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Scientific publications
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.
Conner T, Cook F, Fernandez V, Rascati K, Rangel-Miller V. J Rare Dis. Published online February 18, 2019. doi:10.1186/s13023-019-1027-3 Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines.
Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O. JAMA Oncol. Published online February 7, 2019. doi:10.1001/jamaoncol.2018.6760 A rigorous interlaboratory examination of the need to confirm next-generation sequencing-detected variants with an orthogonal method in clinical genetic testing.
Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. J Mol Diagn. Published online January 2, 2019. doi:10.1016/j.jmoldx.2018.10.009 BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R1, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB. PLoS Genet. Published online December 26, 2018. doi:10.1371/journal.pgen.1007752 Underdiagnosis of hereditary breast cancer: Are genetic testing guidelines a tool or an obstacle?
Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK; Yang S, Esplin ED, Nussbaum RL. J Clin Oncol. Published online December 7, 2018. doi:10.1200/JCO.18.01631 Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.
Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Genet Med. Published online September 24, 2018. doi:10.1038/s41436-018-0302-3ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Human Mutation. 2018;39(11):1668-1676. doi:10.1002/humu.23633Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: Genetic testing criteria miss the mark.
Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL. Annals of Surgical Oncology. Published online July 11, 2018. doi:10.1245/s10434-018-6621-4 ↳Watch a short video summarizing this study. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Genetics in Medicine. Published online June 12, 2018. doi:10.1038/s41436-018-0033-5Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.
Aradhya S, Nussbaum RL.Molecular Genetics and Genomic Medicine. Published online May 28, 2018. doi:110.1002/mgg3.415Genetic evaluation of cardiomyopathy - a Heart Failure Society of America Practice Guideline.
Hershberger RE, Givertz M, Ho CY, Judge DP, Kantor P, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Cardiac Failure. Published online March 19, 2018. doi:10.1038/s41379-018-0031-9The genetics of recurrent hydatidiform moles: New insights and lessons from a comprehensive analysis of 113 patients.
Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R. Modern Pathology. Published online February 20, 2018. doi: 10.1016/j.cardfail.2018.03.004 ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Hay SB, Sahoo T, Travis MK, Hovanes K, Dzidic N, Doherty C, Strecker MN. Prenatal Dignosis. 2018;38(3):184-9. doi:10.1002/pd.5212 Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Genetics in Medicine. 2018;20(3):351-9. doi:10.1038/gim.2017.218 Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy
Dudley B, Karloski E, Monzon FA, Singhi AD, Lincoln SE, Bahary N, Brand RE. Cancer. 2018;124(8):1691-1700. doi: 10.1002/cncr.31242 Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: A joint recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Roy S, Coldren C, Karunamurthy A, Kip NS, Klee EW, Lincoln SE, Leon A, Pullambhatla M, Temple-Smolkin RL, Voelkerding KV, Wang C, Carter AB. The Journal of Molecular Diagnostics. 2018;20(1):4-27. doi:10.1016/j.jmoldx.2017.11.003 Conflicts of interest in genetic counseling: addressing and delivering.
Iacoboni D. Genetics in Medicine. Published online January 4, 2018. doi:10.1038/gim.2017.234 Sources of discordance among germ-line variant classifications in ClinVar.
Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S.
Genetics in Medicine. Published online June 1, 2017. doi:10.1038/gim.2017.60 Expanded gene panel use for women with breast cancer: Identification and intervention beyond breast cancer risk.
O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S, Ouyang K.
Annals of Surgical Oncology. Published online August 1, 2017. doi:10.1245/s10434-017-5963-7 ↳Watch a short video summarizing this study.Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.
Genetics in Medicine. Published online May 11, 2017. doi:10.1038/gim.2017.37 Consistency of BRCA1 and BRCA2 variant classifications among clinical diagnostic laboratories.
Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL.
JCO Precision Oncology. Published online April 11, 2017. doi:10.1200/PO.16.00020 Pathogenic variant burden in the ExAC database: An empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE.
Genome Medicine. 2017, 9, 13. doi:10.1186/S13073-017-0403-7 Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Sahoo T, Dzidic N, Strecker MN, Commander S, Travis MK, Doherty C, Tyson RW, Mendoza AE, Stephenson M, Dise CA, Benito CW, Ziadie MS, Hovanes K.
Genetics in Medicine. 2017;19(1):83-9. doi:10.1038/gim.2016.69 Clinical genetics testing laboratories have a remarkably low rate of clinically significant discordance when interpreting variants in hereditary cancer syndrome genes.
Nussbaum RL, Yang S, Lincoln SE.
Journal of Clinical Oncology. Published online January 30, 2017. doi:10.1200/JCO.2016.70.9451 Data sharing and reproducible clinical genetic data: Success and challenges.
Yang S, Cline M, Zhang C, Paten B, Lincoln SE.
Pacific Symposium on Biocomput. 2016, 22, 166-176. doi:10.1142/9789813207813_0017 Clinical genetic testing for the cardiomyopathies and arrhythmias: A systematic framework for establishing clinical validity and addressing genotypic and phenotypic heterogeneity.
Garcia J, Tahiliani J, Johnson NM, Aguilar S, Beltran D, Daly A, Decker E, Haverfield E, Herrera B, Murillo L, Nykamp K, Topper S.
Frontiers in Cardiovascular Medicine. 2016, 3(20). doi:10.3389/fcvm.2016.00020 Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome.
Chan SH, Lim WK, Michalski ST, Lim JQ, Binte Ishak ND, Met-Domestici M, Chuan Young CN, Vikstrom K, Esplin ED, Fulbright J, Ang MK, Wee J, Sittampalam K, Farid M, Lincoln SE, Itahana K, Abdullah S, Teh BT, Ngeow J.
NPJ Genomic Medicine. 2016, 1, 16015. doi:10.1038/npjgenmed.2016.15 Who pays? Coverage challenges for cardiovascular genetic testing in U.S. patients.
Spoonamore K, Johnson NM.
Frontiers in Cardiovascular Medicine. 2016, 3(14). doi:10.3389/fcvm.2016.00014 Comprehensive versus targeted genetic testing in children with hypertrophic cardiomyopathy.
Bales ND, Johnson NM, Judge DP, Murphy AM.
Pediatric Cardiology. 2016, 37(5), 845. doi:10.1007/s00246-016-1358-y An individual with both MUTYH-associated polyposis and Lynch syndrome identified by multi-gene hereditary cancer panel testing: A case report.
Cohen SA, Tan CA, Bisson R.
Frontiers in Genetics. 2016, 7, 1. doi:10.3389/fgene.2016.00036 Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, Harper A, Demmer L.
American Journal of Medical Genetics Part A. 2016, 170(6), 1552-4833. doi:10.1002/ajmg.a.37611 Genetic counselors in startup companies: Redefining the genetic counselor role.
Rabideau MM, Wong K, Gordon ES, Ryan L.
Journal of Genetic Counselling. 2016, 25(4), 649–657. doi:10.1007/s10897-015-9923-8 Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?
Sahoo T, Hovanes K, Strecker MN, Dzidic N, Commander S, Travis MK.
Genetics in Medicine. 2016;18(3):275-6. doi:0.1038/gim.2015 Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment.
Desmond A, Kurian AW, Gabree M, Mills MA, Anderson MJ, Kobayashi Y, Horick N, Yang S, Shannon KM, Tung N, Ford JM, Lincoln SE, Ellisen LW.
JAMA Oncology. 2015, 1(7), 943-951. doi:10.1001/jamaoncol.2015.2690 A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients.
Lincoln S, Kobayashi Y, Anderson M, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW.
The Journal of Molecular Diagnostics. 2015, 17(5), 533-544. doi:10.1016/j.jmoldx.2015.04.009 Low-level constitutional mosaicism of a de novo BRCA1 gene mutation.
Friedman E, Efrat N, Soussan-Gutman L, Dvir A, Kaplan Y, Ekstein T, Nykamp K, Powers M, Rabideau M, Sorenson J, Topper S.
