Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

Axial and appendicular skeletal transformations, ligament alterations, and motor neuron loss in Hoxc10 mutants

(2012) Sirkka Liisa Hostikka et al.   International Journal of Biological Sciences

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

(2011) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The phenotype of recurrent 10q22q23 deletions and duplications

(2011) Bregje W M van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

(2011) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

(2010) David M. Alvarado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

(2010) Munis Dundar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

(2010) Heather C. Mefford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

(2010) S Alliman et al.   CLINICAL GENETICS

Analysis of Ripply1/2-deficient mouse embryos reveals a mechanism underlying the rostro-caudal patterning within a somite

(2010) Jun Takahashi et al.   DEVELOPMENTAL BIOLOGY

Tbx4 and Tbx5 Acting in Connective Tissue Are Required for Limb Muscle and Tendon Patterning

(2010) Peleg Hasson et al.   DEVELOPMENTAL CELL

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Lsh Mediated RNA Polymerase II Stalling at HoxC6 and HoxC8 Involves DNA Methylation

(2010) Yongguang Tao et al.   PLoS One

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Altered transmission ofHOXand apoptotic SNPs identify a potential common pathway for clubfoot

(2009) Audrey R. Ester et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impact of congenital talipes equinovarus etiology on treatment outcomes

(2009) Christina A Gurnett et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

(2008) Christina A. Gurnett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs

(2008) D. B. Menke et al.   DEVELOPMENT

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polygenic Threshold Model with Sex Dimorphism in Clubfoot Inheritance: The Carter Effect

(2008) Lisa M Kruse et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Activator-to-Repressor Conversion of T-Box Transcription Factors by the Ripply Family of Groucho/TLE-Associated Mediators

(2008) A. Kawamura et al.   MOLECULAR AND CELLULAR BIOLOGY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Fine mapping of a de novo interstitial 10q22–q23 duplication in a patient with congenital heart disease and microcephaly

(2007) F. Erdogan et al.   European Journal of Medical Genetics