KarlaReneeBowlesMD

PubMed

• 25 citations
  Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.
  Lisa Esterling, Ranjula Wijayatunge, Krystal Brown, Brian Morris, Elisha Hughes, Dmitry Pruss, Susan Manley, Karla R. Bowles, Theodora S. Ross> ;JCO Precision Oncology. 2020 Aug 27
• 3 citations
  Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
  Karla R. Bowles, Debora Mancini-DiNardo, Bradford Coffee, Hannah C. Cox, Yaping Qian, Maria Elias, Nanda Singh, Thaddeus Judkins, Benoît Leclair, Benjamin B. Roa> ;Future Oncology. 2019 Jan 1
• 22 citations
  Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
  Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hannah C. Cox, Krystal Brown, Maria Elias, Nanda Singh, Courtney Daniels, Jayson Holladay, Bradford Coffee, Karl...> ;Cancer Genetics. 2017 Oct 1
• 9 citations
  Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing
  Erin Mundt, Paola Nix, Krystal Brown, Karla R. Bowles, Susan Manley> ;Journal of Clinical Oncology. 2017 Oct 5
• 9 citations
  Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
  Brian Morris, Elisha Hughes, Eric Rosenthal, Alexander Gutin, Karla R. Bowles> ;BMC Genetics. 2016 Jul 1
• 194 citations
  Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
  Matthew B. Yurgelun, Brian Allen, Rajesh R. Kaldate, Karla R. Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B. Roa, Richard J. Wenstrup, Anne-Renee Hartman, Sapn...> ;Gastroenterology. 2015 Sep 1
• 84 citations
  Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
  Thaddeus Judkins, Benoît Leclair, Karla R. Bowles, Natalia Gutin, Jeffrey T. Trost, James McCulloch, Satish Bhatnagar, Adam Murray, Jonathan Craft, Bryan Wardell, Mark...> ;BMC Cancer. 2015 Apr 2
• 317 citations
  Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel
  Nadine Tung, Chiara Battelli, Brian Allen, Rajesh R. Kaldate, Satish Bhatnagar, Karla R. Bowles, Kirsten Timms, Judy Garber, Christina I. Herold, Leif W. Ellisen, Jill...> ;Cancer. 2015 Jan 1
• 33 citations
  Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
  Dmitry Pruss, Brian Morris, Elisha Hughes, Julie M. Eggington, Lisa Esterling, Brandon S. Robinson, Aric van Kan, Priscilla H. Fernandes, Benjamin B. Roa, Alexander Gu...> ;Breast Cancer Research and Treatment. 2014 Aug 2
• 49 citations
  Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay
  Kajal Biswas, Ranabir Das, Julie M. Eggington, Huanyu Qiao, Susan L. North, Stacey Stauffer, Sandra Burkett, Betty K. Martin, Eileen Southon, Scott C. Sizemore, Dmitry...> ;Human Molecular Genetics. 2012 Sep 15
• 33 citations
  Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transpla...
  Mousumi Moulik, John P. Breinholt, William J. Dreyer, Debra L. Kearney, Jack F. Price, Sarah K. Clunie, Brady S. Moffett, Jeffrey J. Kim, Joseph W. Rossano, John L. Je...> ;Journal of the American College of Cardiology. 2010 Aug 10
• 48 citations
  Viral epidemiologic shift in inflammatory heart disease: the increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients.
  John P. Breinholt, Mousumi Moulik, William J. Dreyer, Susan W. Denfield, Jeffrey J. Kim, John L. Jefferies, Joseph W. Rossano, Corey M. Gates, Sarah K. Clunie, Karla R...> ;The Journal of Heart and Lung Transplantation. 2010 Jul 1
• 12 citations
  Viral genomic detection and outcome in myocarditis.
  Neil E. Bowles, Karla R. Bowles, Jeffrey A. Towbin> ;Heart Failure Clinics. 2005 Oct 1
• 130 citations
  Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
  Yanlin Xing, Fukiko Ichida, Taro Matsuoka, Takeshi Isobe, Yumiko Ikemoto, Takashi Higaki, Tohru Tsuji, Noriyuki Haneda, Atsushi Kuwabara, Rui Chen, Takeshi Futatani, S...> ;Molecular Genetics and Metabolism. 2006 May 1
• 29 citations
  Intrafamilial variability of noncompaction of the ventricular myocardium
  Mark T. Johnson, Shaoxiong Zhang, Robert C. Gilkeson, Rebecca K. Ameduri, Ernest Siwik, Chandrakant R. Patel, Oleg Chebotarev, Alexander B. Kenton, Karla R. Bowles, Je...> ;American Heart Journal. 2006 May 1
• 110 citations
  Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
  Zhao Yang, Colin J. McMahon, Liana R. Smith, Jeathrina Bersola, Adekunle M. Adesina, John P. Breinholt, Debra L. Kearney, William J. Dreyer, Susan W. Denfield, Jack F....> ;Circulation. 2005 Sep 13
• 22 citations
  Genetics of inherited cardiomyopathies.
  Karla R. Bowles, Neil E. Bowles> ;Expert Review of Cardiovascular Therapy. 2004 Sep 1
• 59 citations
  Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, α-dystrobrevin and FK Binding Protein-12
  Alexander B. Kenton, Ximena Sanchez, Karen J. Coveler, Kimberly A Makar, Shinawe Jimenez, Fukiko Ichida, Ross T. Murphy, Perry M. Elliott, William J. McKenna, Neil E. ...> ;Molecular Genetics and Metabolism. 2004 Jun 1
• 375 citations
  Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
  Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez, Ximena Sanchez, Georgine Faulkner, Zeev Perles, Gianfranco Sinagra, Jiuann Huey Lin, Thuy M. Vu, Qiang Zhou, Karl...> ;Journal of the American College of Cardiology. 2003 Dec 3
• 201 citations
  Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
  Bhagyalaxmi Mohapatra, Shinawe Jimenez, Jiuann Huey Lin, Karla R. Bowles, Karen J. Coveler, Joseph G. Marx, Michele A Chrisco, Ross T. Murphy, Paul R. Lurie, Robert J....> ;Molecular Genetics and Metabolism. 2003 Sep 1
• 416 citations
  Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults.
  Neil E. Bowles, Jiyuan Ni, Debra L. Kearney, Matthias Pauschinger, Heinz-Peter Schultheiss, Robert E. Mccarthy, Joshua M. Hare, J. Timothy Bricker, Karla R. Bowles, Je...> ;Journal of the American College of Cardiology. 2003 Aug 6
• 96 citations
  Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
  Rui Chen, Tohru Tsuji, Fukiko Ichida, Karla R. Bowles, Xianyi Yu, Sayaka Watanabe, Keiichi Hirono, Shinichi Tsubata, Yuji Hamamichi, Jun Ohta, Yasuharu Imai, Neil E. B...> ;Molecular Genetics and Metabolism. 2002 Dec 1
• 376 citations
  Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
  Fukiko Ichida, Shinichi Tsubata, Karla R. Bowles, Noriyuki Haneda, Keiichiro Uese, Toshio Miyawaki, W. Jeffrey Dreyer, John Messina, Hua Li, Neil E. Bowles, Jeffrey A....> ;Circulation. 2001 Mar 6
• 237 citations
  Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
  Shinichi Tsubata, Karla R. Bowles, Matteo Vatta, Carmelann Zintz, Jack Titus, Linda Muhonen, Neil E. Bowles, Jeffrey A. Towbin> ;The Journal of Clinical Investigation. 2000 Sep 1
• 31 citations
  Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes.
  Karla R. Bowles, Sherin E. Abraham, Ramon Brugada, Carmelann Zintz, James Comeaux, Dan Sorajja, Shinichi Tsubata, Hua Li, Lois Brandon, Richard A. Gibbs, Steve Scherer...> ;Genomics. 2000 Jul 15
• Join now to see all