Clinical Education Center

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.

Authors: Regelmann MO, Kamboj MK, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331.

Specialties: Endocrinology, Diabetes & Metabolism, Neurology, Pediatrics

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Authors: Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.
Hum Mutat. 2018 Nov;39(11):1476-1484.

Specialties: Genetics, Neurology

The role of the laboratory in the expanding field of neuroimmunology: Autoantibodies to neural targets.

Authors: Naides SJ.
J Immunol Methods. 2018 Oct 6 [Epub ahead of print]

Specialties: Neurology

The Brain Health Assessment for Detecting and Diagnosing Neurocognitive Disorders

Authors: Possin KL, Moskowitz T, Erlhoff SJ, Rogers KM, Johnson ET, Steele NZR, Higgins JJ, Stiver J, Alioto AG, Farias ST, Miller BL, Rankin KP
J Am Geriatr Soc 2018;66(1):150-156.

Specialties: Geriatrics/Age Management, Neurology

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Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability

Authors: Li Y, Anderson LA, Ginns EI, Devlin JJ
Mol Diagn Ther. 2018;22(1):129-138.

Specialties: Genetics, Neurology

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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

Blood lead levels and neurodevelopmental function in perinatally HIV-exposed, uninfected children in a US-based longitudinal cohort study.

Authors: Tassiopoulos K, Huo Y, Braun J, Williams PL, Smith R, Aschengrau A, Nichols S, Hazra R, Meyer WA, Knapp K, Deygoo NS, Seage Iii GR.
AIDS Res Hum Retroviruses. 2017 Mar 21. doi: 10.1089/AID.2016.0265. [Epub ahead of print]

Specialties: Infectious Disease, Neurology, Pediatrics, Toxicology/Pain Management

Apheresis Medicine education in the United States of America: State of the discipline.

Authors: Pagano MB, Wehrli G, Cloutier D, Galvin Karr E, Lopez-Plaza I, Schwartz J, Andrzejewski C, Winters JL, Wong EC, Wu Y, Zantek ND.
Transfus Apher Sci. 2017;56:1-5.

Specialties: Dermatology, Hematology/Hemostasis/Thrombosis, Internal Medicine, Nephrology, Neurology, Oncology, Pathology, Pediatrics, Rheumatology/Immunology/Allergy

Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.

Authors: Wang JC, Boyar FZ
Mol Cytogenet. 2016;9:64.

Specialties: Genetics, Neurology, Pathology, Laboratory Medicine, Pediatrics

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Authors: Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J
Neuromuscul Disord. 2015;25:945-51.

Specialties: Neurology