Conference Presentations by Medical Specialty - Neurology
Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project
Quest Diagnostics Authors: Muralidharan, K, Prior, TW
Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: AMP2020: 2020 Association for Molecular Pathology Annual Meeting & Expo. Virtual [in-person conference canceled], November 19 - 21, 2020
Enhancement of spinal muscular atrophy carrier screening with unique variants: to include or not to include?
Authors: Cheng LL, Alagia DP, Batish SD, Blazejewski LM, Castonguay CP, Guy C, Hennigan A, Mullen TE, Owen R, Robichaud N, Lacbawan FL
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project
Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020
Frequencies and patterns of deleterious variants in the largest cohort of patients referred for diagnostic MECP2 genotyping
Quest Diagnostics Authors: Buller-Burckle, A, Daniel, S, Lacbawan, F, Owen, R
Authors: Wan M, Buller-Burckle A, Quan F, Owen R, Ilagan BJ, Ghaffari G, Zhang Q, Oddoux C, Cai G, Vo T,Ito M, Wang G, Tsao D, Nery CR, Rion JR, Chen R, Zhang K, Daniel S, Lacbawan FL
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020
The Dual Laboratory Faces of Porphyria Cutanea Tarda
Quest Diagnostics Authors: Guerrero, RB, Lacbawan, F, Tanpaiboon, P
Authors: Salazar D, Sharma R, Guerrero RB, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Tanpaiboon P
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020
Diagnosis of porphyrias by fractionated urine or plasma porphyrins: Experience at Biochemical Genetics Laboratory, Quest Diagnostics
Quest Diagnostics Authors: Lacbawan, F
Authors: Sharma R, Tanpaiboon P, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Salazar D
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020
Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1045 specimens tested at a clinical reference laboratory
Quest Diagnostics Authors: Batish, SD, Datta, V, Katzman, E, Radcliff , J, Sansoucy, BG
Authors: Batish SD, Datta V, Radcliff J, Katzman EM, Sansoucy B
Event: AAN 2020: American Academy of Neurology Annual meeting 2020 . Cancelled but abstracts are available online, April 25 - May 1, 2020
Specialties: Neurology
Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory
Quest Diagnostics Authors: Batish, SD, Datta, V, Lebron, F, Meservey, MA, Radcliff , J, Wang, Z
Authors: Batish SD, Wang Z, Lebron F, Meservey MA, Radcliff J, Datta V
Event: AAN 2020: American Academy of Neurology Annual meeting 2020 . Cancelled but abstracts are available online, April 25 - May 1, 2020
Specialties: Genetics, Neurology
Disclaimer: One or more of the authors of this publication were employed at the time by Athena Diagnostics, a subsidiary of Quest Diagnostics.
Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory
Quest Diagnostics Authors: Alagia III, DP, Anderson, B, Guy, C, Lacbawan, F, Owen, R
Authors: Kahl K, Guy C, Karamata N, Owen R, Anderson B, Zhang K, Lacbawan FL, Alagia DP
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020
Specialties: Genetics, Neurology, Women's Health/OB/GYN
Frequency of Incidental Maternal Mosaic and Variant Turner Syndrome Detected by NIPT in a Pregnant Cohort
Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Boyar, F, Guy, C, Zhang, K
Authors: Blazejewski LM, Guy C, Owen R, Anderson B, Zhang K, Boyar FZ, Alagia DP
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020
Specialties: Genetics, Neurology, Women's Health/OB/GYN
