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Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study

PloS one, 2017-06, Vol.12 (6), p.e0178639-e0178639

2017

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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Contemporary clinical trials, 2010-09, Vol.31 (5), p.394-404

2010

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GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Human mutation, 2015-10, Vol.36 (10), p.974-978

2015

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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.631-643

2018

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ClinGen's GenomeConnect registry enables patient‐centered data sharing

Human mutation, 2018-11, Vol.39 (11), p.1668-1676

2018

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An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.48-48, Article 48

2019

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P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program

Genetics in Medicine Open, 2023, Vol.1 (1), p.100304, Article 100304

2023

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P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

Genetics in Medicine Open, 2024, Vol.2, p.100907, Article 100907

2024

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Significance of Patient Registries for Dermatological Disorders

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1749-1752

2012

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P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Genetics in Medicine Open, 2024, Vol.2, p.100909, Article 100909

2024

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Response to Horn et al

Journal of investigative dermatology, 2013-05, Vol.133 (5), p.1362-1362

2013

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LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107471, Article 107471

2023

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Exploring genetic diversity, clinical signs, and newborn screening results in long-chain fatty acid oxidation disorders: Insights from a gene panel sponsored program

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108248, Article 108248

2024

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Early development of a locus specific database for , the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107068, Article 107068

2023

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Early development of a locus specific database for GUSB, the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence

Molecular genetics and metabolism, 2023-02, Vol.138 (2)

2023

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Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108015, Article 108015

2024

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Results of an online survey on family burden of illness in severe mucopolysaccharidosis type II

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S42-S42

2019

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ConnectMPS: the global patient insights network for MPS, ML and related disorders

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S114-S114

2017

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eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program

Genetics in medicine, 2022-03, Vol.24 (3), p.S138-S138

2022

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Revealing the genetic complexity of long-chain fatty acid oxidation disorders: Insights from a dynamic locus-specific gene database

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108206, Article 108206

2024

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eP171 - Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program

Molecular genetics and metabolism, 2021-04, Vol.132, p.S112-S113

2021

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Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program

Molecular genetics and metabolism, 2021-04, Vol.132, p.S112-S113

2021

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An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100499-100499, Article 100499

2019

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Healthcare resource use in severe mucopolysaccharidosis type I post-transplant children via parent survey

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S41-S42

2019

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GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Human mutation, 2015-10, Vol.36 (10), p.974-978

2015

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Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

ClinGen's GenomeConnect registry enables patient‐centered data sharing

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States

P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program

P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

Significance of Patient Registries for Dermatological Disorders

P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Response to Horn et al

LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM

Exploring genetic diversity, clinical signs, and newborn screening results in long-chain fatty acid oxidation disorders: Insights from a gene panel sponsored program

Early development of a locus specific database for , the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence

Early development of a locus specific database for GUSB, the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence

Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs

Results of an online survey on family burden of illness in severe mucopolysaccharidosis type II

ConnectMPS: the global patient insights network for MPS, ML and related disorders

eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program

Revealing the genetic complexity of long-chain fatty acid oxidation disorders: Insights from a dynamic locus-specific gene database

eP171 - Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program

Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program

An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States

Healthcare resource use in severe mucopolysaccharidosis type I post-transplant children via parent survey

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

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