Scientific publications

SMA identified: Clinical and molecular findings from a sponsored testing program for Spinal Muscular Atrophy in more than 2,000 individuals.
Bowen MB, Truty R, Aradhya S, Bristow SL, Johnson BA, Morales A, Tan CA, Westbrook MJ, Winder TL, Chavez JC. Frontiers in Neurology. Published online May 06, 2021:12:663911. doi.org/10.3389/fneur.2021.663911

Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: A multi-center prospective study.
Uson Junior PLS, Riegert-Johnson D, Boardman L, Kisiel J, Mountjoy L, Patel N, Lizaola-Mayo B, Borad MJ, Ahn D, Sonbol MB, Jones J, Leighton JA, Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ. Clin Gastroenterol Hepatol. Published online April 12, 2021:S1542-3565(21)00447-X. doi.org/10.1016/j.cgh.2021.04.013

Trans-ethnic variation in germline variants of patients with renal cell carcinoma.
Abou Alaiwi S, Nassar AH, Adib E, Groha SM, Akl EW, McGregor BA, Esplin ED, Yang S, Hatchell K, Fusaro V, Nielsen S, Kwiatkowski DJ, Sonpavde GP, Pomerantz M, Garber JE, Freedman ML , Rana HQ, Gusev A, Choueiri TK. Cell Reports. Published online March 30, 2021; 34(13), 108926. doi.org/10.1016/j.celrep.2021.108926

Sudden cardiac death - a new insight into potentially fatal genetic markers.
Primorac D, Odak L, Perić V, Ćatić J, Šikić J, Radeljić V, Manola Š, Nussbaum R, Vatta M, Aradhya S, Sofrenović T, Matišić V, Molnar V, Skelin A, Mirat J, Brachmann J. Frontiers in Medicine. Published online March 22, 2021. doi.org/10.3389/fmed.2021.647412

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. The American Journal of Human Genetics. Published online March 19, 2021. doi.org/10.1016/j.ajhg.2021.03.006

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Genet Med. Published online March 8, 2021. doi.org/10.1038/s41436-020-01090-w6

Democratizing genomics: Leveraging software to make genetics an integral part of routine care.
Snir M, Nazareth S, Simmons E, Hayward L, Ashcraft K, Bristow SL, Esplin ED, Aradhya S.  Am J Med Genet C Semin Med Genet. Published online March 2021; 187(1):14-27. doi.org/10.1002/ajmg.c.31866

Harmonizing the collection of clinical data on genetic testing requisition forms to enhance variant interpretation in hypertrophic cardiomyopathy (HCM): A study from the ClinGen cardiomyopathy variant curation expert panel.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M, ClinGen Cardiovascular Clinical Domain Working Group, Cardiomyopathy Variant Curation Expert Panel. J Mol Diagn. Published online February 22, 2021: S1525-1578(21)00042-8. doi.org/10.1016/j.jmoldx.2021.01.014

Common variants in KCNE1, KCNH2, and SCN5A may impact cardiac arrhythmia risk.
Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R. Circ Genom Precis Med. Published online February 2021; 14(1):e003206. doi.org/10.1161/CIRCGEN.120.003206

Developing and optimizing innovative tools to address familial hypercholesterolemia underdiagnosis: Identification methods, patient activation, and cascade testing for familial hypercholesterolemia.
Campbell-Salome G, Jones LK, Masnick MF, Walton NA, Ahmed CD, Buchanan AH, Brangan A, Esplin ED, Kann DG, Ladd IG, Kelly MA, Kindt I, Kirchner HL, McGowan MP, McMinn MN, Morales A, Myers KD, Oetjens MT, Rahm AK, Schmidlen TJ, Sheldon A, Simmons E, Snir M, Strande NT, Walters NL, Wilemon K, Williams MS, Gidding SS, Sturm AC. Circ Genom Precis Med. Published online February 2021; 14(1):e003120. doi.org/10.1161/CIRCGEN.120.003120

An evidence-based assessment of genes in dilated cardiomyopathy.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Deprez RL, Lumbers RT, Mazzarotto F, Domingo AM, Miller R, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. Published on MedRxiv 2020. doi.org/10.1101/2020.12.10.20247197

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K, Truty R, Riethmaier D, Wilkinson J, Bristow SL, Aguilar S, Neitzel D, Faulkner N, Kahan S, Aradhya S. Published on MedRxiv December 4, 2020. doi.org/10.1101/2020.12.02.20242719

SeqRepo: A system for managing local collections of biological sequences.
Hart RK, Prlić A. LoS One. Published online December 3, 2020; 15(12):e0239883. doi.org/10.1371/journal.pone.0239883

Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome.
Samadder JN, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson Jr PLS, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart, KA. JAMA Oncol. Published online October 30, 2020. doi.org/10.1001/jamaoncol.2020.6252

Yield and utility of germline testing following tumor sequencing in patients with cancer.
Lincoln SE, Nussbaum RL, Kurian AW, et al. JAMA Netw Open. Published online October 7, 2020;3(10):e2019452. doi:10.1001/jamanetworkopen.2020.19452

Jeffrey's insights: Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J, Modell V, Holle J, Truty R, Aradhya S, Johnson B, Orange J, Modell F. Immunol Res. Published online June 2020;68(3):126-134. doi.org/10.1007/s12026-020-09131-x

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman - Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Am J Med Genet A. Published online April 16 2020;182(7):1767-1775. doi.org/10.1002/ajmg.a.61597

Clinical cohort analysis of germline EGFR T790M demonstrates penetrance across ethnicities and races, sexes, and ages.
Berry DK, Wang X, Michalski ST, Kang HC, Yang S, Creelan BC, McLeod HL, Hicks JK. JCO Precision Oncol. Published online March 6, 2020. doi.org/10.1200/PO.19.00297

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Genet Med. Published online November 6, 2019. doi:10.1038/s41436-019-0686-8

Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
Hannah WB, Truty R, Gonzales V, Kithcart GP, Ouyang K, Zeman MK, Li C, Drumm M, Nykamp K, Gaston BM. J Pediatr. Published online Oct 11, 2019. doi: 10.1016/j.jpeds.2019.08.039.

Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
Tullius, BP, Shankar SP, Cole S, Triano V, Aradhya S, Huang EC, Sanchez T, Pawar A. Pediatr. Blood Cancer. 2019;66(8):e27788. doi:10.1002/pbc.27788.

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.
Roggenbuck J, Rich K, Morales A, Tan CA, Eck D, King W, Vatta M, Winder T, Elsheikh B, Hershberger RE, Kissel JT. Mol Genet Genomic Med. Published online September 5, 2019: e924. doi: 10.1002/mgg3.924

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Mol Genet Genomic Med. Published online July 4, 2019: e838. doi: 10.1002/mgg3.838

Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)."
Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. Genet Med. Published online June 26, 2019. doi:10.1038/s41436-019-0572-4 Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty, R, Patil, N, Sankar, R, Sullivan, J, Millichap, J, Carvill, G, Entezam, A, Esplin, ED, Fuller, A, Hogue, M, Johnson, B, Khouzam, A, Kobayashi, Y, Lewis, R, Nykamp, K, Riethmaier, D, Westbrook, J, Zeman, M, Nussbaum, RL, Aradhya, S.Epilepsia Open. Published online June 22, 2019. doi:10.1002/epi4.12348 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 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 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.
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2020 Posters and Presentations

The Human Genetics Society of Australasia (HGSA)

November 24 — 25, 2020 
(Virtual)

Posters

Sponsored testing programs show high clinical utility; over 60,000 individuals tested in less than 3.5 years

International expanded carrier screening experience

The National Society of Genetic Counselors (NSGC)

November 18 — 22, 2020 
(Virtual)

Posters

Utility of adding phenotypic criteria refinement to ACMG guidelines

Comprehensive germline multigene panels change clinical care and inform treatment strategies for breast cancer patients

Carrier screening for X-linked conditions is common practice

Presentations

Increasing access for patients with pancreatic cancer to germline genetic testing: Clinical impacts across disease stage and ethnicity

Evaluating variant reclassification in reproductive carrier screening

RNA: One splice of the genetic testing pie

The American Society of Human Genetics (ASHG)

October 27 — 30, 2020 
(Virtual)

Posters

A novel functional modeling platform reduces the burden of missense variants with uncertain clinical classification in sodium channel genes

Increasing access to germline genetic testing for patients with pancreatic cancer: Opportunities for precision therapy across disease stage and ethnicity

Sponsored testing programs: an emerging paradigm to accelerate the diagnosis and precision care of individuals with rare genetic disease

Presentations

Broad germline genetic testing criteria for prostate cancer yields actionable findings across all stages of disease

Evaluating the role of variant reclassification in reproductive carrier screening

The American College of Obstetricians and Gynecologists (ACOG)

April 24 — 27, 2020 
(planned to be presented before meeting was cancelled)

Poster

Carrier screening in 2019: Expanded panels are on the rise

American College of Cardiology (ACC) / World Congress of Cardiology (WCC)

March 28 — 30, 2020 
(virtual)

Poster

Precision medicine opportunities for familial arrhythmias and cardiomyopathies identified when cost of genetic testing is removed as a barrier

Presentation

Cardiologists beware: clinical limitations of genotyping- versus sequencing-based strategies for cardiomyopathy evaluation

ACMG Annual Clinical Genetics Meeting

March 17 — 21, 2020 
(virtual)

Poster

Can we really test everyone? A scalable model to identify healthy individuals at risk for Hereditary Cancer Syndromes

Sponsored testing programs: an emerging paradigm to accelerate diagnosis and precision care of individuals with rare genetic disease

Presentation

Increasing access to germline genetic testing for prostate cancer patients increases yield of actionable findings across all stages of disease

WORLDSymposium

February 10 — 13, 2020 
Orlando, FL

Poster

Molecular diagnostic findings of lysosomal storage diseases as a result of Detect Lysosomal Storage Diseases, a no-charge sponsored testing program

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?

Limitations of direct-to-consumer genetic screening for HBOC: False negatives, false positives and everything in between

National Society of Genetic Counselors (NSGC)

November 14-17, 2018 
Atlanta, GA

Posters

Comprehensive analysis of the ACMG59 genes in parental samples submitted for exome evaluation yields a high positive rate

Findings beyond BRCA 1/2 impact management of hereditary breast and ovarian cancer families

Removing the barrier of cost for family variant testing in cancer predisposition genes significantly increases uptake among relatives

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

Prevalence of colorectal cancer in a cohort of patients carrying CHEK2 p.I157T – Considerations for colorectal cancer screening

Behind The Seizure™: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2–4 years

Expanded genetic testing for primary immunodeficiencies: Findings from a 207-gene next-generation sequencing panel

Presentations

Genetic testing for healthy individuals: A medically actionable panel finds a high positive rate for hereditary disease

Barriers to cascade testing: Impact of a no-additional cost family genetic testing program on uptake of hereditary cancer risk assessment

A rigorous interlaboratory examination of the need to confirm NGS-detected variants in clinical genetic testing

The European Society of Human Genetics (ESHG)

June 16-19, 2018 
Milan, Italy

POSTER

Secondary findings on multigene panels: A new frontier for clinical utility in hereditary cancer genes

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

Utilization of pathogenic mutations beyond BRCA1/2 in breast cancer patients up to 36 months post-testing

American Society of Breast Surgeons (ASBS)

May 2-6, 2018 
Orlando, FL

PRESENTATION

Medicare patients who do not meet criteria for BRCA1/2 genetic testing have similar rates of clinically actionable findings as those who do meet criteria

Clinican Immunology Society (CIS)

April 26-29, 2018 
Toronto, Canada

POSTER

Expanded genetic testing for primary immunodeficiencies: Findings from a 207-gene next-generation sequencing panel

The American College of Medical Genetics and Genomics (ACMG)

April 10-12, 2018 
Charlotte, NC

POSTERS

PRESENTATIONS

WORLDSymposium

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

Copy number variation analysis by next-generation sequencing enhances molecular diagnostic yield of lysosomal storage disorders

2016 Posters and Presentations

American Society of Human Genetics (ASHG)

October 18-22, 2016
Vancouver BC

POSTERS

National Society of Genetic Counselors (NSGC)

September 28-OCTOBER 1, 2016
Seattle, Washington

POSTERS

presentations

European Society of Human Genetics (ESHG)

May 21-24, 2016
Barcelona, Spain

poster

presentation

Symposium on Hereditary Breast and Ovarian Cancer

May 10-13, 2016
Centre Mont-Royal, Montréal

posters

presentation

American Society of Breast Surgeons (ASBS)

April 13-17, 2016
Dallas, Texas

poster

National Comprehensive Cancer Network® (NCCN)

March 31-April 2, 2016
Hollywood, FL

poster

Society of Gynecologic Oncology (SGO)

March 19-22, 2016
San Diego, CA

poster

Miami Breast Cancer Conference

March 10-13, 2016
Miami Beach, Florida

posters

American College of Medical Genetics and Genomics (ACMG)

March 8-12, 2016
Tampa, Florida

posters

presentation

2014 Posters and Presentations

San Antonio Breast Cancer Symposium (SABCS)

December 9-13, 2014
San Antonio, TX

American Society of Hematology (ASH) Annual Meeting

December 6-9, 2014
San Francisco, CA

Association for Molecular Pathology (AMP) Annual Meeting

November 12-15, 2014
National Harbor, MD

Canadian Association of Genetic Counselors (CAGC) Annual Education Conference

November 4-8, 2014
Vancouver, BC, Canada

The American Society of Human Genetics (ASHG) Annual Meeting

October 18-22, 2014
San Diego, CA

National Society of Genetic Counselors (NSGC) Annual Education Conference

September 17-20, 2014
New Orleans, LA

Human Variome Project (HVP) Meeting

May 19, 2014
Paris, France

American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting

March 25-29, 2014
Nashville, TN

Miami Breast Cancer Conference

March 6-9, 2014
Miami, FL

Pacific Symposium on Biocomputing (PSB)

January 3-7, 2014
The Big Island, HI