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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

https://doi.org/10.1038/mp.2016.113

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/jama.2014.14601openalex-snapshot

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

inferredcites →https://doi.org/10.1001/jama.2014.14604openalex-snapshot

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

inferredcites →https://doi.org/10.1001/jama.2015.4845openalex-snapshot

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

inferredcites →https://doi.org/10.1002/ajmg.a.36174openalex-snapshot

FOXP1 mutations cause intellectual disability and a recognizable phenotype

inferredcites →https://doi.org/10.1007/978-1-4939-0366-5_2openalex-snapshot

RaptorX server: A Resource for Template-Based Protein Structure Modeling

inferredcites →https://doi.org/10.1007/s00439-013-1344-xopenalex-snapshot

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

inferredcites →https://doi.org/10.1007/s00439-015-1604-zopenalex-snapshot

Europeans have a higher proportion of high-frequency deleterious variants than Africans

inferredcites →https://doi.org/10.1007/s00439-016-1664-8openalex-snapshot

Discovery of mutations for Mendelian disorders

inferredcites →https://doi.org/10.1016/j.ajhg.2010.04.006openalex-snapshot

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

inferredcites →https://doi.org/10.1016/j.celrep.2014.12.015openalex-snapshot

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

inferredcites →https://doi.org/10.1016/j.ijdevneu.2015.04.313openalex-snapshot

ISDN2014_0394: DENND5A regulates NGF‐induced neurite outgrowth in PC12 cells and dendrite patterning of primary hippocampal neurons

inferredcites →https://doi.org/10.1016/j.jmb.2004.03.016openalex-snapshot

A Combined Transmembrane Topology and Signal Peptide Prediction Method

inferredcites →https://doi.org/10.1016/j.mcn.2006.12.003openalex-snapshot

KRIP6: A novel BTB/kelch protein regulating function of kainate receptors

inferredcites →https://doi.org/10.1016/j.neuron.2005.08.030openalex-snapshot

Fezl Is Required for the Birth and Specification of Corticospinal Motor Neurons

inferredcites →https://doi.org/10.1016/j.neuron.2011.02.004openalex-snapshot

Requirement for Plk2 in Orchestrated Ras and Rap Signaling, Homeostatic Structural Plasticity, and Memory

inferredcites →https://doi.org/10.1016/j.neuron.2013.05.010openalex-snapshot

mSYD1A, a Mammalian Synapse-Defective-1 Protein, Regulates Synaptogenic Signaling and Vesicle Docking

inferredcites →https://doi.org/10.1016/j.neuron.2015.09.048openalex-snapshot

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

inferredcites →https://doi.org/10.1016/j.psychres.2014.05.034openalex-snapshot

Expression profile of neurotransmitter receptor and regulatory genes in the prefrontal cortex of spontaneously hypertensive rats: Relevance to neuropsychiatric disorders

inferredcites →https://doi.org/10.1016/j.tig.2014.11.003openalex-snapshot

Human knockout research: new horizons and opportunities

inferredcites →https://doi.org/10.1016/s0140-6736(12)61480-9openalex-snapshot

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

inferredcites →https://doi.org/10.1017/cbo9780511543982.003openalex-snapshot

Epidemiology of intellectual disability

inferredcites →https://doi.org/10.1038/36579openalex-snapshot

Math1 is essential for genesis of cerebellar granule neurons

inferredcites →https://doi.org/10.1038/ejhg.2014.13openalex-snapshot

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

inferredcites →https://doi.org/10.1038/gim.2014.184openalex-snapshot

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

inferredcites →https://doi.org/10.1038/gim.2015.147openalex-snapshot

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

inferredcites →https://doi.org/10.1038/gim.2015.200openalex-snapshot

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

inferredcites →https://doi.org/10.1038/gim.2015.30openalex-snapshot

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

inferredcites →https://doi.org/10.1038/gim.2016.37openalex-snapshot

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

inferredcites →https://doi.org/10.1038/nature13394openalex-snapshot

Genome sequencing identifies major causes of severe intellectual disability

inferredcites →https://doi.org/10.1038/nn.3183openalex-snapshot

Cooperation of Syd-1 with Neurexin synchronizes pre- with postsynaptic assembly

inferredcites →https://doi.org/10.1038/nn959openalex-snapshot

SYD-1, a presynaptic protein with PDZ, C2 and rhoGAP-like domains, specifies axon identity in C. elegans

inferredcites →https://doi.org/10.1038/nrg3999openalex-snapshot

Genetic studies in intellectual disability and related disorders

inferredcites →https://doi.org/10.1042/bsr20100124openalex-snapshot

A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing

inferredcites →https://doi.org/10.1056/nejmoa1206524openalex-snapshot

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

inferredcites →https://doi.org/10.1073/pnas.0508732102openalex-snapshot

Fezl regulates the differentiation and axon targeting of layer 5 subcortical projection neurons in cerebral cortex

inferredcites →https://doi.org/10.1073/pnas.0509032102openalex-snapshot

Zfp312 is required for subcortical axonal projections and dendritic morphology of deep-layer pyramidal neurons of the cerebral cortex

inferredcites →https://doi.org/10.1091/mbc.e04-10-0892openalex-snapshot

Genetic Analysis of the Neuronal and Ubiquitous AP-3 Adaptor Complexes Reveals Divergent Functions in Brain

inferredcites →https://doi.org/10.1093/bioinformatics/bti770openalex-snapshot

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

inferredcites →https://doi.org/10.1093/hmg/ddp389openalex-snapshot

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

inferredcites →https://doi.org/10.1093/nar/gkr948openalex-snapshot

InterPro in 2011: new developments in the family and domain prediction database

inferredcites →https://doi.org/10.1097/gim.0b013e3181fbfcc4openalex-snapshot

Autozygome decoded

inferredcites →https://doi.org/10.1097/gim.0b013e3182217a3aopenalex-snapshot

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

inferredcites →https://doi.org/10.1124/mol.107.043588openalex-snapshot

Slc39a14 Gene Encodes ZIP14, A Metal/Bicarbonate Symporter: Similarities to the ZIP8 Transporter

inferredcites →https://doi.org/10.1136/jmedgenet-2012-100819openalex-snapshot

Clinical application of exome sequencing in undiagnosed genetic conditions

inferredcites →https://doi.org/10.1186/1750-1172-8-62openalex-snapshot

Intellectual disability associated with a homozygous missense mutation in THOC6

inferredcites →https://doi.org/10.1186/s13059-015-0693-2openalex-snapshot

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

inferredcites →https://doi.org/10.1186/s13073-015-0173-zopenalex-snapshot

Natural human knockouts and the era of genotype to phenotype

inferredcites →https://doi.org/10.1371/journal.pone.0070962openalex-snapshot

Cadherin-11 Regulates Motility in Normal Cortical Neural Precursors and Glioblastoma

inferredcites →https://doi.org/10.5451/unibas-006055943openalex-snapshot

The function of Copine 6 in the brain

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Novel NUDT2 variant causes intellectual disability and polyneuropathy

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Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

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KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

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Further delineation of METTL23‐associated intellectual disability

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PLXNA2 as a candidate gene in patients with intellectual disability

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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

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An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

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The variations in human orphan G protein‐coupled receptor QRFPR affect PI3K‐AKT‐mTOR signaling

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A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

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Proteostasis regulation through ribosome quality control and no‐go‐decay

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A Diagnostic Approach for Neurogenetic Disorders in the Genome Era

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A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3

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Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

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

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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

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ASTL is mutated in female infertility

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Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant

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SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population

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Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

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Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic

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Genotype–phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients

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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

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Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

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ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya

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A de novo mutation in FMR1 in a patient with intellectual disability

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

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Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

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Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder

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Cerebellar dysfunction in a mouse model of childhood-onset manganese-induced dystonia parkinsonism

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Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors

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Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum

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Association of genetic variants at 22q11.2 chromosomal region with cognitive performance in Japanese patients with schizophrenia

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The landscape of early infantile epileptic encephalopathy in a consanguineous population

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Health repercussions of environmental exposure to lead: Methylation perspective

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The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment

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Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

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Molecular autopsy in maternal–fetal medicine

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Expanding the phenome and variome of skeletal dysplasia

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Quality control and signaling pathways at stalled ribosomes

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Genetics of intellectual disability in consanguineous families

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Pianp deficiency links GABAB receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior

inferred← citeshttps://doi.org/10.1038/s41398-021-01348-0openalex-snapshot

Mendelian randomization integrating GWAS and eQTL data revealed genes pleiotropically associated with major depressive disorder

inferred← citeshttps://doi.org/10.1038/s41431-018-0299-8openalex-snapshot

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

inferred← citeshttps://doi.org/10.1038/s41431-018-0324-yopenalex-snapshot

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

inferred← citeshttps://doi.org/10.1038/s41431-023-01425-6openalex-snapshot

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%

inferred← citeshttps://doi.org/10.1038/s41436-018-0014-8openalex-snapshot

De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

inferred← citeshttps://doi.org/10.1038/s41436-018-0055-zopenalex-snapshot

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

inferred← citeshttps://doi.org/10.1038/s41436-018-0415-8openalex-snapshot

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

inferred← citeshttps://doi.org/10.1038/s41436-019-0554-6openalex-snapshot

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

inferred← citeshttps://doi.org/10.1038/s41436-020-01047-zopenalex-snapshot

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

inferred← citeshttps://doi.org/10.1038/s41436-020-01071-zopenalex-snapshot

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

inferred← citeshttps://doi.org/10.1038/s41436-020-0771-zopenalex-snapshot

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

inferred← citeshttps://doi.org/10.1038/s41436-021-01242-6openalex-snapshot

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

inferred← citeshttps://doi.org/10.1038/s41436-021-01289-5openalex-snapshot

Residual risk for additional recessive diseases in consanguineous couples

inferred← citeshttps://doi.org/10.1038/s41467-020-16321-6openalex-snapshot

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

inferred← citeshttps://doi.org/10.1038/s41467-020-18327-6openalex-snapshot

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

inferred← citeshttps://doi.org/10.1038/s41467-020-18892-wopenalex-snapshot

Wipi3 is essential for alternative autophagy and its loss causes neurodegeneration

inferred← citeshttps://doi.org/10.1038/s41467-023-39645-5openalex-snapshot

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

inferred← citeshttps://doi.org/10.1038/s41467-024-45948-yopenalex-snapshot

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

inferred← citeshttps://doi.org/10.1038/s41467-024-51310-zopenalex-snapshot

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

inferred← citeshttps://doi.org/10.1038/s41525-021-00278-6openalex-snapshot

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

inferred← citeshttps://doi.org/10.1038/s41556-025-01690-1openalex-snapshot

SEL1L–HRD1-mediated ERAD in mammals

inferred← citeshttps://doi.org/10.1038/s41576-022-00562-wopenalex-snapshot

Autophagy genes in biology and disease

inferred← citeshttps://doi.org/10.1038/s41588-025-02075-8openalex-snapshot

Genomics of rare diseases in the Greater Middle East

inferred← citeshttps://doi.org/10.1038/s41598-018-35789-3openalex-snapshot

Systematic Analysis and Biomarker Study for Alzheimer’s Disease

inferred← citeshttps://doi.org/10.1038/s41598-019-54347-zopenalex-snapshot

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

inferred← citeshttps://doi.org/10.1038/s41598-022-08147-7openalex-snapshot

Function of SYDE C2-RhoGAP family as signaling hubs for neuronal development deduced by computational analysis

inferred← citeshttps://doi.org/10.1038/s41598-022-22036-zopenalex-snapshot

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

inferred← citeshttps://doi.org/10.1038/s41598-024-54385-2openalex-snapshot

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD

inferred← citeshttps://doi.org/10.1038/s41598-024-79431-xopenalex-snapshot

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay

inferred← citeshttps://doi.org/10.1038/s44321-024-00178-zopenalex-snapshot

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

inferred← citeshttps://doi.org/10.1055/s-0042-1757447openalex-snapshot

Gamma-Aminobutyric Acid Transaminase (GABA-T) Deficiency in a Consanguineous Saudi Family: A Case Report and Literature Review

inferred← citeshttps://doi.org/10.1055/s-0045-1807715openalex-snapshot

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives

inferred← citeshttps://doi.org/10.1073/pnas.2211522120openalex-snapshot

Dysregulation of ribosome-associated quality control elicits cognitive disorders via overaccumulation of TTC3

inferred← citeshttps://doi.org/10.1080/07853890.2025.2609424openalex-snapshot

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis

inferred← citeshttps://doi.org/10.1080/15548627.2019.1632621openalex-snapshot

Role of Wdr45b in maintaining neural autophagy and cognitive function

inferred← citeshttps://doi.org/10.1080/15548627.2025.2479427openalex-snapshot

ATG2A acts as a tether to regulate autophagosome-lysosome fusion in neural cells

inferred← citeshttps://doi.org/10.1093/alcalc/agab031openalex-snapshot

Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants

inferred← citeshttps://doi.org/10.1093/brain/awad434openalex-snapshot

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

inferred← citeshttps://doi.org/10.1093/brain/awy135openalex-snapshot

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

inferred← citeshttps://doi.org/10.1093/brain/awz248openalex-snapshot

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

inferred← citeshttps://doi.org/10.1093/gerona/glae304openalex-snapshot

The Relationship Between Ribosome-Associated Quality Control and Neurological Disorders

inferred← citeshttps://doi.org/10.1093/hmg/ddy406openalex-snapshot

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

inferred← citeshttps://doi.org/10.1093/jn/nxx041openalex-snapshot

The Multiple Faces of the Metal Transporter ZIP14 (SLC39A14)

inferred← citeshttps://doi.org/10.1093/jscr/rjag154openalex-snapshot

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report

inferred← citeshttps://doi.org/10.1096/fj.202000772ropenalex-snapshot

Role of zinc transporter ZIP12 in susceptibility‐weighted brain magnetic resonance imaging (MRI) phenotypes and mitochondrial function

inferred← citeshttps://doi.org/10.1097/dbp.0000000000000977openalex-snapshot

Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: “We Can't Just Wish This Thing Away”

inferred← citeshttps://doi.org/10.1097/mcd.0000000000000349openalex-snapshot

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings

inferred← citeshttps://doi.org/10.1101/2020.02.04.931121openalex-snapshot

Association of CDH11 with ASD revealed by matched-gene co-expression analysis and mouse behavioral studies

inferred← citeshttps://doi.org/10.1101/2021.09.06.459142openalex-snapshot

CHAS, a deconvolution tool, infers cell type-specific signatures in bulk brain histone acetylation studies of neurological and psychiatric disorders

inferred← citeshttps://doi.org/10.1101/2022.08.09.22278430openalex-snapshot

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

inferred← citeshttps://doi.org/10.1101/2022.08.23.22278845openalex-snapshot

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

inferred← citeshttps://doi.org/10.1101/2022.09.06.506502openalex-snapshot

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

inferred← citeshttps://doi.org/10.1101/2023.11.17.567618openalex-snapshot

Protein-lipid interactions drive presynaptic assembly upstream of cell adhesion molecules

inferred← citeshttps://doi.org/10.1101/2024.02.14.580338openalex-snapshot

Importin-β specific nuclear transport defects recapitulate phenotypic and transcriptional alterations seen in neurodegeneration

inferred← citeshttps://doi.org/10.1101/2025.03.02.641041openalex-snapshot

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons

inferred← citeshttps://doi.org/10.1101/2025.11.04.25339178openalex-snapshot

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

inferred← citeshttps://doi.org/10.1101/759480openalex-snapshot

Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes

inferred← citeshttps://doi.org/10.1101/817247openalex-snapshot

A missense variant impairing TRMT1 function in tRNA modification is linked to intellectual disability

inferred← citeshttps://doi.org/10.1111/bcpt.13241openalex-snapshot

The organizing principle of GABAB receptor complexes: Physiological and pharmacological implications

inferred← citeshttps://doi.org/10.1111/cge.12999openalex-snapshot

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

inferred← citeshttps://doi.org/10.1111/cge.13054openalex-snapshot

WDR45B ‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome

inferred← citeshttps://doi.org/10.1111/cge.13386openalex-snapshot

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

inferred← citeshttps://doi.org/10.1111/cge.13387openalex-snapshot

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

inferred← citeshttps://doi.org/10.1111/cge.13438openalex-snapshot

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

inferred← citeshttps://doi.org/10.1111/cge.13612openalex-snapshot

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems

inferred← citeshttps://doi.org/10.1111/cge.13951openalex-snapshot

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

inferred← citeshttps://doi.org/10.1111/cge.14132openalex-snapshot

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

inferred← citeshttps://doi.org/10.1111/cge.14588openalex-snapshot

Compound heterozygous variants in SLC45A1 might cause syndromic intellectual disability by localization failure and activity attenuation in cells

inferred← citeshttps://doi.org/10.1111/cge.14674openalex-snapshot

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation

inferred← citeshttps://doi.org/10.1126/sciadv.adg4017openalex-snapshot

Adipose tissue coregulates cognitive function

inferred← citeshttps://doi.org/10.1126/scisignal.abm5518openalex-snapshot

Proteome-wide screening for mitogen-activated protein kinase docking motifs and interactors

inferred← citeshttps://doi.org/10.1128/mcb.00203-19openalex-snapshot

Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability

inferred← citeshttps://doi.org/10.1134/s1022795424010071openalex-snapshot

Novel Genetic Risk Marker for Paranoid Schizophrenia in the Chromosomal Region 9q21.13 in Tatars: A Genome-Wide Association Analysis

inferred← citeshttps://doi.org/10.1152/ajpcell.00127.2022openalex-snapshot

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

inferred← citeshttps://doi.org/10.1159/000489842openalex-snapshot

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

inferred← citeshttps://doi.org/10.1159/000497035openalex-snapshot

Golgipathies in Neurodevelopment: A New View of Old Defects

inferred← citeshttps://doi.org/10.1159/000538979openalex-snapshot

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation

inferred← citeshttps://doi.org/10.11606/d.41.2017.tde-12072017-082102openalex-snapshot

SNP arrays na detecção de alterações estruturais e no número de cópias em pacientes portadores de deficiência intelectual idiopática

inferred← citeshttps://doi.org/10.11648/j.ijgg.20180601.13openalex-snapshot

A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia

inferred← citeshttps://doi.org/10.1186/s12859-019-2886-2openalex-snapshot

Genes with human-specific features are primarily involved with brain, immune and metabolic evolution

inferred← citeshttps://doi.org/10.1186/s12864-024-10279-1openalex-snapshot

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing

inferred← citeshttps://doi.org/10.1186/s12887-024-04542-3openalex-snapshot

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

inferred← citeshttps://doi.org/10.1186/s12916-025-04220-wopenalex-snapshot

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability

inferred← citeshttps://doi.org/10.1186/s12920-025-02141-4openalex-snapshot

Identification of intragenic variants in pediatric patients with intellectual disability in Peru

inferred← citeshttps://doi.org/10.1186/s13023-024-03214-wopenalex-snapshot

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

inferred← citeshttps://doi.org/10.1186/s13023-024-03323-6openalex-snapshot

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

inferred← citeshttps://doi.org/10.1186/s13073-019-0675-1openalex-snapshot

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

inferred← citeshttps://doi.org/10.1212/con.0000000000000556openalex-snapshot

Genetic Diagnostics for Neurologists

inferred← citeshttps://doi.org/10.1212/nxg.0000000000000677openalex-snapshot

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

inferred← citeshttps://doi.org/10.1212/wnl.0000000000007098openalex-snapshot

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

inferred← citeshttps://doi.org/10.1371/journal.pgen.1011411openalex-snapshot

NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks

inferred← citeshttps://doi.org/10.1371/journal.pone.0201041openalex-snapshot

Diagnostic value of partial exome sequencing in developmental disorders

inferred← citeshttps://doi.org/10.1542/peds.2018-1099dopenalex-snapshot

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

inferred← citeshttps://doi.org/10.18632/oncotarget.14678openalex-snapshot

Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture

inferred← citeshttps://doi.org/10.21203/rs.3.rs-4913975/v1openalex-snapshot

A novel variant of NEMF in a family with congenital fibrosis of the extraocular muscles: a case report and literature review

inferred← citeshttps://doi.org/10.21203/rs.3.rs-90298/v1openalex-snapshot

Identification of CDH11 as an ASD Risk Gene by Matched-gene Co-expression Analysis and Mouse Behavioral Studies

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