Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

(2015) Daw-Yang Hwang et al.   HUMAN GENETICS

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

(2015) Karyn Meltz Steinberg et al.   Scientific Reports

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

(2014) Camille Humbert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of Both Rab-GTPase–Activating Proteins TBC1D1 and TBC1D4 in Mice Eliminates Insulin- and AICAR-Stimulated Glucose Transport

(2014) Alexandra Chadt et al.   DIABETES

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

(2014) Daw-Yang Hwang et al.   KIDNEY INTERNATIONAL

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Podocyte-Specific GLUT4-Deficient Mice Have Fewer and Larger Podocytes and Are Protected From Diabetic Nephropathy

(2013) J. Guzman et al.   DIABETES

Conventional Knockout ofTbc1d1in Mice Impairs Insulin- and AICAR-Stimulated Glucose Uptake in Skeletal Muscle

(2013) Janine Dokas et al.   ENDOCRINOLOGY

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

(2013) Carl Friedrich Classen et al.   HUMAN GENETICS

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

(2013) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

To bud or not to bud: the RET perspective in CAKUT

(2013) T. Keefe Davis et al.   PEDIATRIC NEPHROLOGY

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF 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

Epidemiology of chronic kidney disease in children

(2011) Jérôme Harambat et al.   PEDIATRIC NEPHROLOGY

TBC1D1 Regulates Insulin- and Contraction-Induced Glucose Transport in Mouse Skeletal Muscle

(2010) D. An et al.   DIABETES

Exercise-induced TBC1D1 Ser237 phosphorylation and 14-3-3 protein binding capacity in human skeletal muscle

(2010) Christian Frøsig et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations

(2010) Svend Kjær et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia

(2009) S. Dash et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Complementary regulation of TBC1D1 and AS160 by growth factors, insulin and AMPK activators

(2008) Shuai Chen et al.   BIOCHEMICAL JOURNAL

Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity

(2008) Alexandra Chadt et al.   NATURE GENETICS