CLTC as a clinically novel gene associated with multiple malformations and developmental delay

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Clathrin light chains are required for the gyrating-clathrin recycling pathway and thereby promote cell migration

(2014) Sophia R. Majeed et al.   Nature Communications

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

Activities at the Universal Protein Resource (UniProt)

(2013)   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Diversity of Clathrin Function: New Tricks for an Old Protein

(2012) Frances M. Brodsky   Annual Review of Cell and Developmental Biology

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

(2012) NA Hanchard et al.   CLINICAL GENETICS

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

A Role for Silent Synapses in the Development of the Pathway from Layer 2/3 to 5 Pyramidal Cells in the Neocortex

(2012) P. G. Anastasiades et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

(2012) A. Sailer et al.   NEUROLOGY

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

(2010) Blake C. Ballif et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Preeclampsia and future maternal health

(2010) David M Carty et al.   JOURNAL OF HYPERTENSION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Whole exome capture in solution with 3 Gbp of data

(2010) Matthew N Bainbridge et al.   GENOME BIOLOGY

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Clathrin mediates integrin endocytosis for focal adhesion disassembly in migrating cells

(2009) Ellen J. Ezratty et al.   JOURNAL OF CELL BIOLOGY

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

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

(2009) Prateek Kumar et al.   Nature Protocols

The Global Impact of Pre-eclampsia and Eclampsia

(2009) Lelia Duley   SEMINARS IN PERINATOLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake

(2008) Jaroslaw Kasprowicz et al.   JOURNAL OF CELL BIOLOGY