Conference Presentations

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

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ACOG 2017: The American College of Obstetricians and Gynecologists Annual Clinical and Scientific Meeting

San Diego, CA, May 6-9, 2017

Confined Placental Trisomy 18 Mosaicism Detected by Maternal Serum and Prenatal cfDNA Screening

Quest Diagnostics Authors: Rabin, D, Strom, C
Authors: Carrie Guy, Megan D. Maxwell, James L. Waurin, Arlene M. Buller-Burckle, Douglas S. Rabin, and Charles M. Strom

Specialties: Women's Health/OB/GYN

ASFA 2017: American Society for Apheresis Annual Meeting

Fort Lauderdale, FL, May 3-6, 2017

Hemostasis Management and Therapeutic Plasma Exchange: Results of a Practice Survey

Authors: Nicole D. Zantek, Edward Wong, Yanhua Li, Leonard I. Boral, Chisa Yamada, Monica Pagano, Laura Cooling, Marian Rollins-Raval, Amy Schmidt, Roy E. Smith, Annika Svennsson, Jason Crane, YanYun Wu

Specialties: Hematology/Hemostasis/Thrombosis

AAN 2017: American Academy of Neurology Annual meeting 2017

Boston, MA, April 22-28, 2017

Clinical Testing for Titin and RyR Autoantibodies in Myasthenia Gravis

Quest Diagnostics Authors: Clarke, NJ, Higgins, JJ
Authors: Amy Goldberger, Keith R. Morneau, Brian G. Sansoucy, Nigel J. Clarke, and Joseph J. Higgins

Specialties: Neurology

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LRP4 Autoimmune Reactivity in a Diverse DSN-Myasthenia Gravis Patient Population

Quest Diagnostics Authors: Clarke, NJ, Higgins, JJ
Authors: Keith R. Morneau, Brian G. Sansoucy, Amy Goldberger, Urzela T. Trela, Nigel J. Clarke, Joseph J. Higgins

Specialties: Neurology

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Analysis of the Repeat Size Distribution of over 82,000 Alleles in the Spinocerebellar Ataxias

Quest Diagnostics Authors: Higgins, JJ
Authors: Zhenyuan Wang, Marc Meservey, Sat Dev Batish, Michelle D. York and Joseph J. Higgins

Specialties: Neurology

Borderline CNBP CCTG Expansions in Myotonic Dystrophy Type 2 in over 16,000 Specimens Analyzed in a Clinical Laboratory

Quest Diagnostics Authors: Higgins, JJ
Authors: Elise M. Nedzweckas, Rebecca Moore, Marc Meservey, Chanan Moffitt, Carly Parnell, Tara McNamara, Nicholas Tiebout, Zhenyuan Wang, Sat Dev Batish and Joseph J. Higgins

Specialties: Neurology

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ACTS 2017: Association for Clinical and Translational Science

Washington, DC, April 19-21, 2017

Big data approaches to defining HIV transmission dynamics among HIV-infected individuals in the mid-Atlantic United States

Authors: Seble G. Kassaye, Zehava Grossman, Soo Rhee, William Meyer III, Princy Kumar, David Katzenstein, Frank Maldarelli, Robert Shafer

Specialties: Health Information Technology, Infectious Disease, Rheumatology/Immunology/Allergy

AACR 2017: American Association for Cancer Research Annual Meeting 2017

Washington, DC, April 1-5, 2017

Validation of a Clinically Actionable-Cancer Core Gene Test for Solid Tumors Facilitating Targeted Molecular Therapy and Immunotherapy

Quest Diagnostics Authors: Catanese, J, Hantash, F, Strom, C
Authors: Ma L, Hua M, Rivera S, Gerasimova A, Nguyen Q, Sunkara S, Lagier R, Smolgovsky A, Wolfson D, Racke F, Strom C, Grupe A, Catanese J, Hantash F

Specialties: Oncology

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ENDO 2017: The Endocrine Society's 99th Meeting & Expo

Orlando, FL, April 1-5, 2017

Serum Insulin and C-Peptide Levels Identify Insulin Resistance in Apparently Healthy Non-Hispanic Whites

Quest Diagnostics Authors: Devlin, J, McPhaul, MJ
Authors: Abbasi F, Shiffman D, Tong C, James Devlin J, Reaven G, McPhaul M

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Mutational Analysis in 46 Pediatric Thyroid Cancer Subjects and Correlations with Age, Ethnicity, and Clinical Presentation

Quest Diagnostics Authors: Hantash, F, Reitz, R
Authors: Kadakia S, Jiang W, Nikita ME, Cheng S-M, Hantash FM, Newbury RO, Reitz RE, Newfield RS

Specialties: Endocrinology, Diabetes & Metabolism, Oncology

ACMG 2017: Annual Clinical Genetics Meeting 2017

Phoenix, AZ, March 21 - 25, 2017

Suspected Gonadal Mosaicism Identified by Abnormal Prenatal Cell-free DNA Screening in 2 Consecutive Pregnancies

Quest Diagnostics Authors: Buller-Burckle, A, Owen, R, Strom, C, Zhang, K
Authors: Anderson B, Owen R, Zhang K, Buller-Burckle A, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

Detection of Fetal Prader-Willi/Angelman Microdeletion and Differentiation of Maternal Distal 15q Deletion by Prenatal Cell-free DNA Screening: Case Report

Quest Diagnostics Authors: Strom, C
Authors: Blazejewski LM, Masiello M, Owen R, Maxwell MD, Guy C, Anderson B, Zhang K, Chen N, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

Trisomy 7 Identified by Prenatal cfDNA Screening: Clinical Management Implications

Quest Diagnostics Authors: Owen, R, Rabin, D, Strom, C, Zhang, K
Authors: Blazejewski LM, Maxwell MD, Guy C, Anderson B, Owen R, Zhang K, Rabin DS, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

Costing the Diagnostic Odyssey: The-NIH Undiagnosed Disease Program Five-Year Experience

Authors: Lacbawan F, Toro C, Landis D, Godfrey R, Wahl C, Nehrebecky M, Groden C, Regier D, Macnamara E, Rowland C , Shiffman D, Garcia V, Adams D, Gahl W and Tifft C

Specialties: Genetics

ACC 2017: American College of Cardiology’s 66th Annual Scientific Session & Expo 2017

Washington DC, , March 17-19, 2017

Atrial Fibrillation Genetic Risk Score and the Burden of Atrial Fibrillation: An ENGAGE AF-TIMI 48 Analysis

Quest Diagnostics Authors: Devlin, J
Authors: Ruff CT, Shiffman D, Devlin JJ, Giugliano RP, Antman EM, Trevisan M, Nordio F, Vandell AG, Mercuri M, Sabatine MS

Specialties: Cardiology

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CROI 2017: The annual Conference on Retroviruses and Opportunistic Infections

Seattle, WA, USA, February 13 - 16, 2017

Undiagnosed HIV and HCV in a New York City emergency room, 2015

Quest Diagnostics Authors: Zhang, K
Authors: Torian LV, Felsen U, Xia Q, Rude E, Rose H, Bocour A, Williams GJ, Bridgforth BF, Forgione LA, Zingman BS

Specialties: Infectious Disease


AHA 2016: American Heart Association, Scientific Sessions

New Orleans, LA, USA, November 12-16, 2016

Prospective Evaluation of a Genetic Risk Score for Atrial Fibrillation in Patients Undergoing Extended Cardiac Rhythm Monitoring

Quest Diagnostics Authors: Devlin, J, Naides, SJ, Wohlgemuth, J
Authors: Muse ED, Emily Spencer G, Wineinger NE, Peters M, Barrett P, Wohlgemuth J, Devlin J, Shiffman D, Topol EJ

Specialties: Cardiology, Genetics

Pediatric Critical Care Colloquium 2016

New York, NY, November 11-13, 2016

Glucocorticoid Prophylaxis Inhibits the Hypothalamic-Pituitary-Adrenal Axis in Neonates Undergoing Cardiopulmonary Bypass

Quest Diagnostics Authors: McPhaul, MJ
Authors: Tang A, Rosenfeld CR, Mikhael M, Forbess J, McPhaul MJ, Koch JD

Specialties: Cardiology

2016 Georgia Cancer Genetics Network Annual Conference

Atlanta, GA, November 4, 2017

Help Me, Help You: Growing Your Practice

Authors: Wilson, Kate

Specialties: Genetics

ASHG 2016: The American Society of Human Genetics Annual Meeting

Vancouver, Canada, October 18-22, 2016

Prospective Analysis of Maternal Duplications Improves Positive Predictive Value in Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Owen, R, Strom, C, Zhang, K
Authors: Maxwell M, Strom CM, Anderson B, Owen R, Zhang K, Lacbawan F

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

NSGC 2016: National Society of Genetic Counselors 35th Annual Education Conference

Seattle, WA, USA, September 28 - October 1st, 2016

Discordant NIPS Results: A consideration of maternal and fetal incidental findings

Quest Diagnostics Authors: Owen, R, Strom, C, Zhang, K
Authors: Maxwell M, Guy C, Anderson B, Owen R, Zhang K, Lacbawan F, Strom C

Specialties: Genetics, Pathology, Laboratory Medicine, Women's Health/OB/GYN

SSIEM 2016: Society for the Study of Inborn Errors of Metabolism Annual Symposium

Rome, Italy, September 6-9, 2016

15 Years’ Experience: Diagnosis of Organic Acidemias at Quest Diagnostics Biochemical Genetics Laboratory

Authors: Sharma R, Salazar DZ, Bonilla-Guerrero R, Davoodi-Semiromi A, Lobo RM, Lee JE Neidich JA, Zhang K, Strom CM

Specialties: Endocrinology, Diabetes & Metabolism, Genetics

ESC 2016: 38th Annual Congress of the European Society of Cardiology

Rome, Italy, August 27, 2016 - August 31, 2016

AACC 2016: 68th Annual Meeting and Clinical Lab Exposition of the American Association for Clinical Chemistry

Philadelphia, PA, July 31, 2016 - August 4, 2016

Impact of risperidone treatment of autistic disorders on metabolic risk factors in children and adolescents

Authors: Srisawasdi P, Vanwong N, Hongkaew Y, Vanavanan S, Intachak B, Ngamsamut N, Limsila P, Sukasem C, Kroll MH

Specialties: Cardiology, Neurology, Pediatrics

AAIC 2016: 19th Annual Alzheimer's Association International Conference

Toronto, Canada, July 24, 2016 - July 28, 2016

Cerebrospinal Fluid Beta Amyloid 40 and 42 Quantitation Using a Novel Stabilization Technique

Authors: Tran D, Weber DM, Goldman S, Sansoucy B, Albi A, Lynn T, Higgins J, Clarke N

Specialties: Geriatrics/Age Management, Neurology, Pathology, Laboratory Medicine

ISPD 2016: 20th Annual International Conference on Prenatal Diagnosis and Therapy

Berlin, Germany, July 10, 2016 - July 13, 2016

ACC 2016: 44th Biennial American Cytogenetics Conference

Sunriver, OR, June 27, 2016 - June 30, 2016

A case report of a complex supernumerary marker chromosome in prenatal testing by chromosomes and SNP array representing constitutional chromoanagenesis.

Quest Diagnostics Authors: Boyar, F, Haddadin, M, Mahon, L, Owen, R
Authors: Haddadin, Mary H, Mahon, Loretta W, Ray, James H, Shirong, Wang, Owen, Renius X, Boyar, Fatih Z, Strom, Charles

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

CuraSMA 2016 (Spinal Muscular Atrophy)

Disneyland, CA, June 16, 2016 - June 18, 2016

Inter-Laboratory Comparison of Assays to Measure SMN1 and SMN2 Copy Number in Dried Blood Spots and Support Pilot Newborn Screening for SM

Quest Diagnostics Authors: Zhang, K
Authors: Golriz K. Yazdanpanah, Mei Liu, Shu-Chuan Chiang, Matthew Evans, Michael Scally, Paul Carmillo, Han Phan, Francis K. Lee, John Carulli, Wuh-Liang Hwu, Yin-Hsiu Chien, Chao Sun, John F. Staropoli, Robert F. Vogt

Specialties: Genetics, Neurology, Pediatrics

ASM Microbe 2016: 1st Annual ASM Microbe

Boston, MA, June 16, 2016 - June 20, 2016

ADA 2016: 76th Annual Scientific Sessions of the American Diabetes Association

New Orleans, LA, June 10, 2016 - June 14, 2016

Pattern of Monogenic Diabetes Test Results from a Large Commercial Testing Laboratory

Authors: McPhaul MJ, Maston GA, Wang Z, Jaremko M, Batish SD, Higgins JJ

Specialties: Endocrinology, Diabetes & Metabolism

ASCO 2016: 52nd Annual Meeting of the American Society of Clinical Oncology

Chicago, IL, June 3, 2016 - June 7, 2016

OncoKB: Annotation of the oncogenic effect and treatment implications of somatic mutations in cancer.

Authors: Chakravarty D, Phillips SM, Gao JJ, Kundra R, Zhang H, Rudolph JE, Yaeger RD, Soumerai T, Nissan MH, Chandarlapaty S, Traina TA, Paik PK, Loh Ho A, Hantash F, Grupe A, Paraiso E, Ladanyi M, Solit DB, Sabbatini P, Schultz N

Specialties: Health Information Technology, Oncology

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CVS 2016: 32nd Annual Clinical Virology Symposium

Daytona Beach, FL, May 19, 2016 - May 22, 2016

ISLH 2016: 19th Annual International Symposium on Technical Innovations in Laboratory Hematology

Milano, Italy, May 12, 2016 - May 14, 2016

PAS 2017: Annual Meeting of the Pediatric Academic Societies

Baltimore, MD, April 30, 2016 - May 3, 2016

AAN 2016: 68th Annual Meeting of the American Academy of Neurology

Vancouver, Canada, April 15, 2016 - April 21, 2016

What is the Current Value Equation for Dementia Diagnosis and Management: Variation in costs across practice types

Authors: Wilson L, Bonasera S, Davis M, Balsamo D, Kassan D, Stallone J, Harry J,. Kurzweil PJ, Higgins J, Rankin K, Warsh J, Kaplan R

Specialties: Geriatrics/Age Management, Neurology

Development of an Expert Consensus Approach to Screening, Assessment, and Diagnosis of Patients At Risk for Neurodegenerative Disease

Quest Diagnostics Authors: Agersborg, S
Authors: Rankin K, Possin K, Geschwind M, Kramer J, Ritchie C, Gearhart R, Rabinowitz N, Bonasera S, Brewer J, Carlsson C, Caselli R, Dickerson B, Fong J, Fredericks C, Gelfand J, Grossman M, Hess C, Higgins J, Huey E, Kaufer D, Lanata S, Lee S, Merrilees J, Naasan G, Ng D, Petersen R, Pressman P, Rosen H, Small G, Stern R, Williams M, Yaffe K, Yokoyama J, Miller B

Specialties: Geriatrics/Age Management, Neurology

Development of diagnostic decision tree for rapidly progressive dementia

Authors: Gelfand J, Fredericks C, Rabinowitz N, Rankin K, Hess C, Paoletti M, Higgins J, Williams G, Miller B, Rosen H, Geschwind M

Specialties: Geriatrics/Age Management, Neurology

Analysis of 141 epilepsy related genes in 390 patients using next generation sequencing

Authors: Wang Z, Jaremko M, Batish SD, Meservey M, McCarthy M, Medeiros AC, Walsh J, Allen S, Rochibaud N, DiVincenzo C, Casiello T, Bazinet M, Doan D, McCarthy M, Karbassi I, Storozuk V, Kacprzyk M, Liaquat K, Hoffman C, Krasner M, Dodge WA, Evans MC, Elzinga C, York M, Braastad C, Higgins JJ

Specialties: Neurology, Pathology, Laboratory Medicine

Analytical Performance of a Genome-Phenome analyzer in a Clinical Laboratory

Authors: Higgins JJ, Wang Z, Jaremko M, Batish SD, York M

Specialties: Genetics, Pathology, Laboratory Medicine

Frequency of FTLD Mutations in a Community Sample versus Specialty Clinic

Authors: Rabinowitz N, Yokoyama J, Karydas A, Coppola G, Bonham L, Fong J, Rankin K, Miller B, Bright A, Karbassi I, Meservey M, Liaquat K, Gallen M, Hoffman C, Krasner M, Dodge W, Higgins JJ

Specialties: Genetics, Neurology

The frequency of damaging genetic variants in a cohort of over 1500 patients with Early Onset Familial Alzheimer’s disease

Authors: Bright A, Karbassi I, Meservey M, Yokoyama J, Rabinowitz N, Bean A, Liaquat K, Gallen M, Hoffman C, Krasner M, Dodge W, Higgins JJ

Specialties: Geriatrics/Age Management, Neurology

ICA 2016: 10th Biennial International Congress on Autoimmunity

Leipzig, Germany, April 6, 2016 - April 10, 2016

ENDO 2016: 98th Annual Meeting and Expo of the Endocrine Society

Boston, MA, April 1, 2016 - April 4, 2016

Validation of a targeted next-generation sequencing test for indeterminate thyroid nodules in a clinical setting

Authors: Cheng S, Qu K, Barlan C, Li H, Taylor JF, Grupe A, Wolfson DA, Smolgovsky A, Sanders HR, Gerasimova A, Nguyen Q, Catanese JJ, Strom CM, Racke FK, Waldman FM, Reitz RE, Hantash FM

Specialties: Endocrinology, Diabetes & Metabolism, Oncology, Pathology, Laboratory Medicine

NCCN 2016: 21st Annual Conference of the National Comprehensive Cancer Network

Hollywood, FL, March 31, 2016 - April 1, 2016

ICVH 2016: 6th International Conferene on Viral Hepatitis

San Francisco, CA , March 14, 2016 - March 15, 2016

ACMG 2016: 23rd Annual Clinical Genetics Meeting of the American College of Medical Genetics

Tampa, FL, Tuesday, March 08, 2016 - March 12, 2016

Analysis of PKD1 and PKD2 Sequencing Variants in Autosomal Dominant Polycystic Kidney Disease

Authors: Lapierre J, Batish S, DiVincenzo C, Dubois F, Karbassi I, Love A, Malgorzata J, Maston G, McCarthy M, Meservey M, Wang Z

Specialties: Endocrinology, Diabetes & Metabolism, Gastroenterology, Genetics, Nephrology

NBSGTS 2016: Association of Public Health Laboratories-2016 Newborn Screening and Genetic Testing Symposium

Albuquerque, NM, February 29, 2016 - March 3, 2016

Inter-Laboratory Comparison of Assays to Measure SMN2 Copy Number in Dried Blood Spots from Patients with Spinal Muscular Atrophy

Quest Diagnostics Authors:
Authors: Yazdanpanah GK, Liu M, Chiang S, Evans M, Scally M, Carmillo P, Phan H, Lee FK, Carulli J, Hwu W-L, Chien Y-H, Sun C, Staropoli JF, Vogt RF

Specialties: Family medicine practitioners, Genetics, Neurology, Pathology, Laboratory Medicine, Pediatrics

MSACL-US 2016: 8th Annual Conference and Exhibits of the Association for Mass Spectrometry: Applications to the Clinical Laboratory

Palm Springs, CA, February 21, 2016 - February 25, 2016


ASHG 2015: American Society of Human Genetics Annual Meeting

Baltimore, MD, October 6 – 10, 2015

Increased Identification of CFTR Mutations Using an Expanded Panel of Validated Pathogenic Mutations

Authors: Weimin Sun, Douglas Rabin, Dana Goos-Root, Taraneh Angeloni, Steve Keiles, Jeff Radcliff, Charles Strom

Specialties: Women's Health/OB/GYN

FIGO World Congress of Gynecology and Obstetrics, 2015

Vancouver, Canada, October 4 – 9, 2015

An Automated, Non-Invasive Prenatal Screening Assay (NIPS) for Trisomy 21,18,13 in singleton and twin gestations

Authors: Ben Anderson, Ke Zhang, Quoclinh Nguyen, David Tsao, Yan Liu, Kayla Livingston, Amanda Albi, Chris Elzinga, Weimin Sun, Corey Braastat, Douglas Rabin, Charles Strom

EULAR 2015: Annual European Congress of Rheumatology

Rome, Italy, June 10-13, 2015

Serum14-3-3eta protein differentiates osteoarthritis from inflammatory arthritis

Authors: S. J. Naides, O. S. Zhukov, J. G. Rivera, R. W. Abolhosn, C. M. Rowland, J. M. Popov, K. D. Michaud

ASM 2015: 115th General Meeting, American Society for Microbiology

New Orleans, Louisiana, May 30-June 2, 2015

Rapid detection of streptococcus pyogenes using the Simplexa™ group A strep direct assay

Authors: C. Cheng, H. Gregson, R. Huang, B. Torres, M. Tabb

Specialties: Infectious Disease

Simplexa® C. difficile direct—a solution for moderate-complexity labs combining real-time PCR detection with simplified workflow

Authors: E. Huang, A. Bologa, Y. Parocua, S. Miller, R. Martin, S. Dempsey, C. Cheng, R. Humphries, M. Tabb

Specialties: Infectious Disease

CVS 2015: 31st Annual Clinical Virology Symposium

Daytona Beach, Florida, April 26-29, 2015

Detection of norovirus in raw stool using the Simplexa™ Norovirus Direct Assay

Authors: Peter Lee, Raymond Huang, Kristin Ramos, Maria Vestal, Jules Chen, Michelle Tabb

Specialties: Infectious Disease

Detection of streptococcus pyogenes by the Simplexa® Group A Strep Direct Assay

Authors: Cindy Cheng, Heather Gregson, Brian Yu, Cristina Austria, Louis Geller, Michelle Tabb

Specialties: Infectious Disease

Evaluation of the Simplexa™ EV & HPeV direct assay that detects enterovirus and parechovirus directly from cerebrospinal fluid specimens

Authors: Mahalakshmi Nair, Cindy Cheng, Thanh Mai Dang, Yvette Parocua, Betsabe Torres, Michelle Tabb

Specialties: Infectious Disease

Comparison of Simplexa™ HSV 1 & 2 direct and culture for detection of HSV in genital swab specimens

Authors: Jules Chen, Yuan Xie, Huong Mai, Brian Yu, Cristina Austria, Dipesh Jaiswal, Louis Geller, Michelle Tabb

AAN 2015: Annual Meeting

Washington, DC, April 18-25, 2015

Variants in the COL6A1, COL6A2, and COL6A3 genes in collagen VI-related congenital muscular dystrophy

Authors: Malgorzata Jaremko, Keith Morneau, Tiffany Smith, Zhenyuan Wang, Funda E. Suer, Carol Hoffman, Khalida Liaquat, Michele McCarthy, Jennifer L. Lapierre, Valerie Storozuk, Marc Meservey, Sat Dev Batish, Joseph Higgins

Specialties: Neurology

Molecular combing compared to southern blot in measuring D4Z4 contractions in FSHD

Authors: Jessica Vasale, Michael Jocson, Fatih Boyar, Khalida Liaquat, Carol Hoffman, Vladimira Sulcova, David Tsao, Kerri C. Hensley, Yan Liu, Patricia Chan, Renius Owen, Corey Braastad, Weimin Sun, Arturo Anguiano, Malgorzata Jaremko, Zhenyuan Wang, Funda E. Sue

Specialties: Neurology

MuSK Autoantibodies in Myasthenia Gravis: Experience with >28,000 Specimens Tested in a Clinical Laboratory

Authors: Amy Goldberger, Brian Sansoucy, Keith Morneau, Kaylan Burnham, Sat Dev Batish, Funda E. Suer, Zhenyuan Wang, Malgorzata Jaremko, Joseph Higgins

Specialties: Neurology

Frequencies of mutations in 20 genes associated with hereditary ataxia: experience from a US clinical laboratory

Authors: Zhenyuan Wang, Marc Meservey, Michele McCarthy, Sat Dev Batish, Malgorzata Jaremko, Funda E. Suer, Joseph Higgins

Specialties: Neurology

The frequency of serum neural autoantibodies in suspected autoimmune epilepsy

Authors: Brian Sansoucy, Malgorzata Jaremko, Kaylan Burnham, Keith Mourneau, Amy Goldberger, Vishal Patel, Zhenyuan Wang, Funda E. Suer, Sat Dev Batish, Joseph J. Higgins

MSACL 2015: Applications to the Clinical Lab. 7th Annual Conference and Exhibits

San Diego, California, March 28 - April 1, 2015

Immunometric IGF-1 measurements frequently misclassify clinical samples compared to a mass spectrometry IGF-1 assay

Authors: Vivien Bonert, John David Carmichael, Odelia Cooper, James Mirocha, Richard E. Reitz, Anne L. Caston-Balderrama, Michael John McPhaul, Michael Phillip Caulfield, Shlomo Melmed

ACMG 2015: Annual Clinical Genetics Meeting

Salt Lake City, Utah, March 25-27, 2015

Gene mutation frequencies and phenotype correlations in ALS patients tested at a clinical laboratory

Authors: Alison Bright, Izabela D Karbassi, Khalida Liaquat, Carol Hoffman, Marc Meservey, Meagan Krasner, Sat Dev Batish, Joseph J Higgins

Specialties: Neurology

Comprehensive MLPA Analysis of PKD1 and PKD2 Deletions and Duplications in Autosomal Dominant Polycystic Kidney Disease

Authors: Funda E Suer, Everhart Tyran, Malgorzata Jaremko, Zhenyuan Wang, Sat Dev Batish, Gregory Park, Macedo Jenna, Mariola Kacprzyk, Glenn Matson, Kellie Johnson, Jennifer Lapierre, Khalida Liaquat, Carol Hoffman, Valerie Storozuk, Marc Meservey, Joseph J. Higg

Specialties: Neurology

Jumping SHOX gene deletion: an unusual inheritance due to crossover in the pseudoautosomal region of X and Y chromosomes

Authors: Dongli Huang, Emily S. Doherty, Erica Reynolds, Eric D. Smith, Howard Walker, Christina Bess, Viktoria Grauer, Daniel M. Jones, Philip N. Mowrey

Specialties: Women's Health/OB/GYN

Incidence and patterns of ROS1 FISH abnormalities in 648 cases of lung adenocarcinoma

Authors: Jie Xu, Joey C. Kelly, Julie L. Cox, Eric A. Smith, Marc A. Sanidad, Daniel M. Jones, Philip N. Mowrey

BRCA1/BRCA2 mutation analysis by NGS: lack of false-positive results suggests confirmation not required

Authors: Charles M. Strom, Taraneh Angeloni, Corey Braastad, Linda Cheng, Christopher Elzinga, Jamie Platt, David Ross, Martin Siaw, Weimin Sun, Steven Rivera, Sun-hee Rosenthal, Dana Goos-Root

Endo 2015: 97th Annual Meeting of the Endocrine Society

San Diego, California, March 5-8, 2015

A high-throughput mass spectrometry multiplexed assay to measure insulin and C-peptide

Authors: Steven W. Taylor, Richard E. Reitz, Nigel J. Clarke, Michael John McPhaul