Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence

Developmental and genetic perspectives on Pierre Robin sequence

(2013) Tiong Yang Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter

(2013) Marta Smyk et al.   CHROMOSOME RESEARCH

Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

(2013) Marta Sanchez-Castro et al.   HUMAN MUTATION

A far-upstream (−70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration

(2013) Timothy J. Mead et al.   NUCLEIC ACIDS RESEARCH

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

(2013) C. Attanasio et al.   SCIENCE

Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences

(2013) Vydianathan Ravi et al.   PLoS Genetics

Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

(2012) Maki Fukami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus

(2012) X. Zhang et al.   GENOME RESEARCH

A misplaced lncRNA causes brachydactyly in humans

(2012) Philipp G. Maass et al.   JOURNAL OF CLINICAL INVESTIGATION

The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

(2011) Harry Hochheiser et al.   DEVELOPMENTAL BIOLOGY

Sox9 function in craniofacial development and disease

(2011) Young-Hoon Lee et al.   GENESIS

XX males SRY negative: a confirmed cause of infertility

(2011) A. Vetro et al.   JOURNAL OF MEDICAL GENETICS

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

(2011) S. Benko et al.   JOURNAL OF MEDICAL GENETICS

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

(2011) James J. Cox et al.   NEW ENGLAND JOURNAL OF MEDICINE

Understanding the role of SOX9 in acquired diseases: lessons from development

(2011) James Pritchett et al.   TRENDS IN MOLECULAR MEDICINE

c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient

(2010) Pranoot Tanpaiboon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A unique chromatin signature uncovers early developmental enhancers in humans

(2010) Alvaro Rada-Iglesias et al.   NATURE

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

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

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

ChIP-seq accurately predicts tissue-specific activity of enhancers

(2009) Axel Visel et al.   NATURE

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

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Sox9 is required for invagination of the otic placode in mice

(2008) Francisco Barrionuevo et al.   DEVELOPMENTAL BIOLOGY

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE