J
Jill Goldman
Researcher at Columbia University
Publications - 81
Citations - 2565
Jill Goldman is an academic researcher from Columbia University. The author has contributed to research in topics: Frontotemporal dementia & Genetic counseling. The author has an hindex of 22, co-authored 68 publications receiving 2051 citations. Previous affiliations of Jill Goldman include University of California, San Francisco & Columbia University Medical Center.
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Journal ArticleDOI
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
Jill Goldman,Susan E. Hahn,Jennifer Williamson Catania,Susan Larusse-Eckert,Melissa Barber Butson,Malia Rumbaugh,Michelle N. Strecker,J. Scott Roberts,Wylie Burke,Richard Mayeux,Thomas D. Bird +10 more
TL;DR: This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.
Journal ArticleDOI
Comparison of family histories in FTLD subtypes and related tauopathies
Jill Goldman,Jennifer M. Farmer,Elisabeth M. Wood,Julene K. Johnson,Adam L. Boxer,John Neuhaus,Catherine Lomen-Hoerth,Kirk C. Wilhelmsen,Virginia M. Y. Lee,Murray Grossman,Bruce L. Miller +10 more
TL;DR: Pedigrees from 269 patients with frontotemporal lobar degeneration (FTLD), including FTD, FTD with ALS, progressive nonfluent aphasia, semantic dementia, corticobasal degeneration, and progressive supranuclear palsy were analyzed to determine the degree of heritability of these disorders.
Journal ArticleDOI
Genetic aspects of Alzheimer disease.
TL;DR: This review discusses current advances in AD genetics, the implications of the known AD genes, presenilin 1, presanilin 2, amyloid precursor protein, and apolipoprotein E, and other possible genes on the clinical diagnosis, treatment, and genetic counseling of patients and families with early- and late-onset AD.
Journal ArticleDOI
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Adam L. Boxer,Ian R. A. Mackenzie,Bradley F. Boeve,Matt Baker,William W. Seeley,Richard Crook,Howard Feldman,Ging-Yuek Robin Hsiung,Nicola J. Rutherford,Victor Laluz,Jennifer L. Whitwell,Dean Foti,Eric McDade,Jennifer R. Molano,Anna Karydas,Aleksandra Wojtas,Aleksandra Wojtas,Jill Goldman,Jacob B. Mirsky,Pheth Sengdy,Stephen J. DeArmond,Bruce L. Miller,Rosa Rademakers +22 more
TL;DR: A distinct pattern of brain atrophy and neuropathological findings may help to identify other families with FTD-ALS caused by this genetic abnormality, and family VSM-20 significantly reduces the region linked to FTd-ALS on chromosome 9p.
Journal ArticleDOI
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Sandy Chan Hsu,Renee L. Sears,R. R. Lemos,Beatriz Quintáns,Alden Y. Huang,Elizabeth Spiteri,Elizabeth Spiteri,Lisette Nevarez,Catherine Mamah,Catherine Mamah,Mayana Zatz,Kerrie D. Pierce,Janice M. Fullerton,Janice M. Fullerton,John C. Adair,Jon E. Berner,Matthew Bower,Henry Brodaty,Olga Carmona,Valerija Dobricic,Brent L. Fogel,Daniel García-Estevez,Jill Goldman,John L. Goudreau,Suellen Hopfer,Suellen Hopfer,Milena Jankovic,Serge Jaumà,Joanna C. Jen,Suppachok Kirdlarp,Joerg Klepper,Vladimir S. Kostic,Anthony E. Lang,Agnès Linglart,Melissa K. Maisenbacher,Bala V. Manyam,Pietro Mazzoni,Z. Miedzybrodzka,Witoon Mitarnun,Philip B. Mitchell,Jennifer Mueller,Ivana Novakovic,Martin Paucar,Henry L. Paulson,Sheila A Simpson,Per Svenningsson,Paul J. Tuite,Jerrold L. Vitek,Suppachok Wetchaphanphesat,Charles A. Williams,Michele Yang,Michele Yang,Peter R. Schofield,Peter R. Schofield,João Ricardo Mendes de Oliveira,María Jesús Sobrido,Daniel H. Geschwind,Giovanni Coppola +57 more
TL;DR: It is demonstrated that mutations in SLC20A2 are a major cause of familial IBGC, and non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.