Publications by Medical Specialty - Genetics

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

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

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

Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

Authors: Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL.
Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716

Specialties: Genetics, Hematology/Hemostasis/Thrombosis

R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Authors: Astle JM, Rose MG, Racke FK, Tormey CA, Siddon AJ.
Lab Med. 2017 doi: 10.1093/labmed/lmx026. [Epub ahead of print]

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology