Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT

Lipid-transfer proteins rectify inter-organelle flux and accurately deliver lipids at membrane contact sites

(2018) Kentaro Hanada   JOURNAL OF LIPID RESEARCH

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

(2018) Atsushi Takata et al.   Cell Reports

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

(2017) Yumi Enomoto et al.   CONGENITAL ANOMALIES

Effectiveness of interventions for adults with mild to moderate intellectual disabilities and mental health problems: systematic review and meta-analysis

(2016) Nadine Koslowski et al.   BRITISH JOURNAL OF PSYCHIATRY

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Phosphoregulation of the Ceramide Transport Protein CERT at Serine 315 in the Interaction with VAMP-associated Protein (VAP) for Inter-organelle Trafficking of Ceramide in Mammalian Cells

(2014) Keigo Kumagai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Establishment of HeLa Cell Mutants Deficient in Sphingolipid-Related Genes Using TALENs

(2014) Toshiyuki Yamaji et al.   PLoS One

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Co-evolution of sphingomyelin and the ceramide transport protein CERT

(2013) Kentaro Hanada   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Revised Stereochemistry of Ceramide-Trafficking Inhibitor HPA-12 by X-ray Crystallography Analysis

(2013) Masaharu Ueno et al.   ORGANIC LETTERS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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