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

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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

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Authors: Wood LD, Noë M, Hackeng W, Brosens LA, Bhaijee F, Debeljak M, Yu J, Suenaga M, Singhi AD, Zaheer A, Boyce A, Robinson C, Eshleman JR, Goggins MG, Hruban RH, Collins MT, Lennon AM, Montgomery EA.
Virchows Arch. 2017;470:391-400

Specialties: Gastroenterology, Genetics, Oncology, Pathology

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

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.
PLoS One. 2017;12:e0167130

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

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Armc5 deletion causes developmental defects and compromises T-cell immune responses

Authors: Hu Y, Lao L, Mao J, Jin W, Luo H, Charpentier T, Qi S, Peng J, Hu B, Marcinkiewicz MM, Lamarre A, Wu J.
Nat Commun. 2017 Feb 7;8:13834

Specialties: Genetics