NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Discovery of Novel Biomarkers for Alzheimer’s Disease from Blood

(2016) Jintao Long et al.   DISEASE MARKERS

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

(2016) Monkol Lek et al.   NATURE

Blastocyst genotyping for quality control of mouse mutant archives: an ethical and economical approach

(2015) Ferdinando Scavizzi et al.   TRANSGENIC RESEARCH

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

(2014) Anne Thorwarth et al.   JOURNAL OF MEDICAL GENETICS

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

(2014) Leora Witkowski et al.   NATURE GENETICS

The InterPro protein families database: the classification resource after 15 years

(2014) Alex Mitchell et al.   NUCLEIC ACIDS RESEARCH

Genetic determinants of pulmonary fibrosis: evolving concepts

(2014) Paolo Spagnolo et al.   Lancet Respiratory Medicine

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

(2013) Aaron Hamvas et al.   CHEST

Integrative Network Analysis Unveils Convergent Molecular Pathways in Parkinson's Disease and Diabetes

(2013) Jose A. Santiago et al.   PLoS One

A Potential Novel Spontaneous Preterm Birth Gene, AR, Identified by Linkage and Association Analysis of X Chromosomal Markers

(2012) Minna K. Karjalainen et al.   PLoS One

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

(2011) Graciana Diez-Roux et al.   PLOS BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Bacitracin is not a specific inhibitor of protein disulfide isomerase

(2010) Anna-Riikka Karala et al.   FEBS Journal

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS