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Patients
I need help with…
Understanding hereditary cancer risk
What is my risk of developing hereditary cancer?
Treating cancer
What are my treatment options?
Prenatal care
Is my baby at risk for a genetic condition?
Managing mental health
How might my genes affect my medication outcomes?
(sidebar parent)
About genetic testing
What are the costs of genetic testing?
Financial assistance
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How does genetic testing work?
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Prostate Cancer
What are my treatment options?
Providers
My patient needs a test for…
Assessing hereditary cancer risk
What is my patient’s risk of developing hereditary cancer?
Cancer treatment
What is the best treatment for my patient?
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What is a pregnancy’s risk of genetic disease?
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How will my patient metabolize or respond to certain medications?
(sidebar parent)
About our tests
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Presentations
Posters
Title
Author
Journal
Publication Date
Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk
Gregory Idos
JCO Precision Oncology
03-28-2019
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
D. Mancini-DiNardo, T. Judkins, N. Woolstenhulme, C. Burton, J. Schoenberger, M. Ryder, A. Murray, N. Gutin, A. Theisen, J. Holladay, J. Craft, C. Arnell, K. Moyes, B. Roa
J. Exp. Clin. Cancer Res.
09-11-2014
Title
Author
Journal
Publication Date
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing
Thomas Slavin
Cancer Genetics
04-13-2019
Title
Author
Journal
Publication Date
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
T. Judkins, B. Leclair, K. Bowles, N. Gutin, J. Trost, J. McCulloch, S. Bhatnagar, A. Murray, J. Craft, B. Wardell, M. Bastian, J. Mitchell, J. Chen, T. Tran, D. Williams, J. Potter, S. Jammulapati, M. Perry, B. Morris, B. Roa, K. Timms
BMC Cancer
04-02-2014
Title
Author
Journal
Publication Date
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle
Karla Bowles
Future Oncology
08-16-2018
Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
Eric Rosenthal
Cancer Genetics
09-25-2017
Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women
Allison Kurian
JCO Precision Oncology
06-27-2017
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel
Bradford Coffee, Hannah C. Cox, John Kidd, Scott Sizemore, Krystal Brown, Susan Manley, Debora Mancini-DiNardo
Cancer Genetics
01-16-2017
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes
Saundra S. Buys, John F. Sandbach, Amanda Gammon, Gayle Patel, John Kidd, Krystal L. Brown, Lavania Sharma, Jennifer Saam, Johnathan Lancaster, Mary B. Daly
Cancer
01-13-2017
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes
Iain D. Kerr, Hannah C. Cox, Kelsey Moyes, Brent Evans, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Krystal L. Brown, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Aaron Theisen, Erin Mundt, Richard J. Wenstrup, Julie M. Eggington
Journal of Community Genetics
01-03-2017
Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing
Eric T. Rosenthal, Brent Evans, John Kidd, Krystal Brown, Heidi Gorringe, Michael van Orman, Susan Manley
Journal of the American College of Radiology
12-20-2016
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
Brian Morris, Elisha Hughes, Eric Rosenthal, Alexander Gutin, and Karla R. Bowles
BMC Genetics
07-01-2016
Title
Author
Journal
Publication Date
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes
Shannon Gallagher
JAMA Network Open
07-01-2020
Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant
Paola Nix
JCO Precision Oncology
06-24-2020
Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk
Elisha Hughes
JCO Precision Oncology
06-08-2020
Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer
Allison W Kurian 1, Ryan Bernhisel 2, Katie Larson 2, Jennifer L Caswell-Jin 1, Aladdin H Shadyab 3, Heather Ochs-Balcom 4, Marcia L Stefanick 1
03-10-2020
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Debora Mancini-DiNardo 1, Thaddeus Judkins 2, John Kidd 2, Ryan Bernhisel 2, Courtney Daniels 2, Krystal Brown 2, Kirsten Meek 2, Jonathan Craft 2, Jayson Holladay 2, Brian Morris 2, Benjamin B Roa 2
10-17-2019
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically
Bradford Coffee 1, Hannah C Cox 1, Ryan Bernhisel 1, Susan Manley 1, Karla Bowles 1, Benjamin B Roa 1, Debora Mancini-DiNardo 1
09-23-2019
High risk of breast cancer in women with biallelic pathogenic variants in CHEK2
K Nones 1, J Johnson 2, F Newell 1, A M Patch 1, H Thorne 3, S H Kazakoff 1, X M de Luca 2, M T Parsons 4, K Ferguson 2, L E Reid 2, A E McCart Reed 2, S Srihari 5, V Lakis 1, A L Davidson 6, P Mukhopadhyay 1, O Holmes 7, Q Xu 7, S Wood 7, C Leonard 7, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB); J Beesley 8, J M Harris 9, D Barnes 10, A Degasperi 11, M A Ragan 12,
07-01-2019
Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting
Mark S DeFrancesco 1, Richard N Waldman, Melissa M Pearlstone, Dana Karanik, Ryan Bernhisel, Jennifer Logan, Lindsey Alico, Royce T Adkins
11-13-2018
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
Jacqueline Mersch 1, Nichole Brown 1, Sara Pirzadeh-Miller 1, Erin Mundt 2, Hannah C Cox 2, Krystal Brown 2, Melissa Aston 2, Lisa Esterling 2, Susan Manley 2, Theodora Ross 1
09-25-2018
Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain
I Esteban 1 2, M Vilaró 3, E Adrover 4, A Angulo 5, E Carrasco 1, N Gadea 6, A Sánchez 7, T Ocaña 7, G Llort 8, R Jover 9, J Cubiella 10, S Servitja 11, M Herráiz 12, L Cid 13, S Martínez 14, M J Oruezábal-Moreno 15, I Garau 16, S Khorrami 17, A Herreros-de-Tejada 18, R Morales 19, J M Cano 20, R Serrano 21, M H López-Ceballos 22, S González-Santiago 22, M J Juan-Fita 23, C Alonso-Cerezo 24, A Casas 25, B Graña 26, A Teulé 27, E Alba 28, A Antón 29, C Guillén-Ponce 30, A B Sánchez-H
03-26-2018
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
Kari G Chaffee 1, Ann L Oberg 1, Robert R McWilliams 2, Neil Majithia 2, Brian A Allen 3, John Kidd 3, Nanda Singh 3, Anne-Renee Hartman 3, Richard J Wenstrup 3, Gloria M Petersen 1
07-20-2017
Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing
Eric T Rosenthal 1, Brent Evans 2, John Kidd 2, Krystal Brown 2, Heidi Gorringe 2, Michael van Orman 2, Susan Manley 2
04-14-2017
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
Rachel Pearlman 1, Wendy L Frankel 2, Benjamin Swanson 2, Weiqiang Zhao 2, Ahmet Yilmaz 2, Kristin Miller 2, Jason Bacher 2, Christopher Bigley 1, Lori Nelsen 1, Paul J Goodfellow 3, Richard M Goldberg 1, Electra Paskett 1, Peter G Shields 1, Jo L Freudenheim 4, Peter P Stanich 5, Ilene Lattimer 1, Mark Arnold 6, Sandya Liyanarachchi 7, Matthew Kalady 8, Brandie Heald 8, Carla Greenwood 9, Ian Paquette 10, Marla Prues 11, David J Draper 12, Carolyn Lindeman 12, J Philip Kuebler 13, Kelly Reynold
04-01-2017
Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing
Serenedy Smith 1, Ingrid Marino 1, Jeanie Schaller 1, Christopher Arnell 1, Kelsey Moyes 1, Susan Manley 1
03-29-2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genes
Yaping Qian 1, Debora Mancini-DiNardo 1, Thaddeus Judkins 1, Hannah C Cox 1, Krystal Brown 1, Maria Elias 1, Nanda Singh 1, Courtney Daniels 1, Jayson Holladay 1, Bradford Coffee 1, Karla R Bowles 1, Benjamin B Roa 2
03-29-2017
Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer
Evelyn Kidess-Sigal 1 2, Haiyan E Liu 3, Melanie M Triboulet 2, James Che 3, Vishnu C Ramani 2, Brendan C Visser 2, George A Poultsides 2, Teri A Longacre 4, Andre Marziali 5, Valentina Vysotskaia 6, Matthew Wiggin 5, Kyra Heirich 2, Violet Hanft 2, Ulrich Keilholz 7, Ingeborg Tinhofer 8, Jeffrey A Norton 2, Mark Lee 9, Elodie Sollier-Christen 3, Stefanie S Jeffrey 2
12-20-2016
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort
Kari L Ring 1, Amanda S Bruegl 2, Brian A Allen 3, Eric P Elkin 3, Nanda Singh 3, Anne-Renee Hartman 3, Molly S Daniels 1, Russell R Broaddus 4
11-29-2016
Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
Michael Castro 1, Koah Vierkoetter 2, Douglas Prager 3, Shasta Montgomery 1, Kristin Sedgwick 4
07-21-2016
Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing
Kara N Maxwell 1, Steven N Hart 2, Joseph Vijai 3, Kasmintan A Schrader 4, Thomas P Slavin 5, Tinu Thomas 3, Bradley Wubbenhorst 6, Vignesh Ravichandran 3, Raymond M Moore 2, Chunling Hu 7, Lucia Guidugli 7, Brandon Wenz 6, Susan M Domchek 8, Mark E Robson 9, Csilla Szabo 10, Susan L Neuhausen 11, Jeffrey N Weitzel 5, Kenneth Offit 9, Fergus J Couch 7, Katherine L Nathanson 12
05-05-2016
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer
Nadine Tung 1, Nancy U Lin 2, John Kidd 2, Brian A Allen 2, Nanda Singh 2, Richard J Wenstrup 2, Anne-Renee Hartman 2, Eric P Winer 2, Judy E Garber 2
03-14-2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
https://pubmed.ncbi.nlm.nih.gov/25980754/
05-14-2015
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 1, Benoît Leclair 2, Karla Bowles 3, Natalia Gutin 4, Jeff Trost 5, James McCulloch 6, Satish Bhatnagar 7, Adam Murray 8, Jonathan Craft 9, Bryan Wardell 10, Mark Bastian 11, Jeffrey Mitchell 12, Jian Chen 13, Thanh Tran 14, Deborah Williams 15, Jennifer Potter 16, Srikanth Jammulapati 17, Michael Perry 18, Brian Morris 19, Benjamin Roa 20, Kirsten Timms 21
04-02-2015
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
E T Rosenthal 1, K R Bowles 1, D Pruss 1, A van Kan 1, P J Vail 1, H McElroy 1, R J Wenstrup 1
02-11-2015
Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis
Jennifer Saam 1, Kelsey Moyes, Michelle Landon, Kayon Williams, Rajesh R Kaldate, Christopher Arnell, Richard Wenstrup
12-11-2014
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study
David B Zhen 1, Kari G Rabe 2, Steven Gallinger 3, Sapna Syngal 4, Ann G Schwartz 5, Michael G Goggins 6, Ralph H Hruban 6, Michele L Cote 5, Robert R McWilliams 7, Nicholas J Roberts 8, Lisa A Cannon-Albright 9, Donghui Li 10, Kelsey Moyes 11, Richard J Wenstrup 11, Anne-Renee Hartman 11, Daniela Seminara 12, Alison P Klein 6, Gloria M Petersen 2
11-20-2014
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis
M Landon 1, S Ceulemans, D S Saraiya, B Strike, C Arnell, L A Burbidge, K Moyes, A Theisen, P H Fernandes, J Q Ji, B Abbott, R R Kaldate, B Roa
05-10-2014
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer
Priscilla H Fernandes 1, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Shelly Cummings, Aaron Theisen, Sonia Chen, Jeffrey Trost, Benjamin B Roa
01-10-2014
The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History
Fay Kastrinos, Ewout W. Steyerberg, Rowena Mercado, Judith Balmaña, Spring Holter, Steven Gallinger, Kimberly D. Siegmund, James M. Church, Mark A. Jenkins, Noralane M. Lindor, Stephen N. Thibodeau, Lynn Anne Burbidge, Richard J. Wenstrup, Sapna Syngal
Gastroenterology
11-01-2012
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome
Judith Balmaña, David H. Stockwell, Ewout W. Steyerberg, Elena M. Stoffel, Amie M. Deffenbaugh, Julia E. Reid, Brian Ward, Thomas Scholl, Brant Hendrickson, John Tazelaar, Lynn Anne Burbidge, Sapna Syngal
JAMA
09-27-2006
Title
Author
Conference
Publication Date
Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) model
Shannon Hughes
06-04-2020
Characteristics and Clinical Correlations of Likely Mosaic Large Rearrangements Identified by a Hereditary Pan-Cancer NGS Panel Test
Shujuan Pan
04-03-2019
Validation of a combined residual risk score for healthy unaffected women presenting to breast cancer screening centers
Kathryn Dalton
06-03-2018
Pheno Analysis is a Highly Accurate and Robust Variant Classification Algorithm with High Tolerance for Reported Clinical History Errors
Karla Bowles
05-09-2018
Title
Author
Conference
Publication Date
The Role of Allele-Specific RNA Analysis in Hereditary Cancer Variant Classification
Erin Mundt
11-17-2020
Multigene assessment of genetic risk for multiple primary breast cancers.
10-26-2020
Polygenic Breast Cancer Risk Modification in Carriers of High and Intermediate Risk Gene Mutations
Elisha Hughes
12-14-2019
Cancer risks associated with pathogenic variants in the ataxia telangiectasia mutated (ATM) gene
Michael Hall
12-13-2019
RNA Research Program Continues to be a Valuable Tool in Variant Reclassification
Susana San Roman
11-05-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations
Katie Johansen Taber
11-05-2019
A Novel Pathogenic Variant in APC Intron 14 Contributing to FAP
Maria Elias
11-03-2019
Case of a synonymous variant in MLH1 with clinical significance
Lindsay Kipnas
11-03-2019
Functional classification of selected exonic splicing variants occurring outside of 5’ and 3’ exon boundaries in cancer-predisposing genes
Paola Nix
10-17-2019
Common variants in PMS2CL that can present in PMS2 as pathogenic variants with extremely low frequencies
Shuiuan Pan
10-16-2019
Preventive Surgery after Multiplex Genetic Panel Testing (MGPT)
Gregory Idos
06-03-2019
Hereditary Cancer Genetic Testing Among Patients with Pancreatic Cancer
Nassim Taherlan
06-03-2019
A novel method for unbiased risk prediction and its application to the combined residual
Elisha Hughes
05-07-2019
Cancer Phenotype of Biallelic CHEK2 Mutation Carriers
Irene Rainville
05-07-2019
Opportunity for Cancer Prevention: 1 in 4 Unaffected Women Meet Hereditary Cancer Testing Criteria
Leslie Bucheit
05-05-2019
Pan-Cancer Panel Testing: Variation in Testing and Results by Ancestry
Eva Chalas
05-05-2019
Clinical Utility of Testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D Management Changes and Patient Adherence to Provider Recommendations
Katie Johansen Taber
04-03-2019
Genetic Testing Contributes Significantly to Improved Identification of Women Eligible for Increased Breast Cancer Screening Compared to Remaining Lifetime Risk Models Alone
Heidi Gorringe
12-07-2018
Development and Validation of a Polygenic Score to Predict Breast Cancer Risk in Unaffected Hispanic Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
12-07-2018
Associations between Clinical Factors in v7.02 of the Tyrer-Cuzick Model and a SNP-Based European Ancestry Residual Risk Score
Elisha Hughes
12-07-2018
Defining the spectrum of germline variants among African American patients with triple negative breast cancer
Holly Pederson
12-05-2018
Promoting Breast Cancer Screening after Multiplex Genetic Testing and Genetic Counseling
Gregory E. Idos, MD
06-02-2018
Promoting Colorectal Cancer Screening after Multiplex Genetic Testing and Genetic Counseling
Gregory E. Idos, MD
06-02-2018
Comparison of Cancer Risks in Truncating versus Missense Pathogenic CHEK2 Variants
Erin Mundt
05-10-2018
Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk
Elisha Hughes
05-09-2018
Performance of current Hereditary Breast and Ovarian Cancer (HBOC) testing criteria for the detection of carriers of pathogenic variants in clinically significant breast cancer risk genes other than BRCA1/2
Eric Rosenthal
05-09-2018
Families with a Known Mutation in a Cancer Predisposition Gene: Is Single Site Testing Always the Best Option for Relatives?
Jamie Willmott
05-09-2018
Hereditary Cancer Genetic Testing in Community-Based Obstetrics and Gynecology Settings
Mark DeFrancesco
04-28-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
04-20-2018
Mosaic Deletion of the APC Gene is Associated with an Increased Risk of Hematological Malignancy
Heather LaBreche
04-13-2018
Variant Interpretation when Multiple Amino Acid Changes are Present at the Same Codon Position
Matthew Comeaux
04-12-2018
Evaluation Of Data Quality In Public Databases Is Critical Before Its UseAs Evidence In Clinical Variant Classification
Hannah Cox
04-12-2018
Inherited Germline Mutations in Men with Prostate Cancer
Robert Reid
02-09-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
12-06-2017
Spectrum of Pathogenic Variants in the Juvenile Polyposis Genes SMAD4 and BMPR1A Using a Multi-Gene Hereditary Cancer Panel
Melanie Jones, Kaylee Henson, Ryan Bernhisel, Michelle Landon, Bradford Coffee
10-20-2017
Genetic Testing Outcomes in Patients with Abnormal Immunohistochemistry (IHC) Staining of the Mismatch-Repair (MMR) Proteins
Shujuan Pan, Hannah C. Cox, Krystal Brown, Erin Mundt, Michelle Landon, Jamie Willmott, Heidi Gorringe, Karla Bowles, Bradford Coffee, Debora Mancini-DiNardo
10-20-2017
The Prevalence of Mosaicism in Common Cancer Susceptibility Genes from 232,328 Individuals Undergoing Sequential Testing
Thomas P. Slavin, Bradford Coffee, Hannah C. Cox, Ryan Bernhisel, Krystal Brown, Guido Marcucci, Jeffrey Weitzel, Susan L. Neuhausen, Debora Mancini-DiNardo
10-19-2017
Large Rearrangement Analysis in GREM1 and the Identification of Novel Deletions and Duplications
Debora Mancini-DiNardo, Erin Mundt, Thaddeus Judkins, Jayson Holladay, Karla R. Bowles, Benjamin B. Roa
10-18-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi‐Gene Hereditary Cancer Panel
Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Eric Rosenthal, Richard Wenstrup, Jerry S Lanchbury, Alexander Gutin
09-15-2017
Variant Reclassification in a Clinical Cohort: A Decade of Experience
Jacqueline Mersch, Nichole Brown, Sara Pirzadeh-Miller, Erin Mundt, Hannah C Cox, Melissa Aston, Krystal Brown, Lisa Esterling, Susan Manley, Theodora Ross
09-15-2017
Performance of NCCN Guidelines in Identifying Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Results from a Large Cohort Study
Julie O. Culver, Charite Ricker, Duveen Sturgeon, Katherine Roth, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Alexandra Lebensohn, Courtney Rowe-Teeter, Peter Levonian, Kate Partynski, Karlena Lara-Otero, Christine Hong, Meredith A. Mills, Anne-Renee Hartman, Brian Allen, Krystal Brown, Kevin McDonnell , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison Kurian, Gregory Idos
09-15-2017
Multi-Gene Hereditary Cancer Testing among Men with Breast Cancer
Krystal Brown, Gregory Calip, Ryan Bernhisel, Brent Evans, Eric Rosenthal, Jennifer Saam,Johnathan Lancaster, Kent Hoskins
06-05-2017
Quantifying Gender Ascertainment Bias in Hereditary Cancer Testing
Anthony Chen, Allison Anguiano, Ryan Bernhisel, Krystal Brown, Heidi Gorringe, Susan Manley
06-05-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Richard Wenstrup, Jerry S. Lanchbury, Alexander Gutin
06-05-2017
Performance of Mutation Risk Prediction Models in a Racially Diverse Multi-Gene Panel Testing Cohort
Gregory E. Idos, Katherine Roth, Leah Naghi, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicollette M. Chun, Courtney Rowe-Teeter, Anne-Renee Hartman, Brian Allen, Brent Evans, Meredith Mills, Christine Hong, Kevin Mcdonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison W. Kurian
06-05-2017
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models
Gregory E. Idos, Allison W. Kurian, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicolette M. Chun, Courtney Rowe-Teeter, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith Mills, Cindy Ma, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber
06-05-2017
Safety of Multiplex Gene Testing for Inherited Cancer Risk in a Fully Accrued Prospective Trial
Allison W. Kurian, Gregory Idos, Charité Ricker, Julie Culver, Duveen Sturgeon, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Courtney Rowe-Teeter, Katlyn Partynski, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith A. Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, and Stephen B. Gruber
06-05-2017
Prevalence and Characterization of Triplications in Genes Associated with Hereditary Cancers
eather G. LaBreche, Alison Brown, Thaddeus Judkins, Karla Bowles, Bradford Coffee
03-24-2017
Complexities in Hereditary Cancer Variant Classification: Three Case Examples
Erin Mundt, ; Paola Nix, Karla Bowles, Susan Manley
03-24-2017
Apparent Gene Conversion Event Detected in CHEK2 using Next Generation Sequencing Analysis
Shujuan Pan, Alison Brown, Jack Landon, Thaddeus Judkins, Irene Elliott, Matthew Comeaux, Karla Bowles, Debora Mancini-DiNardo
03-24-2017
Case Report: Sub-Clinical Fanconi Anemia in Siblings with Biallelic BRIP1 Mutations
Jamie Willmott, Maria Elias, Bryan Warf, Heidi Gorringe, Susan Manley
03-24-2017
A Significant Proportion of TP53 Pathogenic Variants Detected with a Hereditary Pan-Cancer NGS Panel Are Somatically Acquired
Bradford Coffee, Debora Mancini-DiNardo, Hannah C. Cox, Ryan Bernhisel, Susan Manley, Karla Bowles, Benjamin B. Roa
03-23-2017
A description of women with the pathogenic variants in the ovarian cancer risk genes BRIP1, RAD51C, RAD51D identified through clinical testing with a hereditary cancer panel
Lydia Usha, Susana San Roman, Heidi Gorringe, Ryan Bernhisel, Krystal Brown, Jennifer Saam, Susan Manley
03-15-2017
Genetic Testing for HBOC among Women with a Personal Diagnosis of Breast Cancer in Patients with Medicaid as Compared to Patients with Private Insurance
Paul Baron, Kisha Johnson-Isidore, Lisa Miller, Krystal Brown, John Kidd, Jennifer Saam
12-08-2016
Trends in Age of Breast Cancer Diagnosis for Women with Pathogenic Variants in Genes Associated with Increased Breast Cancer Risk
Heidi Gorringe, Eric Rosenthal, John Kidd, Ryan Bernhisel, Krystal Brown, Susan Manley
12-08-2016
NGS Facilitates Identification of Retrotransposon Insertional Mutations in Hereditary Cancer Genes
Y Qian, D. Mancini‐DiNardo, H.C. Cox, T. Judkins, M. Elias, N. Singh, K. Brown, B. Coffee, K. Bowles, B. Roa
10-20-2016
PMS2CL‐hybrid alleles containing PMS2 sequence and other PMS2CL‐derived large rearrangements: The importance of correct interpretation of dosage alteration analysis in PMS2
N. Singh, D. Mancini‐DiNardo, B. Leclair, K. Brown, E. Goossen, K. Bowles, B. Roa, M. Jones
10-20-2016
Characterization of TP53 Sequencing Variants Initially Detected in Peripheral Blood using NGS Analysis
Debora Mancini-DiNardo, Bradford Coffee, Hannah C. Cox, Krystal Brown, Susan Manley, Karla R. Bowles, Benjamin B. Roa
10-19-2016
Diagnostic Detection, Characterization & Classification of Partial Single Exon Large Rearrangements in Hereditary Cancer Genes
Benjamin B. Roa, Priscilla H. Fernandes, Brian Morris, Debora Mancini-DiNardo, Karla R. Bowles
10-19-2016
Prevalence of Monoallelic MUTYH Carrier Status in Patients of Varied Ancestries Ascertained for Clinical Hereditary Cancer Risk Testing
Brandie Leach, Eric Rosenthal, John Kidd, Krystal Brown, Heidi Gorringe, Susan Manley
10-03-2016
Unsuspected Lynch Syndrome due to Pathogenic Variants in MSH6 and PMS2
Eric Rosenthal, Jamie Willmott, John Kidd, Susan Manley
10-03-2016
Ancestry-Based Cancer Risks Associated with APC I1307K
Lavania Sharma, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Brandie Leach
09-30-2016
Average Age of Diagnosis of Ovarian Cancer for Women with Pathogenic Variants in BRIP1, RAD51C and RAD51D
Susana San Roman, Heidi Gorringe, Jennifer Saam, John Kidd, Susan Manley, Lydia Usha
09-30-2016
Identification of APC I1307K Among a Cohort of Patients Undergoing a Pan‐Cancer Gene Panel: Analysis of Ancestry‐Based Cancer History
Brandie Leach, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Lavania Sharma
09-29-2016
Favorable Psychosocial Outcomes in Higher or Moderate Risk Mutation Carriers Identified by Hereditary Cancer Panel Testing
Julie Culver, Charite Ricker, Allison W. Kurian, Rachel B. Koff, Duveen Sturgeon, Katrina Lowstuter, Christine Hong, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Alexandra Lebensohn, Nicolette M. Chun, Peter Levonian, Iva M. Petrovchich, Meredith A. Mills, Kevin McDonnel , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Gregory Idos
09-29-2016
Prevalence of germline cancer susceptibility gene mutations in a clinic-based series of colorectal cancer patients
Matthew B. Yurgelun, Brian Allen, Lauren K. Brais, Philip G. McNamara, Chinedu I. Ukaegbu, Hajime Uno, John Kidd, Nanda Singh, Jason L. Hornick, Richard J. Wenstrup, Charles S. Fuchs, Matthew H. Kulke, Anne-Renee Hartman, Sapna Syngal
06-07-2016
Safety of Multiplex Gene Testing for Inherited Cancer Risk: Interim Analysis of a Clinical Trial
Allison W. Kurian, Gregory Idos, Julie Culver, Charite Ricker, Rachel Koff, Duveen Sturgeon, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Courtney Rowe-Teeter, Kerry Kingham, Nicolette Chun, Iva Petrovchich, Meredith Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James Ford, and Stephen Gruber
06-07-2016
Detection of Somatic Variants in Peripheral Blood Lymphocytes Using a 25-Gene Hereditary Cancer Panel
Bradford Coffee, Hannah C. Cox, Scott Sizemore, Susan Manley, Debora Mancini-DiNardo
06-06-2016
Magnitude of Invasive Breast Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women
Michael J. Hall, Elisha Hughes, Elizabeth A. Handorf, Alexander Gutin, Brian Morris, Brian Allen, Anne-Renee Hartman, Allison W. Kurian
06-06-2016
Ovarian Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women
Allison W. Kurian, Elisha Hughes, Elizabeth Handorf, Alexander Gutin, Brian Allen, Anne-Renee Hartman, Michael J. Hall
06-06-2016
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models
Gregory E Idos, Allison W Kurian, Charité Ricker , Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Kerry Kingham, Rachel Koff, Courtney-Rowe Teeter, Nicolette M. Chun , Meredith Mills, Iva Petrovchich, Christine Hong, John Kidd, Kevin McDonnell, Uri Ladabaum, James M Ford, Stephen B Gruber
06-06-2016
Genetic heterogeneity and survival among pancreatic adenocarcinoma (PDAC) patients with positive family history
Kari G. Chaffee, Robert R. McWilliams, Neil Majithia, Brian A. Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Ann L. Oberg, Gloria M. Petersen
06-04-2016
Enhancement of History Weighting Analysis to Accurately Classify Variants in High and Moderate Risk Cancer Panel Genes
Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Priscilla H. Fernandes, Benjamin B. Roa, Alexander Gutin
05-12-2016
Genetic Testing of Individuals Diagnosed with Breast or Ovarian Cancer who Meet Testing Guidelines: Trends in Utah, 2008-2012
S. Colonna, W. Kohlmann, S. Edwards, A. Gammon, J. Saam, C. Roundy, C. Sweeney, K. Herget, A. Fraser, S. Buys
05-12-2016
Outcomes of Chromosome Breakage Analysis as a Tool for BRCA2 Variant Reclassification
Erin Mundt, Heather McElroy, Paris Vail, Lisa Esterling, Susan B. Olson, Susan Manley
05-12-2016
Structural Biology in Variant Classification
Iain D. Kerr, Paola Nix, Lisa Esterling, Karla R. Bowles, Benjamin B. Roa, Susan Manley
05-12-2016
Are Cancer Risks for the CHEK2 Founder Mutation c.1100del Applicable to Other Pathogenic Variants in CHEK2?
Amanda Gammon, John Abernethy, Eric Rosenthal, Heidi Gorringe, Krystal Brown, John Kidd, Susan Manley
05-11-2016
RNA Research Program To Aid In The Reclassification Of Genetic Variants That Alter Splicing
M.Bryan Warf, Elizabeth Goossen, Jamie Willmott, Susana San Roman, Michelle Landon, Karla R. Bowles, Benjamin B. Roa
05-11-2016
Prevalence of BRCA1/2-Negative Women Who Qualify for Adjunctive Breast MRI Screening
Heidi Gorringe, Eric Rosenthal, Michael Van Orman, John Kidd, Krystal Brown, Royce T. Adkins
04-11-2016
Reclassification of Uncertain Variants Identified in High and Moderate Cancer Risk Genes Using History Weighting Analysis
Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Benjamin B. Roa, Alexander Gutin
03-11-2016
Detailed Review of Four Patients Affected with Cancer that were Previously Unaffected at the Time of Single Syndrome Testing and Subsequently had Pathogenic Variants Identified by a 25-Gene Panel
Allison Anguiano, Heidi Gorringe, John Kidd, Krystal Brown, Susan Manley
03-10-2016
Characterization of Li-Fraumeni syndrome diagnosed using a 25-gene hereditary cancer panel
Robert Lufkin, Thereasa Rich, Marianne Lotito, John Kidd, Jennifer Saam, Johnathan Lancaster
12-11-2015
Multiplex Identification of genetic etiologies among women with bilateral breast cancer using a 25-gene hereditary cancer panel
Jeffrey N Weitzel, Kathleen R Blazer, Bita Nehoray, John Kidd, Thomas P Slavin Jr., Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam, Johnathan Lancaster
12-11-2015
The Patient Experience in a Prospective Trial of Multiple-Gene Panel Testing for Cancer Risk
Allison W. Kurian, Gregory Idos, Kevin McDonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstutter, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Rachel B. Koff, Alexandra Lebensohn, Nicolette M. Chun, Iva M. Petrovchich, Meredith A. Mills, Christine Hong, Uri Ladabaum, James M. Ford, Stephen B. Gruber
12-10-2015
Interim Analysis of Multiplex Gene Panel Testing for Inherited Susceptibility to Breast Cancer
Gregory E Idos, Allison W Kurian, Kevin Mcdonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Courtney-Rowe Teeter, Kerry Kingham, Rachel Koff, Alexandra Lebensohn, Nicollette M. Chun, Meredith Mills, Iva Petrovchich, Christine Hong, Uri Ladabaum, James M Ford, Stephen B Gruber
12-10-2015
Predisposing Germline Mutations in an Unselected Academic Breast Cancer (BC) Cohort
Judy E Garber, Nadine M Tung, Eric P Elkin, Brian A Allen, Nanda U Singh, Richard Wenstrup, Anne-Renee Hartman, Eric P Winer, Nancy U Lin
12-09-2015
Identification of a Recurrent Pathogenic Variant in BRIP1
Susana San Roman, Eric Rosenthal, John Kidd, Susan Manley
10-23-2015
Outcomes of multi-gene testing for inherited cancer risk in patients of varied ancestries
Eric Rosenthal, Heidi McCoy, John Kidd, Krystal Brown, Susan Manley
10-23-2015
Pedigree modeling demonstrates that family history performs poorly for the identification of women with inherited risks for breast cancer
Hannah C Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B Roa, Karla R Bowles
10-22-2015
Hereditary Cancer Testing in Patients of Ashkenazi Jewish Ancestry in the Era of Panel Testing
Janice Rinsky, Michelle Landon, John Kidd, Krystal Brown, Eric Rosenthal, Susan Manley
10-22-2015
Pathogenic mutations identified in patients with 6 or more colon polyps
Kim Grace, Brandie Leach, John Kidd, Jennifer Saam, Johnathan Lancaster
10-22-2015
GI Gap in Genetic Testing for Inherited Susceptibility to Colorectal Cancer
GE Idos, AW Kurian, KJ Mcdonnell, CN Ricker, DY Sturgeon, JO Culver, K Lowstuter, AR Hartman, B Allen, CR Teeter, KE Kingham, R Koff, A Lebensohn, NM Chun, MA Mills, C Hong, U Ladabaum, JM Ford, SB Gruber
10-16-2015
Clinical Presentations of Patients and Families Identified with Pathogenic Variants in CDH1
Daphne Chen, Eric Rosenthal, Jennifer Saam, John Kidd, Rick Wenstrup
10-14-2015
Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment
H. C. Cox, E. Rosenthal, Y. Qian, B. Coffee, R. Wenstrup, B. B. Roa, K. R. Bowles
10-09-2015
Examining severity of cancer history in patients with pathogenic variants in ATM
John Abernethy, Eric Rosenthal, John Kidd, Paris Vail, Susan Manley
10-08-2015
Detection of Large Rearrangements in a Pan-cancer Gene Panel using Next Generation Sequencing
Debora Mancini-DiNardo, Thaddeus Judkins, Courtney Daniels, Jonathan Craft, Jayson Holladay, Benjamin B. Roa
10-08-2015
Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases
Lisa Esterling, Dru DiFrancesco, Paola Nix, Jean-Paul De La O, Bradford Coffee, Susan Manley
10-08-2015
Analytical validation of a saliva collection and DNA extraction protocol increases accessibility to hereditary pan-cancer panel testing
Jared Cassiano, Jack Landon, Elizabeth Goossen, Debora Mancini-DiNardo, Benoît Leclair, Benjamin B. Roa
10-08-2015
Identification of Retrotransposon Insertion Mutations in Hereditary Cancer
Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hanna C. Cox, Courtney Daniels, Jayson Holladay, Matthew Ryder, Bradford Coffee, Karla R. Bowles, Benjamin B. Roa
10-08-2015
RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing
M.B. Warf, E. Goosen, D. Mancini-DiNardo, J. Willmott, Y. Qian, M. Landon, K. Rushton, K.R. Bowles, B.B. Roa
10-07-2015
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer
Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Krystal Brown, Karen Copeland, Jennifer Saam, Michelle Landon, Richard Wenstrup
06-09-2015
Outcomes of Clinical Testing for 76,000 Patients Utilizing a Panel of 25 Genes Associated with Increased Risk for Breast, Ovarian, Colorectal, Endometrial, Gastric, Pancreatic, Melanoma, and Prostate Cancers
Eric T. Rosenthal, Krystal Brown, John Kidd, Heidi McCoy, Brent Evans, Jennifer Saam, Susan Manley, Richard J. Wenstrup
06-01-2015
Assessment of the Clinical Presentation of Patients with at Least Two Pathogenic Mutations on Multigene Panel Testing
Jeffrey N. Weitzel, Kathleen R. Blazer, Bita Nehoray, John Kidd, Thomas P. Slavin, Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam
06-01-2015
A Study of Triple-Negative Breast Cancer Patients Tested with a 25-Gene Panel of Hereditary Cancer Genes
John F. Sandbach, Gayle Patel, Elisabeth King, Brent Evans, John Kidd, Lucy R. Langer, Krystal Brown, Richard J. Wenstrup, Jennifer Saam
06-01-2015
Multi-Gene Panel Testing in an Unselected Endometrial Cancer Cohort
Kari L. Ring, Amanda S. Bruegl, Brian A. Allen, Eric P. Elkin, Nanda Singh, Anne-Renee Hartman, Russell R. Broaddus
06-01-2015
CDKN2A Pathogenic Variants Identified in Patients Tested with a 25-Gene Hereditary Cancer Panel
John Abernethy, Eric Rosenthal, John Kidd, Heidi McCoy, Susan Manley
03-27-2015
Development of a Novel History Weighting Algorithm for the Reclassification of Genetic Variants Identified in Genes Associated with Lynch Syndrome
Karla R. Bowles, Brian Morris, Elisha Hughes, M. Bryan Warf, Richard Wenstrup, Benjamin B. Roa, Dmitry Pruss
03-27-2015
Utilization of Mutation Co-Occurrence (MCO) Analysis as Evidence for Benign and Likely Benign Variant Classification
Bradford Coffee, Dmitry Pruss, Brian Morris, Elisha Hughes, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles
03-27-2015
Validation of Utilizing In Trans Co-Occurrence or Homozygosity to Downgrade the Classification of Genetic Variants in the BRCA1, BRCA2 and Lynch Syndrome Genes
Priscilla H. Fernandes, Maria C. Elias, Lisa Esterling, Bradford Coffee, Benjamin B. Roa, Karla R. Bowles
03-26-2015
Dosage Analysis by Next Generation Sequencing and Microarray CGH Indicates Putative Processed Pseudogenes in SMAD4 and NBN
Debora Mancini-DiNardo, Thad Judkins, Maria C. Elias, Courtney Daniels, Ammon Marshall, Jayson Holladay, Yaping Ryan Qian, Benjamin Roa
03-26-2015
Experience in the Community Oncology Practice With a 25-Gene Hereditary Cancer Panel
Sami Diab, Patricia Rodriguez, Anna Leininger, Lisa Clark, Mike F. Janicek, Ellen B. Smith, John Sandbach, Jennifer Saam, Lucy Langer
12-12-2014
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer
Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Jennifer Saam, Michelle Landon, Richard Wenstrup
12-12-2014
Complexities in genetic testing for allogeneic bone marrow transplant recipients and patients with hematologic malignancies
Debora Mancini-DiNardo, Michelle Landon, Brian Abbott, Janice Rinsky, Maria Elias, Benjamin Roa
10-21-2014
The predictive power of breast cancer family history in the clinic
Hannah C. Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles
10-19-2014
Determining the clinical significance of BRCA1 and BRCA2 intronic and exonic splicing variants
Karla R. Bowles, Nanda Singh, Ulrike P. Kappes, Erin Mundt, Bryan Warf, Brian Morris, Dmitry Pruss, Benjamin B. Roa, Richard Wenstrup
09-18-2014
Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening
Eric Rosenthal, Heidi McCoy, Kelsey Moyes, Brent Evans, Richard Wenstrup
09-18-2014
A review of Lynch Syndrome patients with colon cancer with little or no family history by age: A diagnostic laboratories experience
Michelle Landon, Jennifer Saam, Brent Evans, Kelsey Moyes, Richard Wenstrup
09-15-2014
Clinical presentations of MMR mutation positive patients with no personal or family history of colon or endometrial cancer
Praveen Kaushik, Brent Evans, Kelsey Moyes, Michelle Landon, Jennifer Saam, Richard Wenstrup
09-15-2014
Analysis of Patients with Two Hereditary Cancers (Breast/Ovarian or Colon/Endometrial) Who Met NCCN Genetic Testing Criteria After Their First Cancer
Jennifer Saam, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rajesh R. Kaldate, Brian Strike, Kayon Williams, Lynn Anne Burbidge, Brian Abbott
06-02-2014
Evaluation of Breast Cancer Incidence in Lynch Syndrome Patients by MMR Gene
Jamie Willmott, Adam Johnson, Kelsey Moyes, Brent Evans, Christopher Arnell, Michelle Landon
06-01-2014
Impact of 25-gene panel testing and integrated risk management tool on medical management in hereditary cancer syndrome evaluation
Lucy R. Langer, Laurie Korst, Larry J. Geier, Jennifer Saam, Kelsey Moyes, Brent Evans, Lee S. Schwartzberg
06-01-2014
The Clinical Experience - Hereditary Cancer Testing by a 25-Gene Panel
Elias Obeid, Andrea D. Forman, Michael J. Hall, Veda N. Giri, Susan V. Montgomery, Kim L. Rainey, Christina R. Rybak, Kelsey Moyes, Jennifer Saam, Mary B. Daly
06-01-2014
A prospective evaluation of the feasibility of process engineering intervention on the screening and testing of Lynch syndrome in individuals with a personal and/or family history of Lynch-associated cancers
James A. DiSario, Daniel G. Luba, Colleen Rock, Devki Saraiya, Kelsey Moyes, Kristen Rushton, Maydeen M. Ogara, Mona Raphael, Dayna Zimmerman, Kimmie Garrido, Evelyn Silguero, Jonathan Nelson, Brian L. Abbott, Fay Kastrinos, Richard J. Wenstrup, Sapna Syngal
05-06-2014
Determining the Clinical Significance of Silent BRCA1 and BRCA2 Sequencing Variants
Karla R. Bowles, Brian Morris, Dmitry Pruss, Jack Ji, Nanda Singh, Benjamin B. Roa, Richard Wenstrup
03-28-2014
Align-GVGD, SIFT, Polyphen, MAPP-MMR, Grantham Analysis and Condel are Weak Predictors of the Clinical Significance for Missense Variants
Iain D. Kerr, Kelsey Moyes, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Richard J. Wenstrup , Julie M. Eggington
03-28-2014
Clinical Laboratory Review of the Prevalence and Clinical Presentation of Patients with Biallelic Mismatch Repair Mutations
Kim Grace, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup
03-28-2014
Assessment of Laboratory-Based Quality Control Processes to Ensure Appropriate Utilization of Genetic Testing for Hereditary Cancer Risk
Serenedy Smith, Eric Rosenthal, Jeanie Schaller, Christopher Arnell, Kelsey Moyes, Susan Manley
03-27-2014
Evaluating the Personal and Family History Overlap Between Hereditary Cancer Syndromes
Jennifer Saam, Christopher Arnell, Kelsey Moyes, Kirstin M. Roundy, Ingrid Marino, Richard J. Wenstrup
03-14-2014
Patients with lynch syndrome gene mutations exhibit overlapping phenotypes with AFAP and FAP
Erin Heckaman, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup
01-18-2014
A Clinical History Weighting Algorithm Accurately Classifies BRCA1 and BRCA2 Variants
Karla R. Bowles, Brian Morris, Elisha Hughes, Julie M. Eggington, Lisa Esterling, Brandon S. Robinson, Aric van Kan, Benjamin B. Roa, Eric Rosenthal, Alexander Gutin, Richard Wenstrup, Dmitry Pruss
10-25-2013
Clinical Presentation of Patients With Mutations in the APC Regions Associated With AFAP
Praveen Kaushik, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rick Wenstrup
10-25-2013
Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes
Benjamin Roa, Karla Bowles, Satish Bhatnagar, Natalia Gutin, Adam Murray, Bryan Wardell, Mark Bastian, Jeffrey Mitchell, Jian Chen, Thanh Tran, Deborah Williams, Jenny Potter, Srikanth Jammulapati, Michael Perry, Brian Morris, Kirsten Timms
10-24-2013
Prevalence of Lynch Syndrome Mutations in Patients With Colorectal and Endometrial Cancer Based on Decade of Diagnosis
Willonie Mendonca, Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian L. Abbott
10-11-2013
Overlap Between Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome Among Family Histories in Patients Tested for Hereditary Cancer Syndromes
Jennifer Saam, Chris Arnell, Kelsey Moyes, Ingrid Marino, Rick Wenstrup
10-07-2013
Mutation Breakdown and Variant Rates in Lynch Syndrome
Kim Grace, Jeanie Schaller, Julie Eggington, Kelsey Moyes, Christopher Arnell
10-07-2013
Prevalence of Lynch Syndrome and HBOC Among Patients with Primary Endometrial and Ovarian Cancers
Jessica N. Everett, Shanna L. Gustafson, Barbara A. Corey, Devki S. Saraiya, Elena M. Stoffel, Kelsey Moyes, Jennifer Saam, Brian Abbott, and Victoria M. Raymond
10-07-2013
MSI-High Histology is a Predictive Risk Factor for Lynch Syndrome
Brian Strike, Jennifer Saam, Michelle Landon, Kelsey Moyes, Brian Abbott
10-07-2013
Early Onset Colorectal and Endometrial Cancer Correlates With High Lynch Syndrome Mutation Rate But Mutation Rate Remains High Even in Patients Diagnosed in Their 50s and 60s
Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian Abbott
05-19-2013
Segregation Analysis Offers a Mechanism for Variant Reclassification in a Small Subset of Cases but is Especially Powerful in Classifying Deleterious Mutations
Julie Eggington, Jennifer Saam, Karla Bowles, Kelsey Moyes, Susan Manley, Lisa Esterling, Scott Sizemore, Christopher Arnell, Brandon Robinson, Eric Rosenthal, Jeremiah Bennett, Mark McKellar, Benjamin Roa and Richard Wenstrup
03-22-2013
Detection of Large Rearrangements in Hereditary Colorectal Cancer Using Microarray CGH
Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Natalia Gutin, Jayson Holladay, Jonathan Craft, Jeffrey Trost, Kelsey Moyes, Benjamin Roa
03-22-2013
Founder Mutation Versus Full sequencing of MYH for Increasing Clinical Sensitivity
Sophia Ceulemans, Christopher Arnell, Lynn Anne Burbidge, Kelsey Moyes, Brian Abbott, Rajesh R. Kaldate, Michelle Landon
01-25-2013
Detection of Large Rearrangements in BRCA1 and BRCA2 by Microarray-CGH
Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Marie Balzotti, Natalia Gutin, Jayson Holladay, Jonathan Craft, Carrie Colvin, Jeffrey Trost, Lynn Anne Burbidge, Christopher Arnell, Kelsey Moyes, Eric Rosenthal, Benjamin Roa
11-01-2012
Mutation Distribution and VUS Rates Among the Five Genes Currently Analyzed in Lynch Syndrome Testing
Jennifer Saam, Julie Eggington, Karla Bowles, Amanda Bodell, Lynn Anne Burbidge, Dmitry Pruss, Lisa Esterling, Benoît Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Richard Wenstrup, Benjamin Roa
10-01-2012
Mutation Analysis of PALB2 in Higher Risk and Lower Risk Patients Negative for BRCA1 and BRCA2 Mutations
Shelly Cummings, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Sonia Chen, Je rey Trost, Christopher Arnell, Benjamin B. Roa, Priscilla H. Fernandes
09-13-2012
Profiling Uptake of Single Site Testing (SST) for Familial Cancer (CA) Risk in an Administrative Genetic Testing Database
Michael J Hall, Katen C McCully, Karthik Devarajan, Rajesh R Kaldate, Mary B Daly
06-06-2012
Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM)
Julie Eggington, Lynn Anne Burbidge, Benjamin Roa, Dmitry Pruss, Karla Bowles, Eric Rosenthal, Lisa Esterling, Richard Wenstrup
03-01-2012
Representation of PMS2 Mutations in Patients Seeking Genetic Testing for Lynch Syndrome
Karla R. Bowles, Benoit Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Benjamin Roa
03-01-2012
Prognostic Value of a Cell Cycle Expression Profile Score Among Men with Conservatively Treated Localized Prostate Cancer
Jack Cuzick, Gabrielle Fisher, Dan Berney, David Mesher, Henrik Møller, Jerry Lanchbury, Alexander Gutin, Steven Stone
10-02-2010
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Practical Cancer Genetics and Genomics in Women's Health
Susan Modesitt 1, Holly J Pederson 2 3, Royce T Adkins 4
12-06-2019
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katherine Johansen Taber 1, Jeraldine Lim-Harashima 2, Harris Naemi 2, Jim Goldberg 1
11-06-2019
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Genevieve M Gould 1, Peter V Grauman 1, Mark R Theilmann 1, Lindsay Spurka 1, Irving E Wang 1, Laura M Melroy 1, Robert G Chin 1, Dustin H Hite 1, Clement S Chu 1, Jared R Maguire 1, Gregory J Hogan 1, Dale Muzzey 2
09-28-2019
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort
Alana C. Cecchi Elizabeth S. Vengoechea Kristjan E. Kaseniit Melanie W. Hardy Laura A. Kiger Nikita Mehta Imran S. Haque Krista Moyer Patricia Z. Page Dale Muzzey Karen A. Grinzaid
Molecular Genetics & Genomic Medicine
07-10-2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening
Kristjan E. Kaseniit Elizabeth Collins Christine Lo Krista Moyer Rebecca Mar‐Heyming Hyunseok P. Kang Dale Muzzey
Clinical Genetics
06-06-2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen 1 2 3, Andrea M Oza 4 5, Ignacio Del Castillo 6 7, Hatice Duzkale 8, Tatsuo Matsunaga 9, Arti Pandya 10, Hyunseok P Kang 11, Rebecca Mar-Heyming 11, Saurav Guha 11 12, Krista Moyer 11, Christine Lo 11, Margaret Kenna 13 5, John J Alexander 14 15, Yan Zhang 16, Yoel Hirsch 17, Minjie Luo 18 19, Ye Cao 20, Kwong Wai Choy 20, Yen-Fu Cheng 21 22 23, Karen B Avraham 24, Xinhua Hu 25, Gema Garrido 6 7, Miguel A Moreno-Pelayo 6 7, John Greinwald 8, Kejian Zhang 8, Yukun Zeng 16, Zippora Browns
06-04-2019
Sequencing as a first-line methodology for cystic fibrosis carrier screening
Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD, Peter V. Grauman BS, Lindsay Spurka BA, Jeraldine Lim-Harashima MS CGC, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD
Nature: Genetics in Medicine
05-15-2019
Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening
Jennifer Thompson 1, Kristen Vogel Postula 2, Kenny Wong 3, Sara Spencer 4
03-19-2019
A data-driven evaluation of the size and content of expanded carrier screening panels
Rotem Ben-Shachar PhD, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD
Nature: Genetics in Medicine
02-28-2019
Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders
Kaylene Ready MS, CGC, Katherine A. Johansen Taber PhD, Natasha Bonhomme BA & J. Leonard Lichtenfeld MD
Nature: Genetics in Medicine
02-26-2019
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD & Dale Muzzey PhD
Nature: Genetics in Medicine
02-14-2019
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens
Dale Muzzey 1, Shera Kash 2, Jillian I Johnson 2, Laura M Melroy 2, Piotr Kaleta 2, Kelly A Pierce 2, Kaylene Ready 2, Hyunseok P Kang 2, Kevin R Haas 2
12-04-2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Jessica L Mester 1, Rajarshi Ghosh 2, Tina Pesaran 3, Robert Huether 4, Rachid Karam 3, Kathleen S Hruska 1, Helio A Costa 5, Katherine Lachlan 6 7, Joanne Ngeow 8, Jill Barnholtz-Sloan 9 10, Kaitlin Sesock 11, Felicia Hernandez 3, Liying Zhang 12, Laura Milko 13, Sharon E Plon 2, Madhuri Hegde 14 15, Charis Eng 9 10 16
11-03-2018
Clinical utility of expanded carrier screening: results-guided actionability and outcomes
Katherine A. Johansen Taber, PhD , Kyle A. Beauchamp, PhD , Gabriel A. Lazarin, MS , Dale Muzzey, PhD , Aishwarya Arjunan, MS, MPH and James D. Goldberg, MD
Genetics in Medicine
10-11-2018
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan & Dale Muzzey
BMC Medical Genetics
09-29-2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Gregory J. Hogan, Valentina S. Vysotskaia, Kyle A. Beauchamp, Stefanie Seisenberger, Peter V. Grauman, Kevin R. Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H. Lai, Laura M. Melroy, Mark R. Theilmann, Clement S. Chu, Kevin Iori, Jared R. Maguire, Eric A. Evans, Imran S. Haque, Rebecca Mar-Heyming, Hyunseok P. Kang, Dale Muzzey
Clinical Chemistry
05-01-2018
Inherited Cancer in the Age of Next-Generation Sequencing
Kristin S. Price, MS, CGC, Ashley Svenson, MS, CGC, Elisabeth King, RN, FNP-C, AGN-BC, AOCNP, CBCN, Kaylene Ready, MS, CGC, Gabriel A. Lazarin, MS, CGC
Sage Journals: Biological Research For Nursing
01-11-2018
Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
Leslie Bucheit, Katherine Johansen Taber & Kaylene Ready
BMC: Hereditary Cancer in Clinical Practice
01-11-2018
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At‐Risk Couples
Caroline E. Ghiossi James D. Goldberg Imran S. Haque Gabriel A. Lazarin Kenny K. Wong
Journal of Genetic Counseling
09-27-2017
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
Caroline E Ghiossi 1, James D Goldberg 2, Imran S Haque 2, Gabriel A Lazarin 2, Kenny K Wong 2
09-27-2017
Systematic design and comparison of expanded carrier screening panels
Kyle A Beauchamp PhD, Dale Muzzey PhD, Kenny K Wong MS, CGC, Gregory J Hogan PhD, Kambiz Karimi PhD, Sophie I Candille PhD, Nikita Mehta MS, CGC, Rebecca Mar-Heyming PhD, K Eerik Kaseniit MEng, H Peter Kang MD, Eric A Evans PhD, James D Goldberg MD, Gabriel A Lazarin MS, CGC & Imran S Haque PhD
Nature: Genetics in Medicine
06-22-2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates
Gabriel A Lazarin 1, Imran S Haque 1, Eric A Evans 1, James D Goldberg 1
03-09-2017
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque
PeerJ: Bioinformatics and Genomics
02-23-2017
Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates†
Gabriel A. Lazarin Imran S. Haque Eric A. Evans James D. Goldberg
Obstetrics & Gynaecology: Prenatal Diagnosis
02-06-2017
Prenatal Carrier Screening
Imran S Haque 1, Gabriel A Lazarin 1, Ronald J Wapner 2
12-27-2016
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population
Nikita Mehta, Gabriel A. Lazarin, Erica Spiegel, Kathleen Berentsen, Kelly Brennan, Jessica Giordano, Imran S. Haque, and Ronald Wapner
Genetic Testing and Molecular Biomarkers
09-01-2016
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening
Imran S. Haque, PhD; Gabriel A. Lazarin, MS; H. Peter Kang, MD; et al
JAMA Network
08-16-2016
Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276–284)
Kenny K. Wong, James D. Goldberg, Eric A. Evans, Hyunseok Peter Kang, and Imran S. Haque
Mary Ann Liebert, Inc. publishers: Genetic Testing and Molecular Biomarkers
08-01-2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing
Hyunseok P. Kang, Jared R. Maguire, Clement S. Chu, Imran S. Haque, Henry Lai, Rebecca Mar-Heyming, Kaylene Ready, Valentina S. Vysotskaia, Eric A. Evans
PeerJ: Bioinformatics and Genomics
06-28-2016
Carrier screening in the era of expanding genetic technology
Aishwarya Arjunan MS, MPH, Karen Litwack LCSW, Nick Collins MS & Joel Charrow MD
Genetics in Medicine
04-07-2016
Current controversies in traditional and expanded carrier screening
Lazarin, Gabriel A.; Goldberg, James D.
Current Opinion in Obstetrics and Gynecology
04-01-2016
Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability
Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E.
Journal of Genetic Counseling
04-01-2016
Expanded carrier screening: A review of early implementation and literature
Gabriel A.LazarinMS & Imran S.HaquePhD
Seminars in Perinatology
02-01-2016
Changing trends in carrier screening for genetic disease in the United States
Shivani B. Nazareth, Gabriel A. Lazarin and James D. Goldberg
Prenatal Diagnosis
10-01-2015
Understanding the Basics of NGS: From Mechanism to Variant Calling
Dale Muzzey • Eric A. Evans • Caroline Lieber
Current Genetic Medicine Reports
09-04-2015
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Gabriel A. Lazarin, Felicia Hawthorne, Nicholas S. Collins, Elizabeth A. Platt, Eric A. Evans, Imran S. Haque
PloS ONE
12-10-2014
Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing
Susan Klugman, Nicole Schreiber-Agus, Shivani Nazareth, and Eric A. Evans
Genetic Testing and Molecular Biomarkers
09-20-2013
Response to Stoll and Resta
Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS & Eric A. Evans PhD
Genetics in Medicine
04-03-2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS, Kevin Iori BS, A. Scott Patterson MA, Jessica L. Jacobson MD, John R. Marshall MD, William K. Seltzer PhD, FACMG, Pasquale Patrizio MD, Eric A. Evans PhD & Balaji S. Srinivasan PhD
Genetics in Medicine
09-13-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers
Ready K, Haque IS, Srinivasan BS, Marshall JR.
Fertility and Sterility
02-01-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers
Kaylene Ready 1, Imran S Haque, Balaji S Srinivasan, John R Marshall
12-02-2011
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental‐targeted screening test
Yves Lacassie, John M. Storment, Gabriel A. Lazarin
American Journal of Medical Genetics Part A
11-03-2011
A universal carrier test for the long tail of Mendelian disease
Srinivasan BS, Evans EA, Flannick JF, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P.
Reproductive Biomedicine Online
10-01-2010
Title
Author
Conference
Publication Date
Improving Inequities in Prenatal Screening: Time to Modernize Guidelines
Edie Smith & Summer Pierson
05-23-2021
Contribution of Large Genomic Deletions to Recessive Mendelian Disease Carrier Burden within a Healthy Population
Sam Cox
04-16-2021
Addition of novel SNV and Indel identification via next-generation sequencing improves alpha thalassemia detection rate
Genevieve Gould
10-27-2020
Impact Analysis of PVS1 Criteria on Canonical Splice Variant Classifications
Katrina Tanaka
10-27-2020
Consistency of carrier screening guidelines across seven populations and 408,000 individuals
Aishwarya Arjunan
06-06-2020
Assessing the Consistency of Carrier Screening Guidelines
Summer Pierson
05-31-2020
Clinical Validity of Expanded Carrier Screening: Evaluating the Gene-Disease Relationship in more than 200 Conditions
03-18-2020
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katie Johansen Taber
11-07-2019
Title
Author
Conference
Publication Date
Clinical Experience of an Alpha Thalassemia Carrier Screening Assay with an Increased Detection Rate Due to Novel Variant Calling
Genevieve Gould
10-18-2021
Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples
Aishwarya Arjunan
04-30-2021
Expanded Carrier Screening: Adherence to Panel Criteria and Efficiency of At-Risk Couple Detection
Katie Johansen Taber
04-30-2021
The relationship between variant type and phenotype among diseases screened by the Foresight® Expanded Carrier Screen
Kambiz Karimi
11-17-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber
11-17-2020
Reducing Results Delivery Time for Couples Undergoing Carrier Screening: A "Tandem-Reflex” Strategy
Aishwarya Arjunan
10-30-2020
Application of a Severity Framework to 176 Genes on an Expanded Carrier Screening Panel
Aishwarya Arjunan
10-30-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber
10-19-2020
Detecting Novel Variants in Alpha Thalassemia Carriers
Genevieve Gould
03-20-2020
Application of a Severity Framework to 176 Conditions on an Expanded Carrier Screening Panel
Aishwarya Arjunan
11-07-2019
Minimizing Results Delivery Time for Couples Undergoing Carrier Screening by Using a Tandem-Submission-with-Partner-Reflex (“Tandem Reflex”) Strategy
Aishwarya Arjunan
11-07-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations
Valentina Vysotskaia
11-05-2019
Assessing the Consistency of Carrier Screening Guidelines Across Seven Populations and 265,000 Individuals
Jamie Kostialik
10-21-2019
A deep learning model for accurate variant calling congenital adrenal hyperplasia
Sun Hong
10-16-2019
Accurate and high-resolution copy number variant detection in clinical germline screening
Jiani Li
10-16-2019
Leveraging large datasets accumulated through population carrier screening to inform variant classification
David Tran
10-16-2019
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Aishwarya Arjunan
10-15-2019
A “Tandem-Reflex” Strategy Minimizes Results Delivery Time for Couples Undergoing Carrier Screening
Aishwarya Arjunan
10-15-2019
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk
Dale Muzzey 1 2, James D Goldberg 1, Carrie Haverty 1
12-20-2019
Inaccuracies and shortcomings in "Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations"
Katherine Johansen Taber 1, Carrie Haverty 2, Susan Hancock 2, James Goldberg 2
11-21-2019
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management
Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabriel A. Lazarin, Elizabeth Denne, Dale Muzzey, and Carrie Haverty
Mary Ann Liebert, Inc. Publishers
02-26-2019
Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens
Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty & Dale Muzzey
BMC Medical Genetics
10-11-2018
Industry perspectives on prenatal genetic testing
Amy Swanson 1, James D Goldberg 2
07-26-2018
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF
John P Johnson 1, Jonathon Schoof 2, Linda Beischel 2 3, Corbin Schwancke 2, James Goldberg 4, Lauri Black 5, Lori Ross 6, Suchina Bhatt 7
04-13-2018
Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods
Carlo G Artieri 1, Carrie Haverty 1, Eric A Evans 1, James D Goldberg 1, Imran S Haque 1 2, Yuval Yaron 3, Dale Muzzey 1
05-03-2017
Noninvasive prenatal screening at low fetal fraction: comparingwhole-genome sequencing and single-nucleotide polymorphismmethods
Carlo G. Artieri Carrie Haverty Eric A. Evans James D. Goldberg Imran S. Haque Yuval Yaron Dale Muzzey
Obstetrics & Gynaecology: Prenatal Diagnosis
03-20-2017
Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening
Kristjan Eerik Kaseniit, Mark R. Theilmann, Alexander Robertson, Eric A. Evans, Imran S. Haque
Clinical Chemistry
09-01-2016
Title
Author
Conference
Publication Date
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience
Rotem Ben-Shachar
10-13-2021
Can Expanded Carrier Screening Shorten the Diagnostic Odyssey in those with Genetic Disease?
Maysen Mesaros
09-21-2021
Clinical Experience for Noninvasive Prenatal Screen in Twins
Susan Hancock
11-17-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-invasive Prenatal Screening
Manesha Putra
02-03-2020
Title
Author
Conference
Publication Date
A noninvasive prenatal screen with >99.9% of patients with fetal fraction ≥4%
Rotem Ben-Shachar
09-21-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples
Rotem Ben-Shachar
04-30-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience
Rotem Ben-Shachar
04-30-2021
Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis
Susan Hancock
04-13-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey
01-29-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey
11-19-2020
Detecting Novel SNVs and Indels in Alpha Thalassemia Carriers
Aishwarya Arjunan
11-17-2020
A novel Bayesian hierarchical model for analytically validating the detection of common and rare autosomal aneuploidies from noninvasive prenatal screening of 44,420 samples
Raul Torres
10-27-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
03-20-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-Invasive Prenatal Screening
Dale Muzzey
03-19-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
11-07-2019
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
11-07-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?
Susan Hancock
11-05-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?
Susan Hancock
11-05-2019
Locations
United States
Europe
Japan