Disruption of long-distance highly conserved noncoding elements in neurocristopathies

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The same enhancer regulates the earliest Emx2 expression in caudal forebrain primordium, subsequent expression in dorsal telencephalon and later expression in the cortical ventricular zone

(2010) Y. Suda et al.   DEVELOPMENT

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

(2010) Axel Visel et al.   NATURE

L1cam acts as a modifier gene during enteric nervous system development

(2010) Adam S. Wallace et al.   NEUROBIOLOGY OF DISEASE

Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest

(2010) Paola Betancur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease

(2009) Dominique J. Verlaan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend

(2009) David M McGaughey et al.   BMC GENOMICS

A cluster of three long-range enhancers directs regional Shh expression in the epithelial linings

(2009) T. Sagai et al.   DEVELOPMENT

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

(2009) L. de Pontual et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

(2008) Yongsu Jeong et al.   NATURE GENETICS

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

(2008) Fedik Rahimov et al.   NATURE GENETICS

Large-Scale Appearance of Ultraconserved Elements in Tetrapod Genomes and Slowdown of the Molecular Clock

(2007) S. Stephen et al.   MOLECULAR BIOLOGY AND EVOLUTION