Publications by Author

These publications were authored or co-authored by Quest Diagnostics staff.

A-C D-F G-I J-L M-O P-R S-U V-X Y-Z

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Mol Cytogenet 2017;10:33

Specialties: Genetics, Neurology, Pediatrics

Quest Diagnostics Authors: Anguiano, A, Boyar, F, El, N, Haddadin, M, Hemmat, M, Kopita, A, Mahon, L, Owen, R, Ross, L, Sahoo, T, Strom, C, Wang, T, Wang, J
Authors: Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Eur J Hum Genet 2015;23:663-671

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

Authors: Jones RS, Shier KL, Master RN, Bao JR, Clark RB.

Current significance of the Mycobacterium chelonae-abscessus group.

Diagn Microbiol Infect Dis. 2019 Jul;94:248-254. doi: 10.1016/j.diagmicrobio.2019.01.021. Epub 2019 Feb 10

Specialties: Infectious Disease

Authors: Jones RS, Shier KL, Master RN, Bao JR, Clark RB

Current Significance of the Mycobacterium chelonae-abscessus complex

Diagn Microbiol Infect Dis 2019 Feb 10: pii: S0732-8893(19)30133-6. doi: 10.1016/j.diagmicrobio.2019.01.021. [Epub ahead of print]

Specialties: Infectious Disease

Authors: Bao JR, Master RN, Azad KN, Schwab DA, Clark RB, Jones RS, Moore EC, Shier KL

Rapid, Accurate Identification of Candida auris by Using a Novel MALDI-TOF Database (Library).

J Clin Microbiol. 2018 Mar 26;56(4). pii: e01700-17

Specialties: Infectious Disease

Authors: McClure FL, Niles JK, Kaufman HW, Gudin J.

Concurrent Use of Opioids and Benzodiazepines: Evaluation of Prescription Drug Monitoring by a United States Laboratory

J Addict Med. 2017 Nov 11(6):420-426. [Epub Oct 27, 2017]

Specialties: Toxicology/Pain Management

Read the Key Summary (Download PDF)

Authors: Wu Z, Sanders H, Motorykin I, Caulfield MP, McPhaul MJ

Detection of Insulin-Like Growth Factor 1 Variants by Mass Spectrometry: Results from a Clinical Reference Laboratory.

CLin Chem. 2019 Jun 24 doi: 10.1373/clinchem.2019.302539. [Epub ahead of print]

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Dichtel LE, Schorr M, Loures de Assis C, Rao EM, Sims JK, Corey KE, Kohli P, Sluss PM, McPhaul MJ, Miller KK.

Plasma Free Cortisol in States of Normal and Altered Binding Globulins: Implications for Adrenal Insufficiency Diagnosis.

J Clin Endocrinol Metab 2019 Apr 22 doi: 10.1210/jc.2019-00022. [Epub ahead of print]

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Gastroenterology

Authors: Tang A, Rosenfeld CR, Mikhael M, McPhaul MJ, Koch JD.

Adrenal insufficiency in neonates undergoing cardiopulmonary bypass and postoperative hypothalamic-pituitary-adrenal function after prophylactic glucocorticoids.

J Perinatol. 2019 Mar; doi: 10.1038/s41372-019-0344-7. [Epub ahead of print]

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Pediatrics, Women's Health/OB/GYN

Authors: Bril F, McPhaul MJ, Caulfield MP, Castille JM, Poynard T, Soldevila-Pico C, Clark VC, Firpi-Morell RJ, Lai J, Cusi K.

Performance of the SteatoTest, ActiTest, NashTest and FibroTest in a multiethnic cohort of patients with type 2 diabetes mellitus.

J Investig Med. 2018 Oct 10 [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism

Authors: Abbasi F, Shiffman D, Tong CH, Devlin JJ, McPhaul MJ.

Insulin Resistance Probability Scores for Apparently Healthy Individuals.

J Endocr Soc. 2018 Aug 9;2(9):

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Shiffman D, Tong CH, Rowland CM, Devlin JJ, Meigs JB, McPhaul MJ

Elevated Hemoglobin A1c Is Associated With Incident Diabetes Within 4 Years Among Normoglycemic, Working-age Individuals in an Employee Wellness Program

Diabetes Care 2018 Jun;41(6):e99-e100. doi: 10.2337/dc17-2500. Epub 2018 Apr 26.

Specialties: Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Bril F, Millán L, Kalavalpalli S, McPhaul MJ, Caulfield MP, Martinez-Arranz I, Alonso C, Ortiz Betes P, Mato JM, Cusi K.

Use of a Metabolomic Approach to Non-invasively Diagnose Nonalcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus.

Diabetes Obes Metab. 2018 Mar 12. doi: 10.1111/dom.13285. [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Hawkes CP, Grimberg A, Kenny LC, Kiely M, Hourihane JOB, Irvine AD, McPhaul MJ, Caulfield MP, Zemel BS, Murray DM.

The relationship between IGF-I and -II concentrations and body composition at birth and over the first 2 months.

Pediatr Res. 2019 Feb 11. doi: 10.1038/s41390-019-0331-x. [Epub ahead of print]

Specialties: Cardiology, Pediatrics

Read the Key Summary (Download PDF)

Authors: Hawkes CP, Murray DM, Kenny LC, Kiely M, O'B Hourihane J, Irvine AD, Wu Z, Argon Y, Reitz RE, McPhaul MJ, Grimberg A.

Correlation of Insulin-Like Growth Factor-I and -II Concentrations at Birth Measured by Mass Spectrometry and Growth from Birth to Two Months.

J Horm Res Paediatr. 2018 Jan 18. doi: 10.1159/000486035. [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Bonert V, Carmichael J, Wu Z, Mirocha J, Perez DA, Clarke NJ, Reitz RE, McPhaul MJ, Mamelak A

Discordance between mass spectrometry and immunometric IGF-1 assay in pituitary disease: a prospective study.

Pituitary 2018;21(1):65-75.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Leong A, Daya N, Porneala B, Devlin JJ, Shiffman D, McPhaul MJ, Selvin E, Meigs JB

Prediction of Type 2 Diabetes by Hemoglobin A1c in Two Community-Based Cohorts.

Diabetes Care. 2017 Oct; doi: 10.2337/dc17-0607. [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Peechakara S, Bena J, Clarke NJ, McPhaul MJ, Reitz RE, Weil RJ, Recinos P, Kennedy L, Hamrahian AH

Total and free cortisol levels during 1 μg, 25 μg, and 250 μg cosyntropin stimulation tests compared to insulin tolerance test: results of a randomized, prospective, pilot study.

Endocrine 2017 Jul 20. doi: 10.1007/s12020-017-1371-9. [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism

Read the Key Summary (Download PDF)

Authors: Ahmad Z, Xing C, Panach K, Kittler R, McPhaul MJ, Wilson JD

Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family

J Endocr Soc 2017;7:836–842

Specialties: Endocrinology, Diabetes & Metabolism

Authors: Nikita ME, Jiang W, Cheng SM, Hantash FM, McPhaul MJ, Newbury RO, Phillips SA, Reitz RE, Waldman FM, Newfield RS

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

Thyroid. 2016;26:227-34

Specialties: Oncology, Pediatrics

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Adv Genomics Genet. 2018 Oct 25 vol 8:23–33

Specialties: Genetics, Geriatrics/Age Management, Neurology

Read the Key Summary (Download PDF)

Authors: Havens PL, Stephensen CB, Van Loan MD, Schuster GU, Woodhouse LR, Flynn PM, Gordon CM, Pan CG, Rutledge B, Harris DR, Price G, Baker A, Meyer WA 3rd, Wilson CM, Hazra R, Kapogiannis BG, Mulligan K;

Vitamin D3 Supplementation Increases Spine Bone Mineral Density in Adolescents and Young Adults With Human Immunodeficiency Virus Infection Being Treated With Tenofovir Disoproxil Fumarate: A Randomized, Placebo-Controlled Trial.

Clin Infect Dis. 2018 Jan 6;66(2):220-228.

Specialties: Infectious Disease, Pediatrics, Rheumatology/Immunology/Allergy

Authors: Levin MJ, Huang S, Moscicki AB, Song LY, Read JS, Meyer WA, Saah AJ, Richardson K, Weinberg A; IMPAACT P1085 Protocol Team.

Four-year persistence of type-specific immunity after quadrivalent human papillomavirus vaccination in HIV-infected children: Effect of a fourth dose of vaccine.

Vaccine. 2017;35:1712-1720

Specialties: Infectious Disease, Pediatrics, Rheumatology/Immunology/Allergy

Authors: Tassiopoulos K, Huo Y, Braun J, Williams PL, Smith R, Aschengrau A, Nichols S, Hazra R, Meyer WA, Knapp K, Deygoo NS, Seage Iii GR.

Blood lead levels and neurodevelopmental function in perinatally HIV-exposed, uninfected children in a US-based longitudinal cohort study.

AIDS Res Hum Retroviruses. 2017 Mar 21. doi: 10.1089/AID.2016.0265. [Epub ahead of print]

Specialties: Infectious Disease, Neurology, Pediatrics, Toxicology/Pain Management

Authors: Levin MJ, Huang S, Moscicki AB, Song LY, Read JS, Meyer WA, Saah AJ, Richardson K, Weinberg A

Four-Year Persistence of Type-Specific Immunity After Administration of Quadrivalent Human Papillomavirus Vaccine to HIV-infected Children: Effect of a Fourth Dose of Vaccine

Vaccine 2017;35:1712-1720

Specialties: Infectious Disease, Pediatrics

Authors: Melvin AJ, Montepiedra G, Aaron L, Meyer WA 3rd, Spiegel HM, Borkowsky W, Abzug MJ, Best BM, Crain MJ, Borum PR, Graham B, Anthony P, Shin K, Siberry GK; P1063 Study Team.

Safety and efficacy of atorvastatin in HIV-infected children and youth with hyperlipidemia.

J Pediatr. 2016;175:173-81

Specialties: Cardiology, Infectious Disease, Pediatrics

Authors: Saini NY, Cerny J, Furtado VF, Desmond A, Zhou Z, Raffel G, Puthawala I, Bednarik J, Shanahan L, Miron PM, Woda B, Ramanathan M, Nath R.

Elderly do benefit from induction chemotherapy: High dose mitoxantrone-based ("5 + 1") induction chemotherapy regimen in newly diagnosed acute myeloid leukemia.

Am J Hematol. 2019 Feb;94:209-215.

Specialties: Geriatrics/Age Management, Oncology

Quest Diagnostics Authors: Moore, A
Authors: Ekins S, Litterman NK, Arnold RJ, Burgess RW, Freundlich JS, Gray SJ, Langley B, Willis DE, Notterpek L, Pleasure D, Sereda MW

A brief review of recent Charcot-Marie-Tooth research and priorities.

F1000Res 2015;4:53

Specialties: Infectious Disease, Neurology, Pathology, Laboratory Medicine

Authors: Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.

Am J Physiol Cell Physiol. 2019 May 15. doi: 10.1152/ajpcell.00074.2019. [Epub ahead of print]

Specialties: General Health and Wellness, Genetics

Read the Key Summary (Download PDF)

Authors: Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM.

Reference Intervals for Lymphocyte Subsets in Preterm and Term Neonates Without Immune Defects.

J Allergy Clin Immunol 2019 Jun 17. pii: S0091-6749(19)30765-1. doi: 10.1016/j.jaci.2019.05.038. [Epub ahead of print]

Specialties: Pediatrics, Rheumatology/Immunology/Allergy

Authors: Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM.

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Pediatrics. 2019 Jan 25: doi: 10.1542/peds.2018-2300. [Epub ahead of print]

Specialties: Infectious Disease, Oncology, Pediatrics

Authors: Puttaraksa K, Pirttinen H, Karvonen K, Nykky J, Naides SJ, Gilbert L.

Parvovirus B19V Non-structural Protein NS1 Induces dsDNA Autoantibodies and End Organ Damage in Non-autoimmune Mice.

J Infect Dis. 2018 Oct 22. [Epub ahead of print]

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Authors: Naides SJ.

The role of the laboratory in the expanding field of neuroimmunology: Autoantibodies to neural targets.

J Immunol Methods. 2018 Oct 6 [Epub ahead of print]

Specialties: Neurology

Authors: Regelmann MO, Kamboj MK, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.

J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331.

Specialties: Endocrinology, Diabetes & Metabolism, Neurology, Pediatrics

Authors: Adgent MA, Umbach DM, Zemel BS, Kelly A, Schall JI, Ford EG, James K, Darge K, Botelho JC, Vesper HW, Chandler DW, Nakamoto JM, Rogan WJ, Stallings VA.

A longitudinal study of estrogen-responsive tissues and hormone concentrations in infants fed soy formula.

J Clin Endocrinol Metab. 2018 Mar 1. doi: 10.1210/jc.2017-02249. [Epub ahead of print]

Specialties: Endocrinology, Diabetes & Metabolism, Pediatrics

Quest Diagnostics Authors: Nakamoto, JM
Authors: Blatt AJ, Kaufman HW.

Gaps in diabetes screening during pregnancy and postpartum.

Obstet Gynecol. 2011;117:61-68.

Specialties: Endocrinology, Diabetes & Metabolism, Hematology/Hemostasis/Thrombosis, OB/GYNs, Oncology, PCPs

Authors: Guy C, Haji-Sheikhi F, Rowland CM, Anderson B, Owen R, Lacbawan FL, Alagia DP

Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.

Mol Genet Genomic Med. 2019 Jan 31:e545. doi: 10.1002/mgg3.545. [Epub ahead of print]

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

Read the Key Summary (Download PDF)

View the FAQ (Download PDF)

Authors: Assi R, Mahfouz R, Owen R, Gunthorpe M, Chehab FF, Bazarbachi A.

PAX5, NOTCH3, CBFB, and ACD drive an activated RAS pathway and monosomy 7 to B-ALL and AML in donor cell leukemia.

Bone Marrow Transplant. 2018 Dec 10. doi: 10.1038/s41409-018-0419-7. [Epub ahead of print]

Specialties: Genetics, Oncology

Authors: Marlise R. Luskin, Marie N. Discenza, Sarah Rae Easter, Paola Dal Cin, Renius Owen, Bernard Ilagan, Meredith Masiello, Andrew A. Lane

Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening

Blood Adv. 2017;1(19): 1491–1494.

Specialties: Hematology/Hemostasis/Thrombosis, Oncology, Women's Health/OB/GYN

Authors: Luskin MR. Discenza MN, Easter SR, Dal Cin P, Owen R, Ilagan B, Masiello M, Lane AA

Maternal iAMP21 Acute Lymphoblastic Leukemia Detected on Prenatal Cell-Free DNA Genetic Screening

Blood Adv. 2017 Aug 22; 1(19):1491-1494.

Specialties: Women's Health/OB/GYN

Authors: Ilagan BJ, Maxwell MD, Fisher BM, Milanovich J, Owen R, Anderson B, Zhang K, Strom CM

Maternal Chromosome Xp Deletion Identified by Prenatal Cell-free DNA Screening.

Prenat Diagn. 2017. doi: 10.1002/pd.5103. [Epub ahead of print]

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

Read the Key Summary (Download PDF)

Authors: Strom CM, Anderson B, Tsao D1, Zhang K, Liu Y, Livingston K, Elzinga C2, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).

PLoS One. 2017;12:e0167130

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

Read the Key Summary (Download PDF)

Authors: Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Neuromuscul Disord. 2015;25:945-51.

Specialties: Neurology