Counsyl Research

Counsyl is dedicated to sharing data with the medical community through research and scientific collaboration. We have published our findings in several peer-reviewed scientific journals, including Genetics in Medicine, the American Journal of Medical Genetics, Genetic Testing and Molecular Biomarkers, and Fertility and Sterility. The authors from Counsyl have been invited to present at the annual conferences of the American Society of Human Genetics, the American College of Medical Genetics, the Association for Molecular Pathology, the National Society of Genetic Counselors, the American Society of Reproductive Medicine, and the Society for Maternal and Fetal Medicine. Outside of the US, we have had the honor of presenting at the International Society for Prenatal Diagnosis in Portugal.

Publications

  • Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS. Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. bioRxiv. (2016). link
  • Lazarin GA, Haque IS, Evans EA, Goldberg JD. Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. bioRxiv. (2016). link
  • Beauchamp KA, Muzzey D, Wong KK, Hogan GJ, Karimi K, Candille SI, Mehta N, Mar-Heyming R, Kaseniit KE, Kang HP, Evans EA, Goldberg JD, Lazarin GA, Haque IS. Systematic Design and Comparison of Expanded Carrier Screening Panels. bioRxiv. (2016). link
  • Wong KK, Goldberg JD, Evans EA, Kang HP, Haque IS. 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.) Genetic Testing and Molecular Biomarkers. 2016, 20(8), 413–414. link
  • Ghiossi C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples. bioRxiv. (2016). link
  • Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. JAMA. 2016;316(7):734-742. link
  • Kaseniit KE, Theilmann MR, Robertson A, Evans EA, Haque IS. Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening. Clin Chem 62(10):1401-1408 (2016). link
  • Mehta N, Lazarin GA, Spiegel E, Berentsen K, Brennan K, Giordano J, Haque IS, Wapner R. Tay-Sachs carrier screening by enzyme and molecular analyses in the New York City minority population. Genet Test and Molec Biomarkers 20(9): 504-509. (2016). link
  • Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA. Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing. PeerJ 4:e2162; 28 June 2016. link
  • Arjunan A, Litwack K, Collins N, Charrow J. Carrier Screening in the Era of Expanding Genetic Technology. Genetics in Medicine 2016. Published online April 7 2016. link
  • Lazarin GA, Goldberg JD. Current controversies in traditional and expanded carrier screening. Curr Opin Obstet Gynecol. 2016 Apr;28(2):136-41. link
  • Rabideau MM, Wong K, Gordon ES, Ryan L. Genetic Counselors in Startup Companies: Redefining the Genetic Counselor Role. Journal of Genetic Counseling. 25: 649 (2016). link
  • Lazarin GA, Haque IS. Expanded carrier screening: A review of early implementation and literature. Semin Perinatol. 2016 Feb;40(1):29-34. link
  • Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E. Genetic counselors' perspectives and practices regarding expanded carrier screening after initial clinical availability. J Genet Counsel. 2016 Apr;25(2):395-404. link
  • Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenatal Diagnosis 2015(35): 1-5. link
  • Understanding the Basics of NGS: From Mechanism to Variant Calling. Muzzey D, Evans EA, Lieber C. Current Genetic Medicine Reports 2015. link
  • Systematic classification of disease severity for evaluation of expanded carrier screening panels. Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS. PLoS ONE 2014; 9(12):e114391. link
  • Response to Stoll and Resta. Lazarin GA, Haque IS, Nazareth S, Evans EA. Genetics in Medicine 2013;15:319-320. link
  • An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS. Genetics in Medicine 2013;15:178-186. link
  • Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing. Klugman S, Scheiber-Agus N, Nazareth S, Evans EA. Genetic Testing and Molecular Biomarkers 2013;17:1-5. link
  • Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers. Ready K, Haque IS, Srinivasan BS, Marshall JR. Fertility and Sterility 2012;97:407-413 link
  • Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. Lacassie Y, Storment JM, Lazarin GA. American Journal of Medical Genetics Part A 2011;155:3136-3138. link
  • 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 2010;21:537-551. link

Presentations

2017

  • 1 in 550 pregnancies: using 346,790 expanded carrier screens to estimate the risk of Mendelian conditions. Haque IS. SMFM 2017.

2016

  • Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples. Wong KK, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Ghiossi C. ASHG 2016.
  • The frequency of incidental findings in carrier screening. Wong KK, Lazarin GA, Haque IS. ASRM 2016.
  • How narrow the divide: Cross-lab concordance for inherited cancer panel genes in ClinVar. Judkins M, Castiblanco J, Candille S, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R. NSGC 2016.
  • Overcoming artificial selection to realize the potential of inherited cancer screening. Haque IS. AGBT Precision Health 2016.
  • Clinical utility of expanded carrier screening: reproductive decisions of at-risk carrier couples. Lazarin GA. ESHG 2016.
  • The Hexosaminidase A Variants of Unknown Significance (HAVUS) Classification Project. E Smith E, Mehta N, Grinzaid K, Hardy M, Lazarin GA, Haque IS. ACMG 2016.
  • An Online Results Delivery and Counseling System May Increase Access to Hereditary Cancer Testing and Genetic Counseling. Ready K, Berentsen K, Denne E, Lazarin GA, Haque IS, Goldberg JD. ACMG 2016.
  • Where are the Patients? Discrepancies Between Carrier Frequencies and Live Birth Incidence. Lazarin GA. ACMG 2016.

2015

  • Will the Real Testing Cost Please Stand Up? Freschi B, Goldenberg S, Martini L. NSGC 2015.
  • When Worlds Collide: Genetic Counseling and Testing Conundrums in Identifying Cancer Risk for the Prenatal, Pediatric, and Cancer Genetic Counselor. Maxwell K, Dubbs H, Ready K. NSGC 2015
  • Smith-Lemli-Opitz syndrome is as common in Caucasians and Ashkenazi Jewish as spinal muscular atrophy: accurate carrier frequencies identified through expanded carrier screening. Lazarin GA, Haque IS, Evans EA, Goldberg JD. NSGC 2015.
  • Smith-Lemli-Opitz syndrome causes "idiopathic" prenatal lethality: a call for carrier screening. Lazarin GA. ASRM 2015.
  • "Rare" disease is common: Results from 388,994 Expanded Carrier Screens of up to 108 Genes. Haque IS. ASRM 2015
  • Detection Rate for Prevalent Diseases Has Greater Impact Than Panel Size on the Efficacy of Expanded Carrier Screens. Muzzey D. ASRM 2015.
  • An NGS-based Carrier Screen for Congenital Adrenal Hyperplasia with 95% Detection Rate. Muzzey D. ASHG 2015.
  • Everybody Mutates: The Utility of Carrier Screening for Egg and Sperm Donors. Pierson S. AATB 2015.
  • Incidence of profound and severe diseases greatly exceeds cystic fibrosis: updated data on expanded carrier screening of 311,688 individuals. Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg J. ISPD 2015.
  • Accurate carrier frequency estimates for Smith-Lemli-Opitz syndrome. Lazarin GA, Haque IS, Evans EA, Goldberg J. ISPD 2015.
  • Can/Do: the disconnect between what we can and what we do in prenatal care. Haque IS. ChildX 2015.

2014

  • Expanded Carrier Screening: Experience and Implementation. Lazarin GA. Prenatal Molecular Diagnostics Conference 2014.
  • Laboratories and Industry: Depth and Variety of Genetic Counseling Career Opportunities. Mitchell E, Conta J, Kotzer K, Ready K, Swanson A, Riggs E, Zaleski C. NSGC 2014.
  • Update on Expanded Carrier Screening Experience and Implementation. Evans EA, Wong K, Lazarin GA. Fetoscopy 2014.
  • Puppet Modules: Apps for Ops. Bronn J. PyCon 2014, Montreal, QC. 11 Apr 2014.
  • Performance of next-generation sequencing versus targeted genotyping for population carrier screening. Lazarin GA, Haque IS, Kang HP, Evans EA. ACMG 2014.
  • Expanded carrier screening: genetic counselors' perspectives with early clinical availability. Detweiler S, Lazarin GA, Nazareth SB, Yao X, Seymour C, Ashkinadze E. ACMG 2014.
  • Don't worry, we're from the Internet: Using digital services to realize the promise of genomics for public health. Haque IS. University of Washington Institute for Public Health Genetics. 21 Jan 2014.

2013

  • Beyond the dict: Python tools to wrangle data from CSV up. Haque IS. PyData NYC 2013, New York, NY. 10 Nov 2013.
  • The worldwide burden of Mendelian disease: Data on 423 variants in 114,879 clinical patients. Haque IS and Maguire J. Broad Institute, 17 Oct 2013.
  • Taking population genomics to web scale. Haque IS. cBio @ Memorial Sloan-Kettering Cancer Center. New York, NY. 13 Jun 2013.
  • Technology and innovative communication in genetic counseling: beyond telemedicine. Fecteau H, Ready K, Hazell ADJ. NSGC 2013.
  • Mapping the undiscovered country -- 100,000 pan-ethnic clinical screens: New tools to discover genetic disease. Haque IS. Association of Clinical Scientists Annual Meeting, 23 May 2013, Boston, MA.
  • The ART of Genetics: expanded carrier screening. Lazarin GA. ASRM 2013.
  • Expanded universal carrier screening. Lazarin GA. ISPD 2013.
  • Sequencing makes Moore's Law look slow: Lessons from Counsyl's first 100,000 medical genomes. Haque IS. Center for Networked Systems at UC San Diego. 15 Jan 2013.

2012

  • An empirical estimate of carrier frequencies for 100+ recessive diseases: results from an ethnically diverse clinical sample of 25,000 individuals. Lazarin GA, Srinivasan BS, Evans EA. ACMG 2012.
  • Pan-ethnic expanded carrier screening. Nazareth SB, Lazarin GA, Flanagan J, Moyer K. NSGC 2012

2011

  • Ethnicity based carrier screening for Ashkenazi Jewish diseases using ACOG or ACMG guidelines: what are we missing? Lazarin GA, Wong K, Nazareth SB, Ready K, Marshall J. NSGC 2011.

2010

  • Clinical utility and practical considerations of high-throughput carrier screening. Ashkinadze E, Gonzalez K, Keiles S, Lazarin GA, Seymour C, Srinivasan R. NSGC 2010.

Posters

2017

SMFM

  • Beauchamp KA, Grauman P, Haas KR, Hogan GJ, Gould GM, Lazarin GA, Wong K, Evans EA, Goldberg JD, Haque IS, Muzzey D. The impact of copy number analysis in expanded carrier screening. link.

2016

AMP

  • Castiblanco J, Judkins M, Candille S, Beaumont C, Olson E, Evans EA, Haque IS, H. Kang HP, Mar-Heyming R. Validation of internal laboratory variant classifications using ClinVar. link.
  • Gould G, Wang X, Grauman P, Hogan G, Robertson A, Maguire J, Kang HP, Haque IS, Evans EA. Using simulation for improved design of clinical next-generation sequencing panels. link.
  • Haque IS, Haverty C, Goldberg JD, Evans EA. How positive is your prediction? Computing confidence intervals on positive predictive value for non-invasive prenatal screening. link.

ASHG

  • Comparing the clinical yield of carrier screening: genotyping versus exon sequencing. Beauchamp KA, Lazarin GA, Kang HP, Wong K, Evans EA, Goldberg JD, Haque IS. link.
  • How molten is the pot? Analyzing self-reported and genetic ancestry of individuals and reproducing couples in the USA. Kaseniit KE, Nazareth S, Lo C, Wong K, Goldberg JD, Evans EA, Haque IS. link.
  • Computing confidence intervals on positive predictive value for non-invasive prenatal screening. Haque IS, Haverty C, Goldberg JD, Evans EA. Top 10% abstract link.
  • Clinical consequences of whole-genome sequencing vs. SNP methods of noninvasive prenatal screening. Artieri CG, Haverty C, Beauchamp KA, Haque IS, Muzzey D. link.
  • Pre-test genetic counseling as a requirement for germline hereditary cancer testing: what do patients do? Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K. Top 10% abstract link.

ASRM

  • Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples. Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. ASRM 2016. link.

NSGC

  • Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples. Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. NSGC 2016. link.
  • When mating is not so random: coupling patterns across ethnicities in the US population. Lo C, Kaseniit KE, Goldberg JD, Haque IS. NSGC 2016. link.
  • A comparison of self-reported ethnicity and genetic ancestry. Kaseniit KE, Lo C, Nazareth S, Wong KK, Haque IS. NSGC 2016. link.
  • Design and enhanced validation of a 36-gene guideline-compliant inherited cancer panel. Gould G, Hogan G, Wang X, Robertson A, Theilmann M, Spurka L, Grauman P, Vysotskaia V, Leggett M, Maguire J, Kang HP, Haque IS, Ready K, Evans EA. NSGC 2016. link.
  • Pretest genetic counseling as a prerequisite for hereditary cancer testing: what do patients do?. Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K. NSGC 2016. link.
  • How positive is your prediction? Computing confidence intervals on positive predictive value for non-invasive prenatal screening. Haque IS, Haverty C, Goldberg JD, Evans EA. NSGC 2016. link.
  • The frequency of incidental findings in carrier screening. Wong KK, Lazarin GA, Haque IS. NSGC 2016. link.
  • Comparing the clinical yield of carrier screening: genotyping versus exon sequencing. Beauchamp KA, Lazarin GA, Kang HP, Wong KK, Evans EA, Goldberg JD, Haque IS. NSGC 2016. link.
  • Variant classification in an unaffected population, an example from expanded carrier screening and a comparison to ClinVar classifications. Candille C, Judkins M, Castiblanco J, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R. NSGC 2016. link.

ACMG

  • Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples. Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Wong, KK. ACMG 2016. link. Received Top Rated Abstract Award.
  • When cost is no barrier: Uptake in a metropolitan-area free inherited cancer screening program. Pierson S, Berentsen K, Denne E, Nguyen W, Ready K, Goldberg JD, Haque IS. ACMG 2016. link
  • Putting guidelines into action: Accurate computation of individualized positive predictive value for aneuploidy screening in cell-free DNA. Lo C, Evans EA, Schmitt C, Haverty C, Haque IS, Goldberg JD. ACMG 2016. link. Received Top Rated Abstract Award.
  • Design and validation of an improved non-invasive prenatal screen for fetal aneuploidy. Oyolu C, Azarshahy M, Bremner C, Chou E, Contreras D, Copeland N, D'Auria K, Hite D, Hogan G, Horn A, Jun C, Lai H, Lee A, Lui K, Muzzey D, O’Donoghue S, Tran T, Wan H, Haverty C, Haque IS, Evans EA. ACMG 2016. link
  • Design of scalable gene panels for carrier screening. Mehta N, Muzzey D, Leggett M, Wong KK, Lazarin GA, Evans EA, Haque IS. ACMG 2016. link
  • Genomic variant annotation using semi-supervised clustering outperforms existing consensus and variant-type-specific methods. Vikram S, Rasmussen M, Evans EA, Haque IS. ACMG 2016. link

2015

  • Curation and Classification of Inherited Disease Variants in a High-throughput Clinical-Grade Genetic Screening Laboratory Environment. Karimi K, Kang HP, Haque IS, Evans EA. Biocuration 2015. link
  • An NGS-based carrier screen for Congenital Adrenal Hyperplasia with 95% detection rate. Muzzey D, Theilmann MR, D'Auria KM, Lai HH, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR. AMP 2015. link
  • Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants. Maguire JR, D'Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015. link
  • NGS-based carrier screen for Gaucher’s disease calls variants and detects large rearrangements between GBA and GBAP1. D'Auria KM, Theilmann MR, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR, Muzzey D. AMP 2015. link
  • Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy. Wang X, Wan HY, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015. link
  • A unique service delivery model for genetic counseling services. Denne EW, Gilats M, Lazarin GA, Goldberg JD. NSGC 2015. link
  • Next-generation counseling: increased efficiency and high patient satisfaction utilizing web technology and telephone for post-test counseling and education in carrier and inherited cancer screening. Lazarin GA, Gilats M, Ready K, Denne EW, Haque IS. link
  • Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants. Maguire JR, D'Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015. link
  • Carrier screening of 346,790 individuals reveals greater risk of severe recessive disease than of Down syndrome or NTDs. Haque IS, Lazarin GA, Raia M, Bellerose H, Muzzey D, D'Auria K, Kang HP, Evans EA, Goldberg JG. ASHG 2015. Reviewer's Choice Abstract. link
  • All FMR1 premutations are not equal: Impact of frequency and repeat distribution on fragile X syndrome risk. Lazarin GA, Wong KK, Haque IS. ASHG 2015. link
  • NGS-based carrier screen for Gaucher's disease calls variants and detects large rearrangements between GBA and GBAP1. D'Auria K, Theilmann M, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire J, Muzzey D. ASHG 2015. link
  • Next-generation counseling: increased efficiency and high patient satisfaction utilizing web technology and telephone for post-test counseling and education in carrier and inherited cancer screening. Gilats M, Lazarin GA, Ready K, Denne EW, Haque IS. ASHG 2015. link
  • Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy. Wang X, Wan HW, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015. link
  • Next-generation counseling: a model for genomic screening tests results disclosure and patient management. Lazarin GA, Haque IS. ISPD 2015.
  • Expanded carrier screening of 322,484 individuals: the case for going beyond CF. Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg J. ESHG 2015. Best Poster Award Candidate. link

2014

  • Whole-exon haplotype calling for clinical next-generation sequencing. Maguire J, Gibiansky A, Rasmussen M, Evans EA, Haque IS. ASHG 2014.
  • Tay-Sachs carrier screening by enzyme and molecular analyses in the New York City Black population. Lazarin GA, Spiegel E, Berentsen K, Brennan K, Mehta N, Haque IS, Wapner R. ASHG 2014.
  • Next-generation sequencing for inherited cancer risk assessment: Under the hood at Counsyl. Maguire J. ASCO Breast 2014.
  • Clinical next-generation sequencing assay development - understanding error modes and establishing analytical validity. Maguire J, Evans EA, Haque IS, Kang HP, Patterson AS. ACMG 2014.
  • Observed population admixture in over 150,000 clinical samples: implications for screening guidelines. Haque IS, Davison D, Maguire J, Evans EA. ACMG 2014.
  • Automated recuration and reclassification of genetic variants. Brezo J, Patterson AS, Kaleta P, Rasmussen M, Kang HP, Evans EA. ACMG 2014.
  • Expanded carrier screening: genetic counselors' personal perspectives. Ashkinadze E, Detweiler S, Nazareth SB, Yao X, Seymour C, Lazarin GA. ACMG 2014.
  • Expanded carrier screening: genetic counselors' perspectives on panel content. Nazareth SB, Lazarin GA, Detweiler S, Ashkinadze E. ACMG 2014.
  • Expanded carrier screening: how genetic counselors view their roles. Yao X, Detweiler S, Lazarin GA, Nazareth SB, Seymour E, Ashkinadze E. ACMG 2014.
  • Carrier screening for "Jewish" diseases in non-Jewish populations: findings from pan-ethnic population screening. Lazarin GA, Ready K, Sheikh MA, Haque IS, Evans EA. SMFM 2014.
  • Strategies for population-wide genetic carrier screening: a cost-effectiveness analysis. Weisinger R, Sheikh MA, Wong K, Evans EA, Haque IS, Pyeritz RE, Srinivasan R. SMFM 2014. - link

2013

  • Automated population-scale screening for fragile X: validation and experience on 76,421 samples. Patterson SA, Theilmann MR, Chen Z, Haque IS. AMP 2013.
  • The worldwide burden of Mendelian disease: 423 variants in 114,934 ethnically diverse samples. Haque IS, Lazarin GA, Davison D, Maguire J, Evans EA. AMP 2013.
  • Validation of and initial experience with a next-generation-sequencing-based 98-gene expanded carrier screening assay. Kang HP, Maguire J, Tritt J, Foo CS, Patterson AS, Evans EA. AMP 2013.

2012

  • Comparison of the collective incidence of diseases in a multi-disease carrier screening panel to trisomy 21, 18 and 13: implications for screening recommendations. Ready K, Nazareth S, Wong K, Evans L, Lazarin GA. NSGC 2012
  • Prevalence of single gene disorders among patients seeking infertility treatment. Torrealday S, Lazarin GA, Patrizio P. ASRM 2012.

2011

  • Diagnosis of mild recessive multiple epiphyseal dysplasia through parental targeted screening test: case report. Lacassie Y, Storment J, Lazarin GA. ACMG 2011.
  • Consanguinity as a primary clinical indication for high-throughput carrier screening. Ashkinadze E, Seymour C, Lazarin GA, Marshall J, Rosen T, Santolaya J. ACMG 2011.
  • A survey of genetic counselors' attitudes and interest toward high-throughput carrier screening. Ashkinadze E, Seymour C, Srinivasan R, Lazarin GA. ACMG 2011.
  • A retrospective analysis of results for 1,916 individuals tested for expanded genetic carrier screening. Marshall JR, Lazarin GA, Jacobson J, Patrizio P, Srinivasan BS. SMFM 2011.

2010

  • A population-based cost-effectiveness analysis of four preconception Mendelian-recessive carrier screening strategies. Marshall JR, Chang CC, Jacobson J, Wan J, Srinivasan R. ACOG 2010.

Conference abbreviations

  • ACMG = American College of Medical Genetics and Genomics Annual Clinical Meeting
  • ACOG = American Congress of Obstetricians and Gynecologists Annual District Meeting
  • AGBT = Advances in Genome Biology and Technology
  • AMP = Association for Molecular Pathology Annual Meeting
  • ASCO Breast = American Society of Clinical Oncology Breast Cancer Symposium
  • ASHG = American Society of Human Genetics Annual Meeting
  • ASRM = American Society for Reproductive Medicine Annual Meeting
  • ESHG - European Society of Human Genetics
  • ISPD = International Society for Prenatal Diagnosis 17th International Conference on Prenatal Diagnosis and Therapy
  • NSGC = National Society of Genetic Counselors Annual Education Conference
  • SMFM = Society of Maternal-Fetal Medicine Annual Pregnancy Meeting