British Journal of Cancer. 2015, 112, 765–768. doi:10.1038/bjc.2015.14 A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.
Hart RK, Rico R, Hare E, Garcia J, Westbrook J, Fusaro VA.
Bioinformatics. 2015, 31(2), 268-270. doi:10.1093/bioinformatics/btu630 Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, Strom CM.
Genetics in Medicine. 2015;17(3):234-6. doi:10.1038/gim.2014.92 PWS/AS MS-MLPA confirms maternal origin of 15q11.2 microduplication.
Dawson AJ, Cox J, Hovanes K, Spriggs E.
Care Reports in Genetics. 2015;2015:474097. doi:10.1155/2015/474097 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
Journal of Clinical Oncology. 2014,32(19), 2001-2009. doi:10.1200/JCO.2013.53.6607
2019 Posters and Presentations
Heart Rhythm Society (HRS)
May 8-11, 2019
San Francisco, CA
POSTER
Common variants in the KCNE1 and KCNH2 genes are independent risk alleles for cardiac arrhythmias
Clinical Immunology Society (CIS)
April 4-7, 2019
Atlanta, GA
POSTER
Pacific Coast Reproductive Society (PCRS)
April 3-7, 2019
Indian Wells, CA
Posters
Carrier screening: Should evaluating more genes be the standard of care?
American College of Medical Genetics and Genomics (ACMG)
April 2-6, 2019
Seattle, WA
Posters
Expanding spinal muscular atrophy diagnosis through multi-gene panel testing
The common variant rs1805128 in the KCNE1 gene is an independent risk allele for cardiac arrhythmias
Presentations
Society of Gynecologic Oncology (SGO)
March 16-19, 2019
Honolulu, HI
Poster
Advances in Genome Biology and Technology (AGBT)
February 27 - March 2, 2019
Marco Island, FL
Poster
2018 Posters and Presentations
The San Antonio Breast Cancer Symposium (SABCS)
December 4-8, 2018
San Antonio, TX
Posters
Expanded panel testing superior to BRCA1/2 and breast cancer panel in patients with breast cancer
Underdiagnosis of hereditary breast cancer: Are genetic testing guidelines a tool or obstacle?
National Society of Genetic Counselors (NSGC)
November 14-17, 2018
Atlanta, GA
Posters
Findings beyond BRCA 1/2 impact management of hereditary breast and ovarian cancer families
Understanding genetics learning needs of people affected by rare disease
How is the NSGC definition of genetic counseling being used?
American Society of Human Genetics (ASHG)
October 16-20, 2018
San Diego, CA
Posters
Presentations
The European Society of Human Genetics (ESHG)
June 16-19, 2018
Milan, Italy
POSTER
Presentation
An interlaboratory study of complex variant detection in clinical testing
Heart Rhythm Society (HRS) Scientific Sessions
May 9-12, 2018
Boston, MA
POSTER
Falling short of guidelines: Uptake of family cascade testing in inherited arrhythmias
BRCA Symposium
May 8-11, 2018
Montreal, Canada
POSTER
Characterization of the clinical phenotype of biallelic CHEK2 carriers
PRESENTATIONS
An international interlaboratory study of complex pathogenic variants In hereditary breast/ovarian cancerAmerican Society of Breast Surgeons (ASBS)
May 2-6, 2018
Orlando, FL
PRESENTATION
Clinican Immunology Society (CIS)
April 26-29, 2018
Toronto, Canada
POSTER
The American College of Medical Genetics and Genomics (ACMG)
April 10-12, 2018
Charlotte, NC
POSTERS
Detection of NF1 variants by NGS panels with SMV and CNV identification exceeds published estimates and improves clinical utility Multigene panel screening for hereditary disease risk in healthy individualsDiagnostic yield of metabolic analyte-based testing panels
Behind the SeizureTM: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2 and 4 years The paperwork matters! Phenotypic information significantly impacts variant interpretation in hereditary cancer testing Down syndrome resources from the National Institutes of Health: research projects supported by the DS-Connect® registry Are we ready for telegenetics? Surveying the current landscape among ACMG members
Current challenges in the classification of large genetic events affecting TTN
Quantitative determination of SMN2 copy number using next-generation sequencing and correlation to disease severityThe Clinical impact of mutations beyond BRCA1/2 in breast cancer patients
Improved diagnostic confirmation of newborn screening conditions by next-generation sequencing: A collaboration between laboratory and clinicianReducing VUS rates among ethnic groups: Sequencing smarter not harder
PRESENTATIONS
Secondary findings in hereditary cancer genes from multigene panel data: A new frontier unanticipated by the ACMGAn interlaboratory study of complex variant detection in clinical testingWORLDSymposium
February 4-8, 2018
Orlando, FL
POSTERS
Molecular diagnostic findings of lysosomal storage diseases in children and adults suspected to have inborn errors of metabolism Genetic testing for lysosomal storage disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretation ConnectMPS registry project: Connecting mucopolysaccharidosis and mucolipidosis patients
PRESENTATION
2017 Posters and Presentations
American Society for Reproductive Medicine (ASRM)
October 27-November 1, 2017
San Antonio, TX
POSTERS
Aneuploidy rates in embryos generated from fresh versus frozen donor oocytesAneuploidy rates in day 5 versus day 6 blastocyst biopsies
Validation of a novel copy number variant detection algorithm for CFTR from targeted next-generation sequencing data FMR1 AGG testing in the infertility setting: Does the information change reproductive decision-making? Re-biopsied PGS embryos yield actionable results
Targeted next-generation sequencing-based PGS detects uniparental isodisomy, familial relationships, and polyploidy Identification of polyploid embryos using a targeted NGS-based preimplantation genetic screening assay
Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)
October 20-21, 2017
Orlando, Fl
POSTERS
Broadening the scope: Expanding ordering patterns in suspected hereditary CRCAmerican Society of Human Genetics (ASHG)
October 17-21, 2017
Orlando, Fl
POSTERS
Paperwork matters! The importance of clinical phenotype information in variant interpretationStreamlined, efficient, and uniform molecular inversion probe capture for targeted sequencing
Copy number analysis using next-generation sequencing: Comprehensive genetic testing and its application to neuromuscular and epilepsy panels Novel pathogenic variants are routinely detected even in extensively-sequenced genes, such as CFTR Improving variant classification by incorporating pre-curated gene-specific knowledge into hereditary cancer multi-gene panel testing Validation of a novel copy number variant detection algorithm for CFTR from targeted next-generation sequencing data Multi-gene panel analysis with integrated sequence and copy number detection is a useful first test with a high diagnostic yield and broad mutation spectrum detection in childhood epilepsy New systematic rubric for clinical interpretation of copy number variants (CNVs) improves interpretation consistency across laboratories Tracing the dark matter: Prevalence of intragenic CNVs in Mendelian disease genes
Targeted next-generation sequencing-based preimplantation genetic screening enables calling of uniparental isodisomy, triploidy, and familial relationships Diagnostic yield for neurological and neuromuscular disorder testing via high-depth multi-gene panel analysis with integrated sequence and copy number detection Potential of predisposition genetic screening for dominant actionable cardiovascular conditions: Prevalence of genomic variants in 10,812 individuals
PRESENTATIONS
Genetic screening for healthy individuals: Preliminary results from a medically actionable genetic screening panel An inter-laboratory study of complex variant detection in clinical testingSecondary findings after virtual panels: A new frontier in incidental findings
National Society of Genetic Counselors (NSGC)
September 13-16, 2017
Columbus, Oh
POSTERS
Paperwork matters! The importance of clinical phenotype information in variant interpretationCounseling healthy individuals for proactive genetic screening: A case report
Retrospective analysis of preliminary results from a medically actionable genetic screening panel for healthy individuals Next-generation sequencing and a novel bioinformatic approach identifies copy number variation in ion channel genes in a clinical laboratory Sources of agreement and disagreement among variant classifications in ClinVar: Critical factors for clinicians Developing genetic education to improve postmortem genetics: The NSGC Postmortem Working Group (PMWG) collaborative experience Identification of balanced translocation carriers through routine preimplantation genetic screening
Utilization and findings of a rapid turnaround laboratory process for hereditary breast cancer
The impact of preconception AGG interruption testing on Fragile X syndrome carriers in the fertility setting Diagnostic yield for neurological and neuromuscular disorder testing via highdepth multi-gene panel analysis with integrated sequence and copy number detection
PRESENTATIONS
Following somatic tumor testing with germline analysis: Considerations for genetic counseling practice The elephant in the room: TTNBioinformatics for genetic counselors 3.0: New methods in clinical testing
Incidental findings in patients referred for family variant testing
Addition of a remote genetic counselor to the breast specialist’s team improves clinical decision-making Multi-gene sequencing panel is a useful first test with a high diagnostic yield in childhood epilepsy
Germline genetic testing in prostate cancer: Do we need disease-specific guidelines?
Southeastern Regional Genetics Group Meeting
July 20-22, 2017
Ashville, NC
PRESENTATIONS
Copy number variant analysis enhances molecular diagnostic yield of inborn errors of metabolismMetabolic pathognomonics: Incorporating disease-specific biochemical data improves variant interpretation for inherited metabolic disorders
American Society of Clinical Oncology (ASCO) Annual Meeting
June 2-6, 2017
Chicago, IL
POSTERS
Determining the clinical value of germline genetic testing coupled with tumor mutation profilingNeed for re-evaluation of current guidelines based on results from germline genetic testing in prostate cancer Unexpected germline mutations in a pan-cancer analysis including sarcoma, renal, and other cancers
Heart Rhythm Society (HRS) Scientific Sessions
May 10-13, 2017
Chicago, IL
PRESENTATION
Pathogenic variants in calmodulin associated with resuscitated childhood cardiac arrestThe American College of Obstetricians and Gynocologists (ACOG)
May 6-9, 2017
San Diego, CA
POSTER
ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?American Society of Breast Surgeons (ASBS)
April 26-30, 2017
Las Vegas, NV
POSTERS
Expanded gene panel utilization in women with breast cancer: identification and intervention beyond breast cancer risk Hereditary cancer risk: A growing body of evidence supporting broader testingBreast surgeon consultation with remote genetic counselor improves clinical decision-making
ACMG Annual Clinical Genetics Meeting
March 21-25, 2017
Phoenix, AZ
POSTERS
Attitudes of healthy early adopters toward professional genome sequencing: Observations from the PeopleSeq Consortium The benefit of a medically actionable genetic screening panel in healthy individuals: A case reportCanavan disease research: Forming a Patient Insights Network for the Canavan disease community
CNV analysis of ACADM enhances yield in the molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency Contiguous 2p16.3p21 gene deletion including EPCAM, MSH2, and MSH6 identified with next-generation sequencing Co-occurrence of pathogenic variants in MPZ and LRSAM1 in Charcot-Marie-Tooth disease: Implications for genetic counseling for multi-gene panel testing Detection of a novel complex rearrangement in KCNH2 with next-generation sequencing in a clinical laboratory Genetic information for healthy individuals: Developing a medically actionable genetic screening panel Glycine missense variants in the COL3A1 triple-helix domain: Assessing functional domain data during clinical variant interpretation Harmonizing variant interpretation for sequence and copy number changes within individual genes in clinical diagnostic testing Leveraging phenotype ontologies to improve variant interpretation by factoring in phenotype specificity Metabolic pathognomonics: incorporating disease-specific biochemical data improves variant interpretation for inherited metabolic disorders Molecular diagnosis of primary ciliary dyskinesia: Experience from a clinical laboratory
One of these things is not like the other: Clinically actionable discordance between germline sequencing and somatic tumor profiling in cancer patients PMS2 pseudogene and disambiguation: Technically challenging, clinically critical
Potential of predispositional genetic screening for dominant actionable disorders: prevalence of genomic variants in 16,000 individuals
PRESENTATIONS
The spectrum of pathogenic variants underlying multiple conditions in 80,000 patients: Implications for test implementation, utilization and validation Tracing the dark matter: Prevalence of copy number and structural variants across Mendelian disordersMiami Breast Cancer Conference
March 9-12, 2017
Miami Beach, Florida
poster
Male breast cancer: The role of next-generation sequencing panels in determining biology2016 Posters and Presentations
American Society of Human Genetics (ASHG)
October 18-22, 2016
Vancouver BC
POSTERS
Accurate detection of copy-number changes in the highly conserved regions of PMS2 using NGSAttitudes regarding personal genomic sequencing among healthy early adopters: Findings from the PeopleSeq ConsortiumCreating a medically actionable genetic screening panel for healthy individualsEvaluating the strength of evidence for gene-condition relationships: impact on multi-gene panel testing designGermline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome (also published in npj Genomics Medicine)Glycine missense variants in the COL3A1 triple helix domain: assessing functional domain data during clinical variant interpretationMammalian species conservation data and the implication for clinical variant classificationMolecular follow-up of a newborn screening positive case of medium-chain acyl–coenzyme A dehydrogenase deficiency identified two ACADM variants:
Are they clinically pathogenic?“Phenotypes of distinction”: When and how to integrate unique phenotypic information into variant interpretationPseudoSlayer: Clinical-grade variant identification within segmental duplications using NGS data“SMRTer Confirmation”: Scalable clinical read-through variant confirmation using the Pacific Biosciences SMRT® Sequencing platformThe spectrum of technically challenging pathogenic variants in patients presents new requirements for genetic test development and validationVariant classifications are highly concordant in ClinVar but with variability in genes from different disease areasWhat do public databases really tell us about classifications of variants in BRCA1 and BRCA2?Diagnostic utility of chromosomal microarray analysis in neonates: A comprehensive multi-year study
National Society of Genetic Counselors (NSGC)
September 28-OCTOBER 1, 2016
Seattle, Washington
POSTERS
Mammalian species conservation data and the implications for clinical variant classificationNovel large rearrangement of RAD51D in an ovarian and breast cancer familyInherited cardiomyopathies in the pediatric population: what molecular testing reveals
presentations
Bioinformatics for genetic counselors, version 2.0Creating a medically actionable genetic screening panel for healthy individuals
A novel approach to lab-based clinical genetic counseling
Hereditary genetic testing: current and future challenges
European Society of Human Genetics (ESHG)
May 21-24, 2016
Barcelona, Spain
poster
Copy number variation in clinical tests for inherited cardiomyopathies and arrhythmiaspresentation
What have public databases taught us about variant classification?Symposium on Hereditary Breast and Ovarian Cancer
May 10-13, 2016
Centre Mont-Royal, Montréal
posters
Variant classifications for BRCA1 and BRCA2 are substantially concordant across major clinical testing laboratories The expanding phenotype of PALB2-related cancer: clinical presentations of 144 identified carrierspresentation
Mosaic genetic variants in hereditary germline genetic testing: the expected and the unexpectedAmerican Society of Breast Surgeons (ASBS)
April 13-17, 2016
Dallas, Texas
poster
Clinical presentation and management considerations for 77 breast cancer patients with germline PALB2 mutationsNational Comprehensive Cancer Network® (NCCN)
March 31-April 2, 2016
Hollywood, FL
poster
Clinical actionability of panel tests for genes in the NCCN Guidelines for Hereditary Breast and Ovarian Cancer Clinical presentations of 111 patients with germline PALB2 mutations: Looking beyond breast and ovarian cancerSociety of Gynecologic Oncology (SGO)
March 19-22, 2016
San Diego, CA
poster
Preparing for the unexpected: Panel-based testing of ovarian cancer patients reveals actionable variants in non-canonical genesMiami Breast Cancer Conference
March 10-13, 2016
Miami Beach, Florida
posters
Clinical actionability of non-BRCA1/2 mutations uncovered in multigene tests for hereditary breast cancer Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories Clinical presentation and management considerations for 68 breast cancer patients with germline PALB2 mutationsAmerican College of Medical Genetics and Genomics (ACMG)
March 8-12, 2016
Tampa, Florida
posters
Allele frequency distribution of pathogenic sequence variants in ExAC and the implications for clinical genetic testing Expanding phenotypes of cancer predisposition genes: CDKN2A Detection of novel Alu insertions by next-generation sequencing of hereditary cancer genes Challenges of content expansion with panel testing: incorporating informatics into the clinical report Rare disease diagnosis obstacles: patient perspectives and physician findings To include or not to include: RASopathy genes in cardiomyopathy genetic testing To confirm or not to confirm, that is the question: a rigorous approach to evaluating the importance of Sanger confirmation of clinical NGS findingspresentation
Don't believe everything you hear: Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories2015 Posters and Presentations
Association for Molecular Pathology (AMP)
November 5-7, 2015
Austin, TX
posters
An opportunity or dilemma? Customizable panel tests and clinician ordering behavior Establishing and evaluating a framework for describing variant evidence in clinical genomic reports Sherloc- Evaluation of a score-based implementation of the AMP-ACMG ISV guidelines in a scalable genetic diagnostic laboratoryPresentations
Analytic validation standards for NGS assays and new reference materials needed A rigorous approach to evaluating the importance of Sanger Confirmation of NGS findingsClinical utility of NGS testing- Progress and challenges
National Society of Genetic Counselors (NSGC)
October 21-24, 2015
Pittsburgh, PA
posters
Clinical actionability of multigene tests for hereditary breast and ovarian cancer Integration of the ACMG ISV guidelines into clinical variant analysis and interpretation processes- A model for diagnostic standardization Moving beyond the 1%- incorporating the Exome Aggregation Consortium (ExAC) data into variant interpretation and classification To confirm or not confirm, that is the question: A rigorous approach to evaluating the importance of sanger confirmation of clinical NGS findings Understanding psychiatrists’ perceptions surrounding psychiatric genetics and genetic counseling servicesPresentations
Finding just right- Balancing payer and provider goals for hereditary genetic testing Next generation sequencing- Challenges and strategies in testing patients with circulating hematopoietic malignancies Validation of clinical genetic tests - or – How to stop worrying and love the data!American Society of Human Genetics (ASHG)
October 6-10, 2015
Baltimore, MD
Case series of colorectal cancer patients with BRCA 1/2 mutations: Finding actionable genes in patients with atypical presentations Sherloc: Evaluation of a scalable score-based implementation of the ACMG 2015 clinical variant interpretation guidelines To confirm or not confirm, that is the question: A rigorous approach to evaluating the importance of sanger confirmation of clinical NGS findings
Canadian Association of Genetic Counselors (CAGC)- Canadian College of Medical Geneticists (CCMG)
September 9-12, 2015
Ottawa, ON
Clinical actionability of multi-gene panel tests for hereditary breast and ovarian cancer (HBOC) Multiple pathogenic variants identified by next-generation sequencing hereditary cancer panel testing – a case report Colorectal cancer patients with BRCA 1 & BRCA 2 mutations- Preparing for unexpected results
RASopathies Conference
July 17-19, 2015
Seattle, WA
Case study of a large three-generation family with variable Noonan syndrome phenotypes Analysis of clinical indications, ordering behavior, and genetic testing results for Rasopathies genes and panels
American Society of Clinical Oncology (ASCO)
May 29-June 2, 2015
Chicago, IL
Clinical impact of multi-gene panel testing for hereditary breast and ovarian cancer risk assessment
ClinGen/DECIPHER
May 27-28, 2015
Washington, DC
The allele-frequency distribution of pathogenic sequence variants in ExAC
Mutation in the Genome sponsored by the Human Variome Project (HVP)
April 27-30, 2015
Leiden, Netherlands
Patterns of similarity and difference among clinical interpretations from multiple laboratories in ClinVar Traditional vs. next-generation panel testing of hereditary breast and ovarian cancer genes in a large clinical population Genome in a Bottle: You’ve sequenced. How well did you do?
American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting
March 24-28, 2015
Salt Lake City, UT
Discovery and clinical interpretation of a SMAD4 retrotransposon using next-generation sequencing What do we do with VUS? Genetics professionals’attitudes toward reporting variants of uncertain significance Early-onset Charcot-Marie-Tooth disease with diaphragmatic weakness Next-generation panel vs. traditional testing of hereditary breast and ovarian cancer genes in a large clinical population An opportunity or dilemma? Customizable panel tests and clinician ordering behavior Sherloc: A weighted, score-based variant classification system based on the 2015 ACMG ISV guidelines 2014 Posters and Presentations
San Antonio Breast Cancer Symposium (SABCS)
December 9-13, 2014
San Antonio, TX
Technical evaluation of multi‐gene testing for hereditary breast and ovarian cancer Multi-gene panel testing for hereditary breast and ovarian cancer risk assessment
American Society of Hematology (ASH) Annual Meeting
December 6-9, 2014
San Francisco, CA
Clinical testing of five hereditary hemochromatosis‐related genes: Preliminary evidence for the benefit of Next-Generation Sequencing
Association for Molecular Pathology (AMP) Annual Meeting
November 12-15, 2014
National Harbor, MD
Development of a novel score based system for germline variant interpretation of clinical next-generation data Traditional vs. next-generation testing of hereditary breast and ovarian cancer genes in a large clinical population
Canadian Association of Genetic Counselors (CAGC) Annual Education Conference
November 4-8, 2014
Vancouver, BC, Canada
Clinical testing of five hereditary hemochromatosis‐related genes: Preliminary evidence for the benefit of Next-Generation Sequencing
The American Society of Human Genetics (ASHG) Annual Meeting
October 18-22, 2014
San Diego, CA
Clinical and technical evaluation of a multi-gene NGS panel for hereditary cancer risk assessment MLPAseq: Assaying genome copy number variation using MLPA paired with high-throughput sequencing Kragle: A new local de novo assembler and genotype caller for short tandem repeats and other complex variations Next-generation sequencing reveals a novel duplication in BRCA2
National Society of Genetic Counselors (NSGC) Annual Education Conference
September 17-20, 2014
New Orleans, LA
Next-generation sequencing reveals a novel duplication in BRCA2 Returning hereditary cancer panel research results is clinically feasible and appreciated by patients Rethinking the family cancer history questionnaire in the era of next generation sequencing panels - are we asking the right questions? Understanding next generation sequencing results: an update on elements of variant interpretation and classification Before it's too late - broad hereditary cancer panel testing at the end of life Novel variant identified in CYP7B1 using next-generation sequencing A comparison of traditional and 29-gene panel testing for hereditary breast and ovarian cancer in over 1000 patients
Human Variome Project (HVP) Meeting
May 19, 2014
Paris, France
Clinical significance of transcript alignment discrepancies
American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting
March 25-29, 2014
Nashville, TN
Heterogeneity of hereditary spastic paraplegia and the finding of phenotypic modifier variants High accuracy and expanded yield from next-generation testing of multiple cancer genes
A low-cost, flexible diagnostic test for hundreds of inherited conditions
Miami Breast Cancer Conference
March 6-9, 2014
Miami, FL
High accuracy and expanded yield from next-generation testing of multiple cancer risk genes
Pacific Symposium on Biocomputing (PSB)
January 3-7, 2014
The Big Island, HI
CLINVITAE: An open database of clinically observed variants, and other open source tools from Invitae 2013 Posters and Presentations
The American Society of Human Genetics (ASHG) Annual Meeting
October 22-26, 2013
Boston, MA
A comprehensive low-cost diagnostic test for hundreds of inherited conditions A gift to children: Genetic testing at the end of life
Accurate detection of small and large copy number events from targeted next-generation sequence data
Clinical Validation of an NGS Assay for Heritable Mutations
Evaluation of a cancer gene sequencing panel in a hereditary risk assessment clinic
Cold Spring Harbor Biology of Genomes Meeting (CSHL)
May 7-11, 2013
Cold Spring Harbor, NY
A comprehensive low-cost clinical diagnostic test for hundreds of inherited conditions CNVitae: Accurate detection of small and large copy number events from DNA capture sequence data
