Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

(2019) Gokhan Unlu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disease Models & Mechanisms in the Age of Big Data

(2019) Antonis K. Hatzopoulos   Disease Models & Mechanisms

Expanding the phenome and variome of skeletal dysplasia

(2018) Sateesh Maddirevula et al.   GENETICS IN MEDICINE

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

(2018) Lisa Bastarache et al.   SCIENCE

Forebrain Control of Behaviorally Driven Social Orienting in Zebrafish

(2018) Sarah J. Stednitz et al.   CURRENT BIOLOGY

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

GWAS to the people

(2018)   NATURE MEDICINE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

COPII-coated membranes function as transport carriers of intracellular procollagen I

(2017) Amita Gorur et al.   JOURNAL OF CELL BIOLOGY

Phenome-wide association studies: a new method for functional genomics in humans

(2017) Dan M. Roden   JOURNAL OF PHYSIOLOGY-LONDON

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

A high-resolution mRNA expression time course of embryonic development in zebrafish

(2017) Richard J White et al.   eLife

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

(2016) Nisha Patel et al.   HUMAN GENETICS

Procollagen export from the endoplasmic reticulum

(2015) Vivek Malhotra et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A conserved role of αA-crystallin in the development of the zebrafish embryonic lens

(2015) Ping Zou et al.   EXPERIMENTAL EYE RESEARCH

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

(2015) Gaurav K. Varshney et al.   GENOME RESEARCH

Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease

(2015) Daniel S. Levic et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Orchestrating high-throughput genomic analysis with Bioconductor

(2015) Wolfgang Huber et al.   NATURE METHODS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

3-D ultrastructure and collagen composition of healthy and overloaded human tendon: evidence of tenocyte and matrix buckling

(2014) Jessica Pingel et al.   JOURNAL OF ANATOMY

The Nuclear Pore Complex Function of Sec13 Protein Is Required for Cell Survival during Retinal Development

(2014) Xubo Niu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Thrombospondin-4 controls matrix assembly during development and repair of myotendinous junctions

(2014) Arul Subramanian et al.   eLife

A molecular ensemble in the rER for procollagen maturation

(2013) Yoshihiro Ishikawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Skeletal diseases caused by mutations that affect collagen structure and function

(2013) William V. Arnold et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Trafficking mechanisms of extracellular matrix macromolecules: Insights from vertebrate development and human diseases

(2013) Gokhan Unlu et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Targeting the neural extracellular matrix in neurological disorders

(2013) S. Soleman et al.   NEUROSCIENCE

An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies

(2012) Lin S. Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new class of carriers that transport selective cargo from the trans Golgi network to the cell surface

(2012) Yuichi Wakana et al.   EMBO JOURNAL

Ric1-Rgp1 Complex Is a Guanine Nucleotide Exchange Factor for the Late Golgi Rab6A GTPase and an Effector of the Medial Golgi Rab33B GTPase

(2012) Ganesh V. Pusapati et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene

(2011) Rodney M. Dale et al.   DEVELOPMENTAL BIOLOGY

The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis

(2011) D. B. Melville et al.   Disease Models & Mechanisms

Cerebellar-Dependent Learning in Larval Zebrafish

(2011) M. Aizenberg et al.   JOURNAL OF NEUROSCIENCE

High Cleavage Efficiency of a 2A Peptide Derived from Porcine Teschovirus-1 in Human Cell Lines, Zebrafish and Mice

(2011) Jin Hee Kim et al.   PLoS One

Mutations in fam20b and xylt1 Reveal That Cartilage Matrix Controls Timing of Endochondral Ossification by Inhibiting Chondrocyte Maturation

(2011) B. Frank Eames et al.   PLoS Genetics

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

(2010) Marylyn D. Ritchie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Born to run: creating the muscle fiber

(2010) Eyal D Schejter et al.   CURRENT OPINION IN CELL BIOLOGY

UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton

(2010) B. Frank Eames et al.   DEVELOPMENTAL BIOLOGY

Cardiovascular manifestations in men and women carrying a FBN1 mutation

(2010) Delphine Détaint et al.   EUROPEAN HEART JOURNAL

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

Rab6 and myosin II at the cutting edge of membrane fission

(2010) Carmen Valente et al.   NATURE CELL BIOLOGY

Rab and actomyosin-dependent fission of transport vesicles at the Golgi complex

(2010) S. Miserey-Lenkei et al.   NATURE CELL BIOLOGY

Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal Morphogenesis

(2010) Swapnalee Sarmah et al.   PLoS One

Extracellular matrix assembly and organization during zebrafish gastrulation

(2009) Andrew Latimer et al.   MATRIX BIOLOGY

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS