Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

(2011) Hon-Cheong So et al.   GENETIC EPIDEMIOLOGY

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

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

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

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

(2010) Stella Marie Reamon-Buettner et al.   HUMAN MUTATION

Familial Aggregation and Heritability of Pyloric Stenosis

(2010) Camilla Krogh   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genome-wide association study of PR interval

(2010) Arne Pfeufer et al.   NATURE GENETICS

Global regulation of alternative splicing during myogenic differentiation

(2010) Christopher S. Bland et al.   NUCLEIC ACIDS RESEARCH

Six2 activity is required for the formation of the mammalian pyloric sphincter

(2009) Michelle Self et al.   DEVELOPMENTAL BIOLOGY

Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

New insights into the pathogenesis of infantile pyloric stenosis

(2009) Christina Panteli   PEDIATRIC SURGERY INTERNATIONAL

Infantile hypertrophic pyloric stenosis: genes and environment

(2008) E. Chung   ARCHIVES OF DISEASE IN CHILDHOOD

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA