A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

(2014) Kathleen A. Williamson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sfrp1a and Sfrp5 function as positive regulators of Wnt and BMP signaling during early retinal development

(2014) Vanessa L. Holly et al.   DEVELOPMENTAL BIOLOGY

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

A general approach to power calculation for relationship testing

(2013) Thore Egeland et al.   Forensic Science International-Genetics

Canonical Wnt/β-Catenin Signalling Is Essential for Optic Cup Formation

(2013) Anna-Carin Hägglund et al.   PLoS One

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma

(2012) Chunqiao Liu et al.   HUMAN MOLECULAR GENETICS

The Dkk1 dose is critical for eye development

(2011) Oliver Lieven et al.   DEVELOPMENTAL BIOLOGY

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

(2011) Linda M. Reis et al.   HUMAN GENETICS

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

(2011) Joe Rainger et al.   PLoS Genetics

Development of a bioassay for detection of Wnt-binding affinities for individual frizzled receptors

(2010) Kendra S. Carmon et al.   ANALYTICAL BIOCHEMISTRY

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies

(2010) Alexander W. Wyatt et al.   HUMAN MUTATION

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

(2009) M. Ye et al.   HUMAN MOLECULAR GENETICS

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Canonical Wnt signaling is required for the maintenance of dorsal retinal identity

(2008) E. S. Veien et al.   DEVELOPMENT

An essential role for frizzled 5 in mammalian ocular development

(2008) C. Liu et al.   DEVELOPMENT

Investigation of Frizzled-5 during embryonic neural development in mouse

(2008) Carole J. Burns et al.   DEVELOPMENTAL DYNAMICS

Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes

(2008) Cheng-Ji Zhou et al.   DEVELOPMENTAL DYNAMICS

Secreted Frizzled-Related Protein 4 Regulates Two Wnt7a Signaling Pathways and Inhibits Proliferation in Endometrial Cancer Cells

(2008) K. S. Carmon et al.   MOLECULAR CANCER RESEARCH