Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

(2016) V. Oikonomakis et al.   CLINICAL GENETICS

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

(2016) Nuria C. Bramswig et al.   HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The E3 Ubiquitin Ligase Thyroid Hormone Receptor-interacting Protein 12 Targets Pancreas Transcription Factor 1a for Proteasomal Degradation

(2014) Naïma Hanoun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential Effects on ARF Stability by Normal versus Oncogenic Levels of c-Myc Expression

(2013) Delin Chen et al.   MOLECULAR CELL

Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer

(2013) Georgia Velimezi et al.   NATURE CELL BIOLOGY

TRIP12 and UBR5 Suppress Spreading of Chromatin Ubiquitylation at Damaged Chromosomes

(2012) Thorkell Gudjonsson et al.   CELL

HUWE1 and TRIP12 Collaborate in Degradation of Ubiquitin-Fusion Proteins and Misframed Ubiquitin

(2012) Esben G. Poulsen et al.   PLoS One

The E3 Ubiquitin Ligase Activity of Trip12 Is Essential for Mouse Embryogenesis

(2011) Masashi Kajiro et al.   PLoS One

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses

(2010) Delin Chen et al.   NATURE

Physiological functions of the HECT family of ubiquitin ligases

(2009) Daniela Rotin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

TRIP12 functions as an E3 ubiquitin ligase of APP-BP1

(2008) Yoon Park et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation

(2008) Martine Doco-Fenzy et al.   European Journal of Medical Genetics