Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget’s Disease of Bone and Modifies the Age of Onset

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Dysregulation of Rab5-mediated endocytic pathways in Alzheimer's disease

(2018) Wei Xu et al.   TRAFFIC

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

(2017) Sandra Jansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Emerging nexus between RAB GTPases, autophagy and neurodegeneration

(2016) Navodita Jain et al.   Autophagy

The contribution of intrinsically disordered regions to protein function, cellular complexity, and human disease

(2016) M. Madan Babu   BIOCHEMICAL SOCIETY TRANSACTIONS

BRCA Testing by Single-Molecule Molecular Inversion Probes

(2016) Kornelia Neveling et al.   CLINICAL CHEMISTRY

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

(2016) Monkol Lek et al.   NATURE

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone

(2015) Mahéva Vallet et al.   HUMAN MOLECULAR GENETICS

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

(2014) Evan A. Boyle et al.   BIOINFORMATICS

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

(2014) Geert Vandeweyer et al.   Genome Medicine

Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment

(2014) John P. Kemp et al.   PLoS Genetics

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

RINL, Guanine Nucleotide Exchange Factor Rab5-Subfamily, Is Involved in the EphA8-Degradation Pathway with Odin

(2012) Hiroaki Kajiho et al.   PLoS One

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder

(2012) Vladimir Vacic et al.   PLoS Computational Biology

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Characterization of RIN3 as a Guanine Nucleotide Exchange Factor for the Rab5 Subfamily GTPase Rab31

(2011) Hiroaki Kajiho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

(2011) Omar M E Albagha et al.   NATURE GENETICS

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Tyr-phosphorylation signals translocate RIN3, the small GTPase Rab5-GEF, to early endocytic vesicles

(2008) Manabu Yoshikawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS