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

Building ProteomeTools based on a complete synthetic human proteome

(2017) Daniel P Zolg et al.   NATURE METHODS

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

(2016) Hanns Lochmüller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The ProteomeXchange consortium in 2017: supporting the cultural change in proteomics public data deposition

(2016) Eric W. Deutsch et al.   NUCLEIC ACIDS RESEARCH

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

(2016) A. Maerkens et al.   Acta Neuropathologica Communications

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

(2016) Nina Nouhravesh et al.   Molecular Genetics & Genomic Medicine

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

The European Genome-phenome Archive of human data consented for biomedical research

(2015) Ilkka Lappalainen et al.   NATURE GENETICS

The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect

(2015) Lucia Monaco et al.   PATHOBIOLOGY

Making proteomics data accessible and reusable: Current state of proteomics databases and repositories

(2015) Yasset Perez-Riverol et al.   PROTEOMICS

Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

(2015) Frédérique Rau et al.   Nature Communications

Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples

(2015) Stefan Graw et al.   Scientific Reports

A DIseAse MOdule Detection (DIAMOnD) Algorithm Derived from a Systematic Analysis of Connectivity Patterns of Disease Proteins in the Human Interactome

(2015) Susan Dina Ghiassian et al.   PLoS Computational Biology

International Charter of principles for sharing bio-specimens and data

(2014) Deborah Mascalzoni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

(2014) Marina Mora et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A human rights approach to an international code of conduct for genomic and clinical data sharing

(2014) Bartha M. Knoppers et al.   HUMAN GENETICS

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

(2014) Rachel Thompson et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Mass-spectrometry-based draft of the human proteome

(2014) Mathias Wilhelm et al.   NATURE

Proteogenomics: concepts, applications and computational strategies

(2014) Alexey I Nesvizhskii   NATURE METHODS

Proteomic studies of formalin-fixed paraffin-embedded tissues

(2013) Laura Giusti et al.   Expert Review of Proteomics

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

(2013) A. Maerkens et al.   Journal of Proteomics

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

Complete solubilization of formalin-fixed, paraffin-embedded tissue may improve proteomic studies

(2013) Shan-Rong Shi et al.   Proteomics Clinical Applications

Neuroproteomics: understanding the molecular organization and complexity of the brain

(2009) Alex Bayés et al.   NATURE REVIEWS NEUROSCIENCE

Generation of high-quality protein extracts from formalin-fixed, paraffin-embedded tissues

(2009) Maria Filippa Addis et al.   PROTEOMICS