):221-7. doi: 10.1097/01.mpa.0000232014.94974.75. Pancreas. 2006. PMID: 17003641

8

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.

Keiles S, Koepke R, Parad R, Kharrazi M; California Cystic Fibrosis Newborn Screening Consortium. Keiles S, et al. J Cyst Fibros. 2012 May;11(3):257-60. doi: 10.1016/j.jcf.2011.11.010. Epub 2011 Dec 30. J Cyst Fibros. 2012. PMID: 22209734 Free article.

9

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A. Schrijver I, et al. J Mol Diagn. 2005 May;7(2):289-99. doi: 10.1016/S1525-1578(10)60557-0. J Mol Diagn. 2005. PMID: 15858154 Free PMC article.

10

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

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. Prach L, et al. J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. J Mol Diagn. 2013. PMID: 23810505 Free PMC article.

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