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These publications were authored or co-authored by Quest Diagnostics staff.
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Authors: Wang JC, Radcliff J, Coe SJ, Mahon LW.
Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.
Prenat Diagn. 2019 Feb;39(3):137-156.Specialties: Genetics, Women's Health/OB/GYN
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;10:33Specialties: Genetics, Neurology, Pediatrics
Authors: Wang JC, Mahon LW, Ross LP, Anguiano A, Owen R, Boyar FZ
Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
Mol Cytogenet. 2016;9:82Specialties: Genetics
Quest Diagnostics Authors: Anguiano, A, Deming, A, Elnaggar, M, Hafezi, K, Hinman, L, Mahon, L, Ross, L, Sahoo, T, Wang, J
Authors: Sanchez-Lara P, Bruno Y, Bartley JA, Liehr T, Jones M
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Eur J Hum Genet 2015;23:61-66Specialties: Genetics, Pathology, Laboratory Medicine
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;23:663-671Specialties: 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 10Specialties: 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: e01700-17Specialties: Infectious Disease
Quest Diagnostics Authors: Batterman, HJ, Matud, J, Prince, H, Seaton, B
Chikungunya virus RNA and antibody testing at a National Reference Laboratory since the emergence of Chikungunya virus in the Americas.
Clin Vaccine Immunol 2015;22:291-297Specialties: Infectious Disease, Pathology, Laboratory Medicine
Authors: McClure FL, Niles JK, Kaufman HW, Gudin J.
Drug Misuse and Hepatitis C Virus Infection Profiles for Three Generations of Patients Being Monitored for Prescription Drug Adherence.
J Addict Med. 2018 Oct 16. [Epub ahead of print]Specialties: Toxicology/Pain Management
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
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
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
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
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
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
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
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
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
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;7:836–842Specialties: 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;26:227-34Specialties: Oncology, Pediatrics
Quest Diagnostics Authors: Chen, Z, Kaufman, HW, McPhaul, MJ
Authors: Fonseca VA
Surge in newly identified diabetes among medicaid patients in 2014 within medicaid expansion States under the affordable care act.
Diabetes Care 2015;38:833-837Specialties: Endocrinology, Diabetes & Metabolism, Health Information Technology, Oncology
Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ, Reitz, R
Authors: Goldman, Mildred M. BS, CLS; Viec, Khanh V. BS;
The Measurement of 3-Epimer 25-Hydroxyvitamin D by Mass Spectrometry in Clinical Specimens Detects Inconsequential Levels in Adult Subjects
Journal of Investigative MedicineSpecialties: Endocrinology, Diabetes & Metabolism, Endocrinology, Diabetes & Metabolism, General Health and Wellness, Internal Medicine, Pathology, Laboratory Medicine, Pediatrics
Authors: Meng H and Xu W
Clinical Molecular Genetic Laboratory Practice, Where We Stand in 2018
J Mol Genet Med. 2018 Oct 8;12(4)Specialties: Clinical and Lab healthcare professionals, Genetics
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 8:23–33Specialties: Genetics, Geriatrics/Age Management, Neurology
Quest Diagnostics Authors: Fischer, M, Kosoy, O, Laven, J, Lindsey, N, Messenger, S, Prince, H, Staples, J
Chikungunya virus infections among travelers-United States, 2010-2013.
Am J Trop Med Hyg 2015;92:82-87Specialties: Infectious Disease, Internal Medicine
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;35:1712-1720Specialties: 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;35:1712-1720Specialties: 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;175:173-81Specialties: 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
Authors: Mora S, Caulfield MP, Wohlgemuth J, Chen Z, Superko HR, Rowland CM, Glynn RJ, Ridker PM, Krauss RM
Atherogenic Lipoprotein Subfractions Determined by Ion Mobility and First Cardiovascular Events After Random Allocation to High-Intensity Statin or Placebo: The Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin (JUPITER) Trial.
Circulation. 2015;132:2220-9Specialties: Cardiology, Endocrinology, Diabetes & Metabolism
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;4:53Specialties: 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
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: Karlon WJ, Naides SJ, Crosson JT, Ansari MQ
Variability in Testing for Antineutrophil Cytoplasmic Antibodies: A Survey of Participants in the College of American Pathologists Proficiency Testing Program.
Arch Pathol Lab Med. 2016;140:524-8Specialties: Pathology, Laboratory Medicine, Rheumatology/Immunology/Allergy
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
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]
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
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:e0167130Specialties: Genetics, Women's Health/OB/GYN
Authors: Strom CM, Maxwell MD, Owen R
Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
N Engl J Med. 2017; 376:188-189Specialties: Genetics, Women's Health/OB/GYN
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
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