Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

 -Catenin 1 and  -catenin 2 play similar and distinct roles in left-right asymmetric development of zebrafish embryos

(2012) M. Zhang et al.   DEVELOPMENT

Annual Summary of Vital Statistics: 2009

(2012) K. D. Kochanek et al.   PEDIATRICS

Human gene copy number spectra analysis in congenital heart malformations

(2012) Aoy Tomita-Mitchell et al.   PHYSIOLOGICAL GENOMICS

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Wnt/ -catenin signaling directly regulates Foxj1 expression and ciliogenesis in zebrafish Kupffer's vesicle

(2011) A. Caron et al.   DEVELOPMENT

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

(2011) Stephen F Kingsmore et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Accurate and comprehensive sequencing of personal genomes

(2011) S. S. Ajay et al.   GENOME RESEARCH

Costs and End-of-Life Care in the NICU: Lessons for the MICU?

(2011) John D. Lantos et al.   JOURNAL OF LAW MEDICINE & ETHICS

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The UCSC Genome Browser database: extensions and updates 2011

(2011) T. R. Dreszer et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

(2011) S. F. Kingsmore et al.   Science Translational Medicine

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Racial and Ethnic Disparities in Infant Mortality

(2011) Fern R. Hauck et al.   SEMINARS IN PERINATOLOGY

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and SNP-tolerant detection of complex variants and splicing in short reads

(2010) T. D. Wu et al.   BIOINFORMATICS

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

(2010) E Sbidian et al.   CLINICAL GENETICS

Zebrafish Nkd1 promotes Dvl degradation and is required for left–right patterning

(2010) Igor Schneider et al.   DEVELOPMENTAL BIOLOGY

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inborn errors of metabolism in a neonatology unit: Impact and long-term results

(2010) Ma Luz Couce et al.   PEDIATRICS INTERNATIONAL

Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology

(2010) Gregory J. Downing et al.   SEMINARS IN PERINATOLOGY

The $1,000 genome, the $100,000 analysis?

(2010) Elaine R Mardis   Genome Medicine

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

(2010) Nara L. M. Sobreira et al.   PLoS Genetics

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Distinct functions of Wnt/ -catenin signaling in KV development and cardiac asymmetry

(2008) X. Lin et al.   DEVELOPMENT

Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of  -catenin in mice

(2008) T. Grigoryan et al.   GENES & DEVELOPMENT

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Foxj1 transcription factors are master regulators of the motile ciliogenic program

(2008) Xianwen Yu et al.   NATURE GENETICS