Genome sequencing identifies major causes of severe intellectual disability

An integrated encyclopedia of DNA elements in the human genome

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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Diagnostic exome sequencing in persons with severe intellectual disability

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De novo mutations in epileptic encephalopathies

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A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

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Delivery of a Clinical Genomics Service

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Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development

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The phenotypic spectrum of X‐linked, infantile onset ALG13 ‐related developmental and epileptic encephalopathy

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CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

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Genomic approaches to diagnose rare bone disorders

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Next-Generation Sequencing in Intellectual Disability

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Toward Health Technology Assessment of Whole-Genome Sequencing Diagnostic Tests: Challenges and Solutions

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Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists

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MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

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Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samplesPreprint

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Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

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Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

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Impact of Paternal Age at Conception on Human Health

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Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

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CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

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Enteric neuropathies: Yesterday, Today and Tomorrow

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A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

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Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

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Challenges in molecular diagnosis of X-linked Intellectual disability

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Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

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Genome sequencing in families with congenital limb malformations

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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

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Newborn screening and the era of medical genomics

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Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience

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Influence of paternal age on ongoing pregnancy rate at eight weeks' gestation in assisted reproduction

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Putting genome-wide sequencing in neonates into perspective

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Axonal branch patterning and neuronal shape diversity: roles in developmental circuit assembly

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CRISPR/dCas9 as a Therapeutic Approach for Neurodevelopmental Disorders: Innovations and Limitations Compared to Traditional Strategies

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What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?

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Prevalence and Architecture of De Novo Mutations in Developmental Disorders

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Gating of Social Behavior by Inhibitory Inputs from Hippocampal CA1 to Retrosplenial Agranular Cortex

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Explainable AI in early autism detection: a literature review of interpretable machine learning approaches

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Genetic testing in children and adolescents with intellectual disability

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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders

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Present and future of developmental neuropsychopharmacology

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Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

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Evaluation of the Child With Developmental Impairments

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A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

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Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

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Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples

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Role of carotenoids and retinoids during heart development

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De novo mutations in children born after medical assisted reproduction

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Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure

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Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental Disorders

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Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

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Genomic and Transcriptomic Analysis for Identification of Genes and Interlinked Pathways Mediating Artemisinin Resistance in Leishmania donovani

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Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?

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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

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Comprehensive immunoprofiling of neurodevelopmental disorders suggests three distinct classes based on increased neurogenesis, Th-1 polarization or IL-1 signaling

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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome

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DeSanto-Shinawi Syndrome: First Case in South America

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De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

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Utilization and uptake of clinical genetics services in high-income countries: A scoping review

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Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

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Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

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Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for “perfect genome” sequencing

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Discovery of genomic variation across a generation

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MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

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IQSEC2 and X-linked syndromal intellectual disability

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mirDNMR: a gene-centered database of backgroundde novomutation rates in human

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Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study

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Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the Drosophila mushroom body

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The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

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Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

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Comorbidities associated with genetic abnormalities in children with intellectual disability

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Association between type 1 diabetes and neurodevelopmental disorders in children and adolescents: A systematic review and meta-analysis

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Role of non‐coding variants in cardiovascular disease

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Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria

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What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

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Towards precision nephrology: the opportunities and challenges of genomic medicine

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Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care

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Paediatric palliative care and intellectual disability—A unique context

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GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service

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Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersPreprint

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