Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Genomically integrated transgenes are stably and conditionally expressed in neural crest cell-specific lineages

(2011) Yasuhiro Yokota et al.   DEVELOPMENTAL BIOLOGY

Disruption of long-distance highly conserved noncoding elements in neurocristopathies

(2010) Jeanne Amiel et al.   Annals of the New York Academy of Sciences

A newly discovered mutation in PICK1 in a human with globozoospermia

(2010) Gang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Olig2 regulates Sox10 expression in oligodendrocyte precursors through an evolutionary conserved distal enhancer

(2010) M. Kuspert et al.   NUCLEIC ACIDS RESEARCH

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

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

PICK1 deficiency causes male infertility in mice by disrupting acrosome formation

(2009) Nan Xiao et al.   JOURNAL OF CLINICAL INVESTIGATION

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

(2008) Anthony Antonellis et al.   PLoS Genetics