Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias

Dkk1 in the peri-cloaca mesenchyme regulates formation of anorectal and genitourinary tracts

(2013) Chaoshe Guo et al.   DEVELOPMENTAL BIOLOGY

The Genome of the Netherlands: design, and project goals

(2013) Dorret I Boomsma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Down-Regulation of SHH/BMP4 Signalling in Human Anorectal Malformations

(2013) J Zhang et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

Genome-wide copy number variation study in anorectal malformations

(2012) Emily H.M. Wong et al.   HUMAN MOLECULAR GENETICS

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature

(2010) Yoko Narumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability in a family with Townes–Brocks syndrome

(2010) Yosuke Sudo et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Dosage-dependent hedgehog signals integrated with Wnt/ -catenin signaling regulate external genitalia formation as an appendicular program

(2009) S. Miyagawa et al.   DEVELOPMENT

Temporal and spatial dissection of Shh signaling in genital tubercle development

(2009) C. Lin et al.   DEVELOPMENT

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

A Simple Way to Treat PCR Products Prior to Sequencing Using ExoSAP-IT®

(2008) Jonathan R. Bell   BIOTECHNIQUES