Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Development of kidney glomerular endothelial cells and their role in basement membrane assembly

(2012) Dale R. Abrahamson   Organogenesis

Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism

(2011) M. G. Borrello et al.   ENDOCRINE-RELATED CANCER

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

(2011) C. Jeanpierre et al.   JOURNAL OF MEDICAL GENETICS

Array-Based Sequence Capture and Next-Generation Sequencing for the Identification of Primary Immunodeficiencies

(2011) S. Ghosh et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice

(2010) Sanjay Jain et al.   JOURNAL OF CLINICAL INVESTIGATION

Sprouty Proteins Inhibit Receptor-mediated Activation of Phosphatidylinositol-specific Phospholipase C

(2010) Simge Akbulut et al.   MOLECULAR BIOLOGY OF THE CELL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genetics of congenital anomalies of the kidney and urinary tract

(2010) Renfang Song et al.   PEDIATRIC NEPHROLOGY

Kidney Development in the Absence of Gdnf and Spry1 Requires Fgf10

(2010) Odyssé Michos et al.   PLoS Genetics

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland

(2009) John M. Darlow et al.   HUMAN MUTATION

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn

(2009) Zhao Zhang et al.   PEDIATRIC NEPHROLOGY

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS Genetics

Renal Aplasia in Humans Is Associated with RET Mutations

(2008) Michael A. Skinner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of Ret knockin mice reveals a critical role for IKKs, but not PI 3-K, in neurotrophic factor-induced survival of sympathetic neurons

(2008) M Encinas et al.   CELL DEATH AND DIFFERENTIATION

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec

(2008) Yaoming Yang et al.   HUMAN MUTATION

Loss of Sprouty1 Rescues Renal Agenesis Caused by Ret Mutation

(2008) E. J. Rozen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY