Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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Maternal Chimerism as a Cause of Confounded Gender Reporting and Gender Discordance in cfDNA Screening

Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Chen, N, Koch, S, Masiello, M, Owen, R, Schonberg, S
Authors: Blazejewski LM, Koch S, Masiello M, Chen N, Schonberg SA, Owen R, Zhang K, Anderson B, Lacbawan FL
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Women's Health/OB/GYN

Looming False Negatives: Reconsidering the clinical significance of synonymous variants

Quest Diagnostics Authors: DiVincenzo, C, Hiller, E, Karbassi, I, Lacbawan, F, Maston, G, Mullen, T
Authors: Maston G, Hiller E, Karbassi I, DiVincenzo C, Mullen T, Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics

Anticipated Positive Rates for Genetic Testing in the General Population: a “Virtual Panel” Approach

Quest Diagnostics Authors: Hellman, A, Mullen, T, Nakles-Taylor, R, Nery, C
Authors: Hiller E, Maston G, Karbassi I, Andrew Hellman A, Nery C, Nakles-Taylor R, Mullen T
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Oncology

Double Heterozygotes and Carriers of Biallelic Pathogenic Variants Identified During Genetic Testing for Hereditary Cancer Risk at a Diagnostic Laboratory

Quest Diagnostics Authors: Buller-Burckle, A, Chen, R, Hiller, E, Karbassi, I, Lacbawan, F, Nakles-Taylor, R, Nery, C, Rion, J
Authors: Nakles-Taylor R, Chen R, Rion J, Hiller E, Nery C, Karbassi I, Buller-Burckle A, Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Oncology

Standards for the Classification and Reporting of Constitutional Copy Number Variants: A ClinGen/ACMG Joint Consensus Recommendation

Quest Diagnostics Authors: , V, Kantarci, S, Nakles-Taylor, R
Authors: Rooney Riggs E, Andersen E, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Neurology

An Unexpected Pathogenic SDHC Variant Detected by Germline Cancer Panel Testing

Quest Diagnostics Authors: Fesko, Y, Hiller, E, Wilson, K
Authors: Haskins, CG; Wilson, K;Hiller, EH, Fesko, Y; Zhang, Q; Hess, CA
Event: NSGC 2018: National Society of Genetic Counselors 37th Annual Conference . Atlanta, GA, November 14-17, 2018

Specialties: Genetics, Oncology

Mild Canavan disease presenting with Ocular Migraines and atypical Brain MRI

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Tanpaiboon P, Sharma R, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM
Event: ACMG 2015: Annual Clinical Genetics Meeting . Salt Lake City, Utah, March 25-27, 2015

Specialties: Genetics, Neurology

A Novel Proteomic Predictor of Cholesterol Efflux Capacity Demonstrates Inverse Association with Cardiovascular Disease

Quest Diagnostics Authors: Bystrom, C
Authors: Jin Z, Collier TS, Dai DLY, Chen V, Hollander Z, Ng RT, McManus BM, Balshaw R, Apostolidou S, Penn MS, Bystrom C
Event: AHA 2018: American Heart Association Scientific Sessions. Chicago, IL, November 10-14, 2018

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Serendipitous Detection of Maternal Tetrasomy 9p as a Result of Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Lacbawan, F, Owen, R
Authors: Harper C, Kahl K, Owen R, Anderson BP, Zhang K, Ghaffari G, Kelly JC, Lacbawan FL
Event: ACMG 2015: Annual Clinical Genetics Meeting . Salt Lake City, Utah, March 25-27, 2015

Specialties: Genetics, Women's Health/OB/GYN

Noninvasive Prenatal Screening: Can we identify fetuses that are mosaic 45,X/46,XY?

Quest Diagnostics Authors: Buller-Burckle, A, Owen, R
Authors: Chen N, Zhang Q, Masiello ML, Buller-Burckle A, Owen R, Quan F
Event: 2018 Association for Molecular Pathology (AMP) Annual Meeting & Expo. San Antonio, TX, November 1-3, 2018

Specialties: Genetics, Women's Health/OB/GYN