R. Thompson

发表

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

P. Robinson, I. Gut, K. Zatloukal, 2014, Journal of General Internal Medicine.

Limb-girdle muscular dystrophies — international collaborations for translational research

Rachel Thompson, V. Straub, R. Thompson, 2016, Nature Reviews Neurology.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Critical points for an accurate human genome analysis

Jeroen F. J. Laros, S. van Vooren, A. Cambon-Thomsen, 2017, Human mutation.

An ontological foundation for ocular phenotypes and rare eye diseases

Rachel Thompson, Peter N Robinson, Annie Olry, 2019, Orphanet Journal of Rare Diseases.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

R. Orrell, A. Atalaia, Hanns Lochmüller, 2017, Journal of Neurology.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

D. Cirillo, H. Lochmüller, Rachel Thompson, 2023, bioRxiv.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Rachel Thompson, Hanns Lochmüller, Holm Graessner, 2018, European Journal of Human Genetics.

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

H. Lochmüller, Rachel Thompson, A. Robertson, 2017, Advances in experimental medicine and biology.

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Thomas Sejersen, Rachel Thompson, Clemens Bloetzer, 2013, Journal of Neurology.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Julius O. B. Jacobsen, Orion J. Buske, D. Smedley, 2022, Human mutation.

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Bertrand Fontaine, Carles Hernandez-Ferrer, Katja Lohmann, 2020, Orphanet Journal of Rare Diseases.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

H. Lochmüller, R. Horvath, Rachel Thompson, 2020, The Lancet Neurology.

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Paolo Missier, Rachel Thompson, Hanns Lochmüller, 2019, Emerging topics in life sciences.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries

K. Bushby, Hanns Lochmüller, Rachel Thompson, 2017, Journal of Neurology.

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Rachel Thompson, Hanns Lochmüller, Bruno Eymard, 2018, Orphanet Journal of Rare Diseases.

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

H. Lochmüller, Rachel Thompson, E. Zanoteli, 2021, European journal of neurology.

Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

Hanns Lochmüller, R. Horvath, A. Sickmann, 2018, Proteomics. Clinical applications.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

H. Lochmüller, T. Sejersen, Rachel Thompson, 2020, European Journal of Epidemiology.

The impact of integrated omics technologies for patients with rare diseases

Hanns Lochmüller, Rachel Thompson, K. Bushby, 2014 .

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

Núria Queralt-Rosinach, José Luís Oliveira, Rajaram Kaliyaperumal, 2017, BioMed research international.

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

J. Glennon, S. Treweek, Hanns Lochmüller, 2022, BMC Medicine.

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

P. Missier, S. Beltran, Hanns Lochmüller, 2019, Human mutation.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

D. Taruscio, Hanns Lochmüller, Rachel Thompson, 2016 .

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

K. Bushby, Hanns Lochmüller, Rachel Thompson, 2016, Journal of neuromuscular diseases.

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

Hanns Lochmüller, Rachel Thompson, B. Schoser, 2009, Neuromuscular Disorders.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

C. Mungall, M. Haendel, S. Toro, 2023, medRxiv.

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

M. Gut, I. Gut, S. Beltran, 2018, American journal of medical genetics. Part A.

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

D. MacArthur, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

Adult care for Duchenne muscular dystrophy in the UK

Hanns Lochmüller, Rachel Thompson, K. Bushby, 2014, Journal of Neurology.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

E. Zanoteli, A. Hentschel, Y. Azuma, 2023, Journal of neurology.

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

H. Lochmüller, A. Robertson, R. Thompson, 2017, Advances in Experimental Medicine and Biology.

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

M. Vorgerd, H. Lochmüller, R. Horvath, 2023, Molecular Neurobiology.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.