Congenital heart disease and aortic arch variants associated with mutation in PHOX2B

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome

(2015) Hiroko Nobuta et al.   ACTA NEUROPATHOLOGICA

Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome

(2015) Tomoyuki Shimokaze et al.   JOURNAL OF HUMAN GENETICS

Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening

(2013) Qu-ming Zhao et al.   ACTA PAEDIATRICA

ModBase, a database of annotated comparative protein structure models and associated resources

(2013) Ursula Pieper et al.   NUCLEIC ACIDS RESEARCH

Twist1 Controls a Cell-Specification Switch Governing Cell Fate Decisions within the Cardiac Neural Crest

(2013) Joshua W. Vincentz et al.   PLoS Genetics

Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

(2012) Tonia C Carter et al.   JOURNAL OF HUMAN GENETICS

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome

(2012) Simona Di Lascio et al.   NEUROBIOLOGY OF DISEASE

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome

(2010) Debra E. Weese-Mayer et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Frequency of variations in aortic arch anatomy depicted on multidetector CT

(2010) G.C. Jakanani et al.   CLINICAL RADIOLOGY

Prevalence of Congenital Heart Disease at Live Birth in Taiwan

(2010) Mei-Hwan Wu et al.   JOURNAL OF PEDIATRICS

Variation in the Prevalence of Congenital Heart Defects by Maternal Race/Ethnicity and Infant Sex

(2009) Wendy N. Nembhard et al.   JOURNAL OF PEDIATRICS

An absence of Twist1 results in aberrant cardiac neural crest morphogenesis

(2008) Joshua W. Vincentz et al.   DEVELOPMENTAL BIOLOGY