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| 36658335 | Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. | | 2023 |
| 36370168 | ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature. | Virchows Archiv | 2023 |
| 36307226 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>. | Neurology | 2023 |
| 35644639 | Sclerosing perivascular epithelioid cell tumour (PEComa) of the testis in a patient with tuberous sclerosis complex. | Pathology | 2023 |
| 36117209 | Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. | Molecular Psychiatry | 2023 |
| 37951160 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | | 2023 |
| 37579995 | Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma. | Neurobiol Dis | 2023 |
| 37639957 | Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75]. | Seizure | 2023 |
| 37977818 | Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. | | 2023 |
| 37632295 | Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies. | | 2023 |
| 36779245 | WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. | | 2023 |
| 36774776 | Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission. | Seizure | 2023 |
| 37126322 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | JAMA Neurol | 2023 |
| 36623768 | Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE. | | 2023 |
| 37039534 | Recognition and epileptology of protracted CLN3 disease. | | 2023 |
| 35137044 | Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. | Hum Mol Genet | 2022 |
| 35395208 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Am J Hum Genet | 2022 |
| 36367278 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Am J Med Genet A | 2022 |
| 36030538 | Mosaicism in tuberous sclerosis complex:Â Lowering the threshold for clinical reporting. | Human Mutation | 2022 |
| 36088682 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | EBioMedicine | 2022 |
| 35950645 | A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force. | Epilepsia Open | 2022 |
| 35380630 | UNC13B and focal epilepsy. | Brain | 2022 |
| 35633942 | Genetic factors and shared environment contribute equally to objective singing ability. | iScience | 2022 |
| 36259125 | A companion to the preclinical common data elements for proteomics, lipidomics, and metabolomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force. | Epilepsia Open | 2022 |
| 36192176 | Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. | Neurology | 2022 |
| 35786744 | Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. | Brain | 2022 |
| 35063350 | CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. | Genetics in Medicine | 2022 |
| 35296891 | Atypical development of Broca's area in a large family with inherited stuttering. | Brain | 2022 |
| 35307825 | Self-reported impact of developmental stuttering across the lifespan. | Developmental Medicine and Child Neurology | 2022 |
| 35034092 | Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. | European Journal of Human Genetics | 2022 |
| 34717047 | Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. | Epilepsia Open | 2022 |
| 35179230 | PIGN encephalopathy: Characterizing the epileptology. | Epilepsia | 2022 |
| 35097204 | Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. | Neurology