Clinical Education Center

Donnai-Barrow Syndrome.

Authors: Longoni M, Kantarci S, Donnai D, Pober BR.
GeneReviews® [Internet] [updated 2018 Nov 21] Initial Posting: August 28, 2008

Specialties: Genetics, Neurology

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

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

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ
Adv Genomics Genet. 2018 Oct 25 vol 8:23–33

Specialties: Genetics, Geriatrics/Age Management, Neurology

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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