Mutations of PTPN23 in developmental and epileptic encephalopathy

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Epileptic Encephalopathies: Clinical Aspects, Molecular Features and Pathogenesis, Therapeutic Targets and Translational Opportunities, and Future Research Directions

(2017) Blair Germain et al.   JOURNAL OF CHILD NEUROLOGY

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

(2016) Malte Spielmann et al.   GENOME RESEARCH

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

(2016) Sanaz Manteghi et al.   Cell Reports

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

(2015) Semra Gürsoy et al.   JOURNAL OF CHILD NEUROLOGY

The catalytically inactive tyrosine phosphatase HD-PTP/PTPN23 is a novel regulator of SMN complex localization

(2015) Alma Husedzinovic et al.   MOLECULAR BIOLOGY OF THE CELL

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

(2012) Y. Jane Tavyev Asher et al.   European Journal of Medical Genetics

UBAP1 Is a Component of an Endosome-Specific ESCRT-I Complex that Is Essential for MVB Sorting

(2011) Flavia Stefani et al.   CURRENT BIOLOGY

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

(2011) Julia Vogt et al.   HUMAN MUTATION

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Expression analysis and essential role of the putative tyrosine phosphatase His-domain-containing protein tyrosine phosphatase (HD-PTP)

(2009) Marie-Claude Gingras et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

HD-PTP Is a Catalytically Inactive Tyrosine Phosphatase Due to a Conserved Divergence in Its Phosphatase Domain

(2009) Marie-Claude Gingras et al.   PLoS One

The Bro1-related protein HD-PTP/PTPN23 is required for endosomal cargo sorting and multivesicular body morphogenesis

(2008) A. Doyotte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA