SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

(2020) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

(2020) Matias Wagner et al.   GENETICS IN MEDICINE

SPEN integrates transcriptional and epigenetic control of X-inactivation

(2020) François Dossin et al.   NATURE

SPOCD1 accelerates ovarian cancer progression and inhibits cell apoptosis via the PI3K/AKT pathway

(2020) Dajiang Liu et al.   OncoTargets and Therapy

Spen links RNA-mediated endogenous retrovirus silencing and X chromosome inactivation

(2020) Ava C Carter et al.   eLife

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

(2020) Marialetizia Motta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders

(2020) Kaifang Pang et al.   GENOME RESEARCH

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

(2020) Tianyun Wang et al.   Nature Communications

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

(2019) Paranchai Boonsawat et al.   GENETICS IN MEDICINE

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

(2019) Nicolas Chatron et al.   BRAIN

Genotype-phenotype correlations in individuals with pathogenic RERE variants

(2018) Valerie K. Jordan et al.   HUMAN MUTATION

A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex

(2018) Suijuan Zhong et al.   NATURE

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

(2018) Isabelle Thiffault et al.   HUMAN MUTATION

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

An autonomous metabolic role for Spen

(2017) Kelsey E. Hazegh et al.   PLoS Genetics

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

(2016) Brieana Fregeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

Minireview: The Link Between ERα Corepressors and Histone Deacetylases in Tamoxifen Resistance in Breast Cancer

(2016) Stéphanie Légaré et al.   MOLECULAR ENDOCRINOLOGY

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

(2015) Shino Shimada et al.   BRAIN & DEVELOPMENT

The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers

(2015) S. Legare et al.   CANCER RESEARCH

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

The Xist lncRNA interacts directly with SHARP to silence transcription through HDAC3

(2015) Colleen A. McHugh et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Identification of Spen as a Crucial Factor for Xist Function through Forward Genetic Screening in Haploid Embryonic Stem Cells

(2015) Asun Monfort et al.   Cell Reports

Trends in the Prevalence of Autism Spectrum Disorder, Cerebral Palsy, Hearing Loss, Intellectual Disability, and Vision Impairment, Metropolitan Atlanta, 1991–2010

(2015) Kim Van Naarden Braun et al.   PLoS One

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

(2014) Hitisha P. Zaveri et al.   PLoS One

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

(2013) Anne-Karin Arndt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

(2010) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

(2009) Carla S. D'Angelo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new case of proximal monosomy 1p36, extending the phenotype

(2008) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS