Conference Presentations by Medical Specialty - Genetics

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

Email to request a copy 

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

Disclaimer:

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

Disclaimer:

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

Disclaimer:

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

Disclaimer:

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

Disclaimer:

A straightforward method to improve variant calling sensitivity for a MSH2 splicing mutation (c.942+3A>T) using GATK tools

Quest Diagnostics Authors: Buller-Burckle, A, Gerasimova, A, Grupe, A, Moler, E, Rosenthal, SH, Smolgovsky, A
Authors: Gerasimova A, Rosenthal SH, Wolfson D, Smolgovsky A, Grupe A, Buller-Burckle AGerasimova A, Rosenthal SH, Wolfson D, ASmolgovsky A, Grupe A, Buller-Burckle A, Edward Moler E, Elzinga C, Edward Moler E, Elzinga C
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Oncology

Disclaimer:

Re-computing NGS read depth statistics to standardize QC of disparate variant call outputs for clinical genomics applications

Quest Diagnostics Authors: Bhattacharya, A, Gerasimova, A, Moler, E, Nguyen, Q
Authors: Bhattacharya A, Gerasimova A, Nguyen Q, Elzinga C, Moler E
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics

Disclaimer:

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

Quest Diagnostics Authors: Karbassi, I
Authors: Harrison SM, Dolinksy JS, Chen W, Coffey A, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Karbassi I, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Maver A, Mar-Heyming R, McFaddin A, Moyer K, Nagan N, Rentas S, Santani AB, Saunders C, Seppälä EH, Shirts B, Tidwell T, Topper S, Vincent LM, Vinette K and Rehm HL
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics

Disclaimer:

Evaluating Dosage Sensitivity of Genes Associated with Neurodevelopmental Disorders

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Barry C-A,Ahn JW, Brandt T, Cano O, Cao Y, Goodenberger M, Kantarci S, Khan W, Li G, Ngo C, Risheg H, Runke C, Su M, Shen Y, Aradhya S, Thorland E, and Martin CL
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Neurology

Disclaimer:

Detection of Alpha-thalassemia common large deletions by Next Generation Sequencing

Quest Diagnostics Authors: Lacbawan, F, Owen, R
Authors: Rosenthal SH, Gerasimova A, Owen R, Catanese J, Buller-Burckle A, and Lacbawan F
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

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

Disclaimer: