K. Bowles

发表

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

G. Valle, J. Towbin, A. di Lenarda, 2003, Journal of the American College of Cardiology.

Viral genomic detection and outcome in myocarditis.

J. Towbin, N. Bowles, K. Bowles, 2005, Heart failure clinics.

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

J. Towbin, P. Elliott, N. Bowles, 2004, Molecular genetics and metabolism.

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

J. Towbin, M. Vatta, N. Bowles, 2000, The Journal of clinical investigation.

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

A. Gutin, B. Morris, K. Bowles, 2016, BMC Genetics.

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically

S. Manley, H. Cox, Debora Mancini-DiNardo, 2019, Human mutation.

Viral epidemiologic shift in inflammatory heart disease: the increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients.

J. Towbin, W. Dreyer, N. Bowles, 2010, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transplant recipients.

J. Towbin, W. Dreyer, N. Bowles, 2010, Journal of the American College of Cardiology.

Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy

J. Towbin, N. Bowles, S. Abraham, 1999, Human Genetics.

Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults.

J. Towbin, N. Bowles, J. Hare, 2003, Journal of the American College of Cardiology.

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.

J. Towbin, Rui Chen, N. Bowles, 2002, Molecular genetics and metabolism.

Intrafamilial variability of noncompaction of the ventricular myocardium.

J. Towbin, R. Gilkeson, B. Hoit, 2006, American heart journal.

Severe Ostial Saphenous Vein Graft Disease Leading to Acute Coronary Syndromes After Proximal Aorto-Saphenous Anastomoses With The Symmetry Bypass Connector Device

J. Towbin, M. Vatta, N. Bowles, 2016 .

Novel Gene Mutations in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity

J. Towbin, I. Hashimoto, N. Bowles, 2007 .

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

L. Shaffer, J. Towbin, N. Bowles, 1999, Human Genetics.

Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis

J. Towbin, W. Craigen, W. Decker, 1999, Mammalian Genome.

Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes.

S E Scherer, R A Gibbs, R. Gibbs, 2000, Genomics.

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

J. Towbin, W. Dreyer, N. Bowles, 2001, Circulation.

Identification of pathogenic retrotransposon insertions in cancer predisposition genes.

H. Cox, T. Judkins, Debora Mancini-DiNardo, 2017, Cancer genetics.

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

D. Pruss, R. Byrd, L. Tessarollo, 2012, Human molecular genetics.

Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

R. Wenstrup, P. J. Vail, A. van Kan, 2015, Clinical genetics.

A comprehensive laboratory‐based program for classification of variants of uncertain significance in hereditary cancer genes

D. Pruss, S. Manley, L. A. Burbidge, 2014, Clinical genetics.

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel

Karla Bowles, Satish Bhatnagar, J. Garber, 2015, Cancer.

The “Final Common Pathway” Hypothesis and Inherited Cardiovascular Disease The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy

Neil E. Bowles, Jeffrey A. Towbin, J. Towbin, 2000, Herz.

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes

D. Pruss, A. Gutin, R. Wenstrup, 2014, Breast Cancer Research and Treatment.

BRCA1 and BRCA2 Testing in Inherited Breast Cancer

K. Bowles, E. Rosenthal, 2014 .

Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period

D. Pruss, S. Manley, Ranjula Wijayatunge, 2020, JCO precision oncology.

Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.

S. Manley, Erin Mundt, K. Brown, 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

R. Schwartz, J. Towbin, P. Elliott, 2003, Molecular genetics and metabolism.

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

S. Syngal, R. Wenstrup, M. Yurgelun, 2015, Gastroenterology.

Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.

H. Cox, T. Judkins, Debora Mancini-DiNardo, 2019, Future oncology.

T E C H N I C a L a D V a N C E Open Access

Satish Bhatnagar, N. Gutin, T. Judkins, 2022 .

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

A. Gutin, B. Morris, K. Bowles, 2016, BMC Genetics.

Genetics of inherited cardiomyopathies

N. Bowles, K. Bowles, 2004, Expert review of cardiovascular therapy.

Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome

H. Cox, M. Landon, Debora Mancini-DiNardo, 2023, Frontiers in Oncology.

Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis

B. Roa, Erin Mundt, K. Brown, 2021, Familial cancer.

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

J. Towbin, R. Roberts, L. Bachinski, 1996, The Journal of clinical investigation.

Mutations in the Human δ-Sarcoglycan Gene in Familial and Sporadic Dilated Cardiomyopathy, a Disease of the Cytoskeleton and Sarcolemma

J. Towbin, M. Vatta, N. Bowles, 2000 .

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

Toshio Miyawaki, Rui Chen, Noriyuki Haneda, 2005, Molecular genetics and metabolism.

Etiologies of cardiomyopathy and heart failure

J. Towbin, N. Bowles, K. Bowles, 1999, Nature Medicine.

Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children

J. Towbin, S. Fernbach, W. Dreyer, 2005, Circulation.

Prospects for gene therapy for inherited cardiomyopathies.

J. Towbin, Towbin, K. Bowles, 2000, Progress in pediatric cardiology.