Scientific & Clinical 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.