Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3)

Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk

(2023) Bianca E. Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

(2023) Isabella Lin et al.   JCI Insight

Executive and motor function in children with autism spectrum disorder

(2023) Ting Liu et al.   Cognitive Processing

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

(2022) Schaida Schirwani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The MABC-2 Checklist: A Review of the Psychometric Properties of A Screening Tool for Developmental Coordination Disorder

(2021) Kamila Banátová et al.   Journal of Occupational Therapy Schools and Early Intervention

Characterization of the plant homeodomain (PHD) reader family for their histone tail interactions

(2020) Kanishk Jain et al.   Epigenetics & Chromatin

Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD

(2020) Rujuta B. Wilson et al.   Autism Research

Genetic mimics of cerebral palsy

(2019) Toni S. Pearson et al.   MOVEMENT DISORDERS

Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials

(2019) Charlotte DiStefano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

(2019) Jill A Fahrner et al.   HUMAN MOLECULAR GENETICS

Is Motor Impairment in Autism Spectrum Disorder Distinct From Developmental Coordination Disorder? A Report From the SPARK Study

(2019) Anjana Narayan Bhat   PHYSICAL THERAPY

Motor development and delay

(2018) Rujuta B. Wilson et al.   CURRENT OPINION IN NEUROLOGY

What’s missing in autism spectrum disorder motor assessments?

(2018) Rujuta B. Wilson et al.   Journal of Neurodevelopmental Disorders

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome

(2016) Charlotte DiStefano et al.   Journal of Neurodevelopmental Disorders

Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine

(2015) Masaru Katoh   Expert Review of Proteomics

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Epigenomic strategies at the interface of genetic and environmental risk factors for autism

(2013) Janine M LaSalle   JOURNAL OF HUMAN GENETICS

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

The HARE-HTH and associated domains

(2012) L. Aravind et al.   CELL CYCLE

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

The PHD finger: a versatile epigenome reader

(2011) Roberto Sanchez et al.   TRENDS IN BIOCHEMICAL SCIENCES

Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex

(2010) J. D. Pereira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Psychometric Properties of the Revised Developmental Coordination Disorder Questionnaire

(2009) Brenda N. Wilson et al.   PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS