Publications by Medical Specialty - Genetics

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

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Authors: Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA
J Genet Couns. 2017 Oct doi: 10.1007/s10897-017-0158-8. [Epub ahead of print]

Specialties: Genetics

Revised Prevalence Estimate of Possible Hereditary Xerocytosis as Derived from a Large U.S. Laboratory Database.

Authors: Kaufman HW, Niles JK, Gallagher DR, Rivera A, Alper SL, Brugnara C, Snyder LM
Am J Hematol. 2017 Oct 3. doi: 10.1002/ajh.24923. [Epub ahead of print]

Specialties: Genetics

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

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ
Mol Cytogenet 2017;10:33

Specialties: Genetics, Neurology, Pediatrics

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

Authors: Ilagan BJ, Maxwell MD, Fisher BM, Milanovich J, Owen R, Anderson B, Zhang K, Strom CM
Prenat Diagn. 2017. doi: 10.1002/pd.5103. [Epub ahead of print]

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

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Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Authors: Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.
J Clin Oncol. 2017;35:2329-2337.

Specialties: Clinical and Lab healthcare professionals, Genetics, Nurse practitioners, Oncology, Pathology, PCPs, Women's Health/OB/GYN

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Authors: Reittinger AM1, Helm BM2, Boles DJ, Gadi IK, Schrier Vergano SA
Am J Med Genet A. 2017 Jun 27. doi: 10.1002/ajmg.a.38344. [Epub ahead of print]

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