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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Genetics in medicine, 2020-01, Vol.22 (1), p.85-94

2020

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Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Genetics in medicine, 2019-01, Vol.21 (1), p.173-180

2019

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When Innovation and Commercialization Collide: A Patient Advocate View in Neuroblastoma

Journal of clinical oncology, 2022-01, Vol.40 (2), p.120-126

2022

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Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries

PloS one, 2015-10, Vol.10 (10), p.e0140002

2015

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

Health policy (Amsterdam), 2015-07, Vol.119 (7), p.964-979

2015

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Impact of COVID-19 pandemic on patients with rare disease in Hong Kong

European journal of medical genetics, 2020-12, Vol.63 (12), p.104062-104062, Article 104062

2020

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

Genetics in medicine, 2017-05, Vol.19 (5), p.546-552

2017

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Estimating the clinical cost of drug development for orphan versus non-orphan drugs

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.12-12, Article 12

2019

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Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Genetics in medicine, 2019-11, Vol.21 (11), p.2586-2593

2019

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Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.64-64, Article 64

2017

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Fair Funding Decisions: Consistency of the Time Horizons Used in the Calculation of Quality-Adjusted Life Years for Therapies for Very Rare Diseases by the National Institute for Health and Care Excellence in England

International journal of environmental research and public health, 2024-05, Vol.21 (5), p.616

2024

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Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review

PharmacoEconomics, 2024-06, Vol.42 (6), p.619-631

2024

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Rare diseases and effective treatments: are we delivering?

The Lancet (British edition), 2015-02, Vol.385 (9970), p.750-752

2015

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Reforming the Orphan Drug Act for the 21st Century

The New England journal of medicine, 2019-07, Vol.381 (2), p.106-108

2019

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Budget impact analysis of high-priced orphan medicinal products intended for the treatment of rare diseases in China: evidence from a densely populated metropolis of Chengdu

BMC health services research, 2024-09, Vol.24 (1), p.1123-11, Article 1123

2024

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International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

EMBO molecular medicine, 2019-05, Vol.11 (5), p.1-n/a

2019

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Orphan drug development: an economically viable strategy for biopharma R&D

Drug discovery today, 2012-07, Vol.17 (13-14), p.660-664

2012

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Rare diseases, orphan drugs and their regulation: questions and misconceptions

Nature reviews. Drug discovery, 2010-12, Vol.9 (12), p.921-929

Tambuyzer, Erik

2010

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Quantifying the insurance value for rare diseases: Duchenne muscular dystrophy

The American journal of managed care, 2024-07, Vol.30 (7), p.e217-e222

2024

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Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

Scientific reports, 2021-12, Vol.11 (1), p.23837-23837, Article 23837

2021

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Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases

European journal of clinical nutrition, 2018-01, Vol.72 (1), p.87-92

2018

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Can the Consideration of Societal Costs Change the Recommendation of Economic Evaluations in the Field of Rare Diseases? An Empirical Analysis

Value in health, 2021-03, Vol.24 (3), p.431-442

2021

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Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation

PharmacoEconomics, 2016-03, Vol.34 (3), p.285-301

2016

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Preparing for the Future of Rare Diseases

Advances in experimental medicine and biology, 2017, Vol.1031, p.641-648

2017

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The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan

Orphanet journal of rare diseases, 2022-11, Vol.17 (1), p.408-408, Article 408

2022

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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

When Innovation and Commercialization Collide: A Patient Advocate View in Neuroblastoma

Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries

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

Impact of COVID-19 pandemic on patients with rare disease in Hong Kong

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

Estimating the clinical cost of drug development for orphan versus non-orphan drugs

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen

Fair Funding Decisions: Consistency of the Time Horizons Used in the Calculation of Quality-Adjusted Life Years for Therapies for Very Rare Diseases by the National Institute for Health and Care Excellence in England

Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review

Rare diseases and effective treatments: are we delivering?

Reforming the Orphan Drug Act for the 21st Century

Budget impact analysis of high-priced orphan medicinal products intended for the treatment of rare diseases in China: evidence from a densely populated metropolis of Chengdu

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Orphan drug development: an economically viable strategy for biopharma R&D

Rare diseases, orphan drugs and their regulation: questions and misconceptions

Quantifying the insurance value for rare diseases: Duchenne muscular dystrophy

Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases

Can the Consideration of Societal Costs Change the Recommendation of Economic Evaluations in the Field of Rare Diseases? An Empirical Analysis

Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation

Preparing for the Future of Rare Diseases

The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan

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