Publications by authors named "Wendy H Raskind"

73 Publications

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Neuromuscul Disord 2020 07 23;30(7):572-575. Epub 2020 May 23.

Department of Neurology, University of Washington, 1660 S. Columbian way S127, Seattle WA, United States; Department of Medicine, University of Washington, United States; Department of Psychiatry and Behavioral Sciences, United States; GRECC, VA Medical Center, United States.

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July 2020

Heterozygous missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.

Neurol Genet 2020 Apr 10;6(2):1-13. Epub 2020 Feb 10.

Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.

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April 2020

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.

Mov Disord Clin Pract 2020 Jan 14;7(1):70-77. Epub 2019 Dec 14.

Department of Medicine, Division of Medical Genetics University of Washington Seattle Washington USA.

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January 2020

ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Mov Disord Clin Pract 2019 Sep 19;6(7):512-520. Epub 2019 Aug 19.

Department of Neurology (J.S.), Kingston General Hospital, Canada; Department of Neurology (D.M.-G.), Hospital Universitario Virgen del Rocío, Seville, Spain; and UC Gardner Neuroscience Institute and Gardner Family Center for Parkinson's Disease and Movement Disorders (A.Z., A.J.E.), Department of Neurology University of Cincinnati Ohio USA.

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September 2019

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Transl Psychiatry 2019 01 15;9(1). Epub 2019 Jan 15.

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

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January 2019

Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults.

Neurology 2017 Sep 18;89(12):1251-1255. Epub 2017 Aug 18.

From the Geriatric Research, Education, and Clinical Center (G.L., W.H.R.) and Northwest Network (VISN-20) Mental Illness, Research, Education, and Clinical Center (G.L., C.L.M., D.M., S.P.M., E.C.P., M.A.R., E.R.P.), Veterans Affairs Puget Sound Health Care System; Departments of Psychiatry and Behavioral Sciences (G.L., E.C.P., M.C., M.A.R., E.R.P.) and Medicine (W.H.R.), University of Washington, Seattle; and Department of Neurology (A.M.F.), Washington University in St. Louis, MO.

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September 2017

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Mov Disord 2017 02 9;32(2):305-306. Epub 2016 Dec 9.

Geriatric Research, Education and Clinical Center Department of Veteran Affairs, Seattle, Washington, USA.

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February 2017

Biochemical and imaging surveillance in Li-Fraumeni syndrome.

Lancet Oncol 2016 11;17(11):e472

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

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November 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Am J Hum Genet 2016 06;98(6):1146-1158

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Care Center, Seattle, WA 98108, USA; Division of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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June 2016

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

PLoS One 2016 27;11(4):e0153864. Epub 2016 Apr 27.

Div. of Medical Genetics, Dpt. of Medicine, University of Washington, Seattle, Washington, United States of America.

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February 2017

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Mov Disord 2016 Jan 21;31(1):147-8. Epub 2015 Dec 21.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.

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January 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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December 2015

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Alzheimers Dement 2016 Jan 11;12(1):2-10. Epub 2015 Sep 11.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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January 2016

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

JAMA Neurol 2015 Aug;72(8):920-7

Department of Neurology, University of Washington, Seattle5Department of Medicine (Medical Genetics), University of Washington, Seattle9Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington.

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August 2015

Pancreatic intraductal papillary mucinous neoplasm in a patient with Lynch syndrome.

World J Gastroenterol 2015 Mar;21(9):2820-5

Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.

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March 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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March 2015

Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors.

Am J Med Genet B Neuropsychiatr Genet 2014 Jun 8;165B(4):345-56. Epub 2014 May 8.

Department of Biostatistics, University of Washington, Seattle, Washington.

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June 2014

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Am J Hum Genet 2013 Oct 19;93(4):631-40. Epub 2013 Sep 19.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

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October 2013