Publications

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 CancerÂ 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	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	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

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	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	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

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	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	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