Clinical Education Center

Phenotypic and heteroplasmy level variability in m.3243 mitochondrial disease

Authors: Sanchez Alcudia R, Miko Valori M, Kytölä V, Koskinen L, Aledo-Serrano A, Salmenperä P, Gentile M, Tallila J, Koskenvuo J, Isokallio M
Event: SENEP 2021: Sociedad Espanola De Neurologia Pediatrica. Virtual [in-person conference canceled], May 10-15, 2021

Specialties: Genetics, Neurology

Customization of the ACMG/AMP framework for Rett and Angelman-like disorders presents unique challenges

Authors: McKnight D, Bean L, Karbassi I, Beattie k, Bienvenu T, Bonin H, Cheng H, Chrisodoulou J, Fang P, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Murphy K, Neul J, Percy A, Ramsden S, Zoghbi H, Das S
Event: CGC 2021: Curating the Clinical Genome. Virtual [in-person conference canceled], May 12-14, 2021

Specialties: Genetics, Neurology

Comparison of validated neurological outcome instruments to assess myasthenia gravis in outpatients receiving long-term therapeutic plasma exchange: a multicenter quality assessment project

Authors: Monis G, Fernando L, Wong E, Sanford K, Gokhale A, Winters JL, Raval JS, Ipe TS
Event: ASFA 2021: American Society for Apheresis. Virtual [in-person conference canceled], May 12-15, 2021

Specialties: Hematology/Hemostasis/Thrombosis, Neurology

HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory

Quest Diagnostics Authors: Batish, SD, Radcliff , J
Authors: Batish SD, Meservey M, Haji-Sheikhi F, Nedzweckas EM, Wang Z, Datta V, Mullen TE, Radcliff J
Event: AAN 2021: American Academy of Neurology Annual meeting 2021. Virtual [in-person conference canceled], April 17 - 22, 2021

Specialties: Neurology

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Diagnostic Yield and Clinical Utility of Genetic Testing in Children with Seizure Onset After 2 Years of Age: An Update

Authors: Liaquat K, Gall K, Izzo E, Singh A, Alakurtti K, Seppala EH, Koskinen L, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions

Authors: Gall K, Tuupanen S, Sarantaus L, Gandia M, Duzkale H, Saarinen I, Sistonen J, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb

Authors: Muskett J, Nimrichter S, Zori R, Wang Z
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Authors: Powis Z, Hayes H, Hamm JA, Putnam AM, Basaran R
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Quest Diagnostics Authors: Lacbawan, F, Rowland, C, Tanpaiboon, P
Authors: Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

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

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

Specialties: Genetics, Neurology