ArticleJournal of medical genetics2023
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 30 citations in OpenAlex.
- Unstructured transcription factor interactions enable emergent specificity.Science (New York, N.Y.) · 2026Article
- Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signaling.The Journal of clinical investigation · 2026Article
- Gene Expression-Based Lesion-Symptom Mapping:The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.Developmental medicine and child neurology · 2025Article
- Collective unstructured interactions drive chromatin binding of transcription factors.bioRxiv : the preprint server for biology · 2025Article
- Normative aging results in degradation of gene networks in a zebra finch basal ganglia nucleus dedicated to vocal behavior.Neurobiology of aging · 2025Article
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Speech and language classification in the human phenotype ontology.European journal of human genetics : EJHG · 2024Article
- Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders.Psychiatry and clinical neurosciences · 2024Article
- Activity of forkhead box P2-positive neurons is associated with tadpole begging behaviour.Biology letters · 2024Article
- Activity of FoxP2-positive neurons is associated with tadpole begging behavior.bioRxiv : the preprint server for biology · 2024Article
- Compensation between FOXP transcription factors maintains proper striatal function.Cell reports · 2024Article
- Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Journal of medical genetics · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Identification of Novel Genomic Loci for Anxiety and Extensive Genetic Overlap with Psychiatric Disorders.medRxiv : the preprint server for health sciences · 2024Article
- Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.Frontiers in neuroscience · 2024Article
- Genome Sequencing of Idiopathic Speech Delay.Human mutation · 2024Article
- Evo-devo applied to sleep research: an approach whose time has come.Sleep advances : a journal of the Sleep Research Society · 2024Review
Corrections and comments
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Authors and funding
23 authors at 17 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHeterozygous disruptions of
methodsHere we phenotyped 28 individuals from 17 families with pathogenic
resultsSpeech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, 'th', 'r', 'ch', 'j') were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition.
conclusionsAlthough we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.