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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 02, 2024
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
M Cecilia Poli et al. Eur J Hum Genet 2024
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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Filippo Pinto E Vairo et al. J Transl Med 2023 21(1) 410
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Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Miller Ilana M et al. Orphanet journal of rare diseases 2023 18(1) 6
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A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.
Spillmann Rebecca C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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Genomic technologies to improve variation identification in undiagnosed diseases.
Shieh Joseph T C et al. Pediatrics and neonatology 2022
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Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
Young Jennifer L et al. Frontiers in genetics 2022 13949422
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Diagnosis and Discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano Carolina et al. Journal of inherited metabolic disease 2022
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha Shruti et al. Genome medicine 2022 14(1) 23
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Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Halley Meghan C et al. American journal of medical genetics. Part A 2022
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Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney Thomas et al. Journal of medical genetics 2021
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Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Kohler Jennefer N et al. Journal of genetic counseling 2021
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Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
LeBlanc Kimberly et al. Orphanet journal of rare diseases 2021 16(1) 210
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"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.
Halley Meghan C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 23(5) 837-844
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Sun Yan et al. BMC medical genomics 2021 14(1) 102
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Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
H Amiri et al, JAMA Network Open, February 25, 2021
The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project.
Hamakawa Nao et al. Research involvement and engagement 2021 Feb 7(1) 9
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Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
Altamimi Eyad et al. The application of clinical genetics 2020 13221-231
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Impact of integrated translational research on clinical exome sequencing.
Klee Eric W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch Kelly et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock David R et al. The Journal of clinical investigation 2020 Oct
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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan Natalie B et al. Molecular genetics & genomic medicine 2020 Sep e1508
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope Heidi et al. Molecular genetics & genomic medicine 2020 Jul e1397
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The undiagnosed diseases program: Approach to diagnosis.
Macnamara Ellen F et al. Translational science of rare diseases 2020 Apr 4(3-4) 179-188
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Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick Kendall J et al. American journal of medical genetics. Part A 2020 Mar
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New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee Hane, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 10 0.
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Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter Chloe M et al. Journal of genetic counseling 2019 Sep
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When You Don?t Know, You Feel Alone in the World? The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019
One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019
Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng Linda N et al. Postgraduate medical journal 2019 Aug
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 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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