Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Schaaf-Yang syndrome overview: Report of 78 individuals

(2018) John McCarthy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain structural alterations in obese children with and without Prader-Willi Syndrome

(2017) Mingze Xu et al.   HUMAN BRAIN MAPPING

Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader–Willi Syndrome at High Risk for Psychosis

(2017) Akvile Lukoshe et al.   SCHIZOPHRENIA BULLETIN

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

(2015) Yi-Heng Hao et al.   MOLECULAR CELL

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

(2013) Toni S. Pearson et al.   Current Neurology and Neuroscience Reports

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Common variation contributes to the genetic architecture of social communication traits

(2013) Beate St Pourcain et al.   Molecular Autism

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

(2012) Audrey Putoux et al.   JOURNAL OF MEDICAL GENETICS

Biometry of the Corpus Callosum in Children: MR Imaging Reference Data

(2011) C. Garel et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

(2011) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The Multifaceted Roles of USP7: New Therapeutic Opportunities

(2011) Benjamin Nicholson et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Roles of HAUSP-mediated p53 regulation in central nervous system development

(2011) N Kon et al.   CELL DEATH AND DIFFERENTIATION

Protein-linked Ubiquitin Chain Structure Restricts Activity of Deubiquitinating Enzymes

(2011) Jonathan B. Schaefer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A FAM21-Containing WASH Complex Regulates Retromer-Dependent Sorting

(2009) Timothy S. Gomez et al.   DEVELOPMENTAL CELL