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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Sonya Watson et al. Neurol Genet 2024 10(3) e200133
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End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Dorsemans Anne-Claire et al. Neurol Clin Pract 2023 13(6) e200199
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What Is Huntington Disease?
R Marcus, JAMA, August 21, 2023
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Martin Paucar et al. J Neurol Sci 2023 451120707
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Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022
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A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier Florian et al. Journal of medical Internet research 2022 24(6) e32997
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In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysis.
Christensen Alicia A et al. Fertility and sterility 2022
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Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
JM Lee et al, AJHG, March 23, 2022
Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.
Staunton Ciara et al. Journal of community genetics 2021
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Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Vicente Esther et al. Orphanet journal of rare diseases 2021 Feb 16(1) 77
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Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne Dhamidhu et al. Journal of the neurological sciences 2020 Dec 420117260
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Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Pierron Lucie et al. European journal of human genetics : EJHG 2020 Dec
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Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Goldman Jill et al. Journal of genetic counseling 2020 Oct
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Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.
Bean Lora et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul
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How Have Advances in Genetic Technology Modified Movement Disorders Nosology?
Sturchio Andrea et al. European journal of neurology 2020 Apr
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Prevalence of Huntington Disease in Italy: a systematic review and meta-analysis.
Riccò Matteo et al. Acta bio-medica : Atenei Parmensis 2020 Apr 91(3-S) 119-127
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Quantification of Motor Function in Huntington Disease Patients Using Wearable Sensor Devices.
Gordon Mark Forrest et al. Digital biomarkers 3(3) 103-115
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Huntington disease: When does it begin?
Martin W R Wayne et al. Neurology 2019 93(10) 421-422
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Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center.
Ferreira Diogo et al. Porto biomedical journal 4(5) e48
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Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
Zhao Mingjue et al. Scientific reports 2019 Nov 9(1) 16481
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Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Eno Celeste C et al. Molecular genetics & genomic medicine 2019 Nov e1026
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Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study.
Demetriou C A et al. Clinical genetics 2018 93(3) 656-664
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A Deep Learning-Based Approach for Gait Analysis in Huntington Disease.
Zhang Shisheng et al. Studies in health technology and informatics 2019 Aug 264477-481
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Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.
Ramond Francis et al. Molecular genetics & genomic medicine 2019 Aug e881
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Association of CAG Repeats With Long-term Progression in Huntington Disease.
Langbehn Douglas R, et al. JAMA neurology 2019 8 0.
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The Prospective Huntington At-Risk Observational Study (PHAROS): The Emotional Well-Being, Safety and Feasibility of Long-Term Research Participation.
Kayson Elise et al. Journal of Huntington's disease 2019 Jul
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The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.
Anderson Karen E et al. Clinical genetics 2019 May
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Experimental Drug For Huntington's Disease Jams Malfunctioning Gene
R Harris, NPR, May 9, 2019
Recent advances in the therapeutic development for Huntington disease.
Mestre Tiago A et al. Parkinsonism & related disorders 2019 Feb 59125-130
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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