A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

(2019) Thais Kataoka Homma et al.   JOURNAL OF PEDIATRICS

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

(2018) S. Yousaf et al.   CLINICAL GENETICS

The inositol 5-phosphatase INPP5K participates in the fine control of ER organization

(2018) Rui Dong et al.   JOURNAL OF CELL BIOLOGY

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

(2018) Christiane K. Bauer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Intrinsic Axon Growth Modulators for Intact CNS Neurons after Injury

(2017) Kathren L. Fink et al.   Cell Reports

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Congenital Muscular Dystrophies: A Brief Review

(2011) Enrico Bertini et al.   Seminars in Pediatric Neurology

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Increased Insulin Action in SKIP Heterozygous Knockout Mice

(2008) T. Ijuin et al.   MOLECULAR AND CELLULAR BIOLOGY