4.5 Article

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Angela A. Navarrete-Opazo et al.

Summary: The study used 2016 HCUP databases to analyze health-care utilization, finding that rare diseases have higher costs and utilization rates compared to common conditions in the healthcare system.

GENETICS IN MEDICINE (2021)

Article Biochemistry & Molecular Biology

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stephanie Nguengang Wakap et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Editorial Material Biotechnology & Applied Microbiology

How many rare diseases are there?

Melissa Haendel et al.

NATURE REVIEWS DRUG DISCOVERY (2020)

Article Medicine, General & Internal

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

Gregory Costain et al.

JAMA NETWORK OPEN (2020)

Review Genetics & Heredity

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Emer Gunne et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Article Mathematical & Computational Biology

An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD)

Qian Zhu et al.

JOURNAL OF BIOMEDICAL SEMANTICS (2020)

Review Health Care Sciences & Services

The case for open science: rare diseases

Yaffa R. Rubinstein et al.

JAMIA OPEN (2020)

Editorial Material Genetics & Heredity

Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

Scott D. Grosse et al.

GENETICS IN MEDICINE (2019)

Editorial Material Biochemistry & Molecular Biology

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Kym M. Boycott et al.

Article Health Care Sciences & Services

A new clinical complexity model for the Australian Refined Diagnosis Related Groups

Vera Dimitropoulos et al.

HEALTH POLICY (2019)

Article Genetics & Heredity

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Chloe M. Reuter et al.

JOURNAL OF GENETIC COUNSELING (2019)

Article Clinical Neurology

Estimating the cost of status epilepticus admissions in the United States of America using ICD-10 codes

Ivan Sanchez Fernandez et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)

Article Health Care Sciences & Services

Health Care Expenditure Burden of Cancer Care in the United States

Joohyun Park et al.

INQUIRY-THE JOURNAL OF HEALTH CARE ORGANIZATION PROVISION AND FINANCING (2019)

Article Health Care Sciences & Services

Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis-Related Hospitalizations

Lisa B. Feng et al.

HEALTH AFFAIRS (2018)

Article Genetics & Heredity

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Lauge Farnaes et al.

NPJ GENOMIC MEDICINE (2018)

Article Genetics & Heredity

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

Taila Hartley et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Review Genetics & Heredity

Impact of biobanks on research outcomes in rare diseases: a systematic review

Monique Garcia et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

Article Genetics & Heredity

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

Caroline E. Walker et al.

GENETICS IN MEDICINE (2017)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

R. S. Finkel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Review Genetics & Heredity

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

S. Ryder et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Genetics & Heredity

Survey of healthcare experiences of Australian adults living with rare diseases

Caron Molster et al.

ORPHANET JOURNAL OF RARE DISEASES (2016)

Review Health Care Sciences & Services

Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

Aris Angelis et al.

HEALTH POLICY (2015)

Article Endocrinology & Metabolism

The incidence of urea cycle disorders

Marshall L. Summar et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Multidisciplinary Sciences

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Alessandra Biffi et al.

SCIENCE (2013)