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  1. Book: Thompson & Thompson genetics in medicine

    Nussbaum, Robert L. / McInnes, Roderick R. / Willard, Huntington F. / Thompson, James S. / Thompson, Margaret W.

    (Expert consult)

    2016  

    Title variant Thompson and Thompson genetics in medicine ; Genetics in medicine
    Author's details Robert L. Nussbaum ; Roderick R. McInnes ; Huntington F. Willard
    Series title Expert consult
    Keywords Genetics, Medical
    Language English
    Size XI, 546 S. : Ill., graph. Darst.
    Edition 8. ed.
    Publisher Elsevier
    Publishing place Philadelphia
    Publishing country United States
    Document type Book
    Accompanying material Zugang zur Internetausgabe über Code
    HBZ-ID HT018712962
    ISBN 9781437706963 ; 1437706967
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2015 A 2687 available for loan (reading room) Lesesaal EG
    Zugang zur Internetausgabe über Code aus lizenzrechtlichen Gründen nicht verfügbar

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  2. Article ; Online: Letter to the Editor.

    Nussbaum, Robert L

    Journal of Parkinson's disease

    2019  Volume 9, Issue 2, Page(s) 445

    MeSH term(s) Humans ; Parkinson Disease ; alpha-Synuclein
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2019-10-14
    Publishing country Netherlands
    Document type Journal Article ; Comment
    ZDB-ID 2620609-2
    ISSN 1877-718X ; 1877-7171
    ISSN (online) 1877-718X
    ISSN 1877-7171
    DOI 10.3233/JPD-190001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetics of Synucleinopathies.

    Nussbaum, Robert L

    Cold Spring Harbor perspectives in medicine

    2018  Volume 8, Issue 6

    Abstract: Parkinson's disease (PD), diffuse Lewy body disease (DLBD), and multiple system atrophy (MSA) constitute the three major neurodegenerative disorders referred to as synucleinopathies because both genetic and pathological results implicate the α-synuclein ... ...

    Abstract Parkinson's disease (PD), diffuse Lewy body disease (DLBD), and multiple system atrophy (MSA) constitute the three major neurodegenerative disorders referred to as synucleinopathies because both genetic and pathological results implicate the α-synuclein protein in their pathogenesis. PD and DLBD are recognized as closely related diseases with substantial clinical and pathological overlap. MSA, on the other hand, has a distinctive clinical presentation and neuropathological profile. In this review, we will summarize the evidence linking α-synuclein to these three disorders. Hundreds of patients with point or copy number mutations in the gene encoding α-synuclein,
    MeSH term(s) Gene Expression ; Genome-Wide Association Study ; Humans ; Lewy Body Disease/genetics ; Multiple System Atrophy/genetics ; Mutation ; Parkinson Disease/genetics ; Phenotype ; alpha-Synuclein/genetics
    Chemical Substances SNCA protein, human ; alpha-Synuclein
    Language English
    Publishing date 2018-06-01
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2157-1422
    ISSN (online) 2157-1422
    DOI 10.1101/cshperspect.a024109
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  4. Article ; Online: The Identification of Alpha-Synuclein as the First Parkinson Disease Gene.

    Nussbaum, Robert L

    Journal of Parkinson's disease

    2017  Volume 7, Issue s1, Page(s) S43–S49

    Abstract: In this Commentary, I describe the events that led from an NINDS-sponsored Workshop on Parkinson Disease Research in 1995, where I was asked to speak about the genetics of Parkinson disease, to the identification a mere two years later of a mutation in ... ...

    Abstract In this Commentary, I describe the events that led from an NINDS-sponsored Workshop on Parkinson Disease Research in 1995, where I was asked to speak about the genetics of Parkinson disease, to the identification a mere two years later of a mutation in alpha-synuclein as the cause of autosomal dominant Parkinson disease in the Contursi kindred. I review the steps we took to first map and then find the mutation in the alpha-synuclein locus and describe the obstacles and the role of serendipity in facilitating the work. Although alpha-synuclein mutations are a rare cause of hereditary PD, the importance of this finding goes far beyond the rare families with hereditary disease because it pinpointed alpha-synuclein as a key contributor to the far more common sporadic form of Parkinson disease. This work confirms William Harvey's observation from 350 years ago that studying rarer forms of a disease is an excellent way to understand the more common forms of that disease. The identification of synuclein's role in hereditary Parkinson disease has opened new avenues of research into the pathogenesis and potential treatments of the common form of Parkinson disease that affects many millions of Americans and tens of millions of human beings worldwide.
    MeSH term(s) Biomedical Research/history ; History, 20th Century ; History, 21st Century ; Humans ; Parkinson Disease/genetics ; alpha-Synuclein/genetics
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2017-01-03
    Publishing country Netherlands
    Document type Historical Article ; Journal Article ; Personal Narrative
    ZDB-ID 2620609-2
    ISSN 1877-718X ; 1877-7171
    ISSN (online) 1877-718X
    ISSN 1877-7171
    DOI 10.3233/JPD-179003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Challenges in providing residual risks in carrier testing.

    Nussbaum, Robert Luke / Slotnick, Robert Nathan / Risch, Neil J

    Prenatal diagnosis

    2021  Volume 41, Issue 9, Page(s) 1049–1056

    Abstract: The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier screening for over 2 decades. Residual risks are calculated by subtracting the frequency of ... ...

    Abstract The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier screening for over 2 decades. Residual risks are calculated by subtracting the frequency of carriers of pathogenic variants detected by the test from the carrier frequency in a population, estimated from the incidence of the disease. Estimates of the incidence (and therefore carrier frequency) of many recessive disorders differ among different population groups and are inaccurate or unavailable for many genes on large carrier screening panels for most of the world's populations. The pathogenic variants detected by the test and their frequencies also vary across groups and over time as variants are newly discovered or reclassified, which requires today's residual carrier risks to be continually updated. Even when a residual carrier risk is derived using accurate data obtained in a particular group, it may not apply to many individuals in that group because of misattributed ancestry or unsuspected admixture. Missing or inaccurate data, the challenge of determining meaningful ancestry-specific risks and applying them appropriately, and a lack of evidence they impact management, suggest that patients be counseled that although carrier screening may miss a small fraction of carriers, residual risks with contemporary carrier screening are well below the risk posed by invasive prenatal diagnosis, even if one member of the couple is a carrier, and that efforts to provide precise residual carrier risks are unnecessary.
    MeSH term(s) Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Genetic Carrier Screening/methods ; Genetic Carrier Screening/trends ; Humans ; Risk Assessment/methods ; Risk Assessment/standards
    Language English
    Publishing date 2021-06-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5975
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Recurrent Renal Cysts in a Transplanted Kidney.

    Park, Meyeon / Nussbaum, Robert L

    Annals of internal medicine

    2018  Volume 169, Issue 9, Page(s) 657–658

    MeSH term(s) Aged ; Carcinoma, Renal Cell/surgery ; Diagnostic Errors ; Female ; Humans ; Kidney Diseases, Cystic/diagnostic imaging ; Kidney Diseases, Cystic/genetics ; Kidney Neoplasms/surgery ; Kidney Transplantation ; Mutation ; Nephrectomy ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Proto-Oncogene Proteins/genetics ; Recurrence ; Tumor Suppressor Proteins/genetics
    Chemical Substances FLCN protein, human ; Proto-Oncogene Proteins ; Tumor Suppressor Proteins
    Language English
    Publishing date 2018-07-03
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 336-0
    ISSN 1539-3704 ; 0003-4819
    ISSN (online) 1539-3704
    ISSN 0003-4819
    DOI 10.7326/L18-0177
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.

    Aradhya, Swaroop / Nussbaum, Robert L

    Molecular genetics & genomic medicine

    2018  

    Abstract: A modern genomics ecosystem has emerged. This commentary describes recent trends in clinical genomics that enable its successful integration in mainstream medicine. The rapid expansion of clinical genomics will have a positive impact on the healthcare of ...

    Abstract A modern genomics ecosystem has emerged. This commentary describes recent trends in clinical genomics that enable its successful integration in mainstream medicine. The rapid expansion of clinical genomics will have a positive impact on the healthcare of individuals worldwide.
    Language English
    Publishing date 2018-05-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.415
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genome-wide association studies, Alzheimer disease, and understudied populations.

    Nussbaum, Robert L

    JAMA

    2013  Volume 309, Issue 14, Page(s) 1527–1528

    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; African Americans/genetics ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Genome-Wide Association Study ; Humans
    Chemical Substances ABCA7 protein, human ; Apolipoprotein E4
    Language English
    Publishing date 2013-04-10
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 2958-0
    ISSN 1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
    ISSN (online) 1538-3598
    ISSN 0254-9077 ; 0002-9955 ; 0098-7484
    DOI 10.1001/jama.2013.3507
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.

    Nazareth, Shivani / Hayward, Laura / Simmons, Emilie / Snir, Moran / Hatchell, Kathryn E / Rojahn, Susan / Slotnick, Robert Nathan / Nussbaum, Robert L

    Obstetrics and gynecology

    2023  Volume 138, Issue 6, Page(s) 860–870

    Abstract: Objective: To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal and family cancer history in routine women's health care settings.: Methods: We conducted a multicenter, ... ...

    Abstract Objective: To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal and family cancer history in routine women's health care settings.
    Methods: We conducted a multicenter, retrospective observational study of patients who used a web-based chatbot before routine care appointments to assess their risk for hereditary breast and ovarian cancer, Lynch syndrome, and adenomatous polyposis syndromes. Outcome measures included uptake and completion of the risk-assessment and educational section of the chatbot interaction and identification of hereditary cancer risk as evaluated against National Comprehensive Cancer Network criteria.
    Results: Of the 95,166 patients invited, 61,070 (64.2%) engaged with the clinical chatbot. The vast majority completed the cancer risk assessment (89.4%), and most completed the genetic testing education section (71.4%), indicating high acceptability among those who opted to engage. The mean duration of use was 15.4 minutes (SD 2 hours, 56.2 minutes) when gaps of inactivity longer than 5 minutes were excluded. A personal history of cancer was reported by 19.1% (10,849/56,656) and a family history of cancer was reported by 66.7% (36,469/54,652) of patients who provided the relevant information. One in four patients (14,850/54,547) screened with the chatbot before routine care appointments met National Comprehensive Cancer Network criteria for genetic testing. Among those who were tested, 5.6% (73/1,313) had a disease-causing pathogenic variant.
    Conclusion: A chatbot digital health tool can help identify patients at high risk for hereditary cancer syndromes before routine care appointments. This scalable intervention can effectively provide cancer risk assessment, engage patients with educational information, and facilitate a path toward preventive genetic testing.
    Funding source: Implementation of the chatbot in clinics was funded by industry support from commercial genetic testing laboratories Ambry, Invitae, and Progenity.
    MeSH term(s) Adolescent ; Adult ; Appointments and Schedules ; Breast Neoplasms/genetics ; Breast Neoplasms/prevention & control ; Digital Technology ; Female ; Genetic Predisposition to Disease/prevention & control ; Genetic Testing ; Humans ; Medical History Taking/methods ; Middle Aged ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/prevention & control ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/prevention & control ; Patient Acceptance of Health Care/psychology ; Patient Acceptance of Health Care/statistics & numerical data ; Retrospective Studies ; Risk Assessment/methods ; Young Adult
    Language English
    Publishing date 2023-07-06
    Publishing country United States
    Document type Journal Article ; Observational Study
    ZDB-ID 207330-4
    ISSN 1873-233X ; 0029-7844
    ISSN (online) 1873-233X
    ISSN 0029-7844
    DOI 10.1097/AOG.0000000000004596
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Applications of artificial intelligence in clinical laboratory genomics.

    Aradhya, Swaroop / Facio, Flavia M / Metz, Hillery / Manders, Toby / Colavin, Alexandre / Kobayashi, Yuya / Nykamp, Keith / Johnson, Britt / Nussbaum, Robert L

    American journal of medical genetics. Part C, Seminars in medical genetics

    2023  Volume 193, Issue 3, Page(s) e32057

    Abstract: The transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of "big data" in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately ... ...

    Abstract The transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of "big data" in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately evaluating complex molecular data to facilitate timely diagnosis and management of genomic disorders will require supportive artificial intelligence methods. These are already being introduced into clinical laboratory genomics to identify variants in DNA sequencing data, predict the effects of DNA variants on protein structure and function to inform clinical interpretation of pathogenicity, link phenotype ontologies to genetic variants identified through exome or genome sequencing to help clinicians reach diagnostic answers faster, correlate genomic data with tumor staging and treatment approaches, utilize natural language processing to identify critical published medical literature during analysis of genomic data, and use interactive chatbots to identify individuals who qualify for genetic testing or to provide pre-test and post-test education. With careful and ethical development and validation of artificial intelligence for clinical laboratory genomics, these advances are expected to significantly enhance the abilities of geneticists to translate complex data into clearly synthesized information for clinicians to use in managing the care of their patients at scale.
    MeSH term(s) Humans ; Artificial Intelligence ; Laboratories, Clinical ; Genomics/methods ; Genetic Testing ; Phenotype
    Language English
    Publishing date 2023-07-28
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32057
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