Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

(2017) Dorota Monies et al.   HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

(2016) Karen S Ho et al.   JOURNAL OF MEDICAL GENETICS

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

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

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Wolf-Hirschhorn syndrome: A review and update

(2015) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Interstitial microdeletion of 4p16.3: Contribution ofWHSC1haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

(2010) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome

(2009) Keisuke Nimura et al.   NATURE

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision

(2008) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS