4.8 Article

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

Related references

Note: Only part of the references are listed.
Review Biochemistry & Molecular Biology

Development of the diaphragm - a skeletal muscle essential for mammalian respiration

Allyson J. Merrell et al.

FEBS JOURNAL (2013)

Article Multidisciplinary Sciences

Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia

Garry L. Coles et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Review Physiology

Current concepts on the pathogenesis and etiology of congenital diaphragmatic hernia

John J. Greer

RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY (2013)

Article Multidisciplinary Sciences

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

Meaghan K. Russell et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Medicine, Research & Experimental

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger et al.

JOURNAL OF CLINICAL INVESTIGATION (2011)

Article Genetics & Heredity

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux et al.

NATURE GENETICS (2011)

Article Genetics & Heredity

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

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biochemistry & Molecular Biology

Understanding Abnormal Retinoid Signaling as a Causative Mechanism in Congenital Diaphragmatic Hernia

Robin D. Clugston et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2010)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Review Developmental Biology

A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

Barbara R. Pober et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2009)

Article Biochemical Research Methods

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

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Multidisciplinary Sciences

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

Karel F. Liem et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Review Genetics & Heredity

Genetic aspects of human congenital diaphragmatic hernia

B. R. Pober

CLINICAL GENETICS (2008)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Biotechnology & Applied Microbiology

A human phenome-interactome network of protein complexes implicated in genetic disorders

Kasper Lage et al.

NATURE BIOTECHNOLOGY (2007)

Article Developmental Biology

Eya1 and Eya2 proteins are required for hypaxial somitic myogenesis in the mouse embryo

Raphaelle Grifone et al.

DEVELOPMENTAL BIOLOGY (2007)

Article Developmental Biology

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia

G Casaccia et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2006)

Article Biochemistry & Molecular Biology

TGIF inhibits retinoid signaling

L Bartholin et al.

MOLECULAR AND CELLULAR BIOLOGY (2006)

Review Genetics & Heredity

Canine genomics and genetics: Running with the pack

HG Parker et al.

PLOS GENETICS (2005)

Article Biochemistry & Molecular Biology

The nuclear orphan receptor COUP-TFII is required for limb and skeletal muscle development

CT Lee et al.

MOLECULAR AND CELLULAR BIOLOGY (2004)

Article Pediatrics

Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway

PCW Kim et al.

JOURNAL OF PEDIATRIC SURGERY (2001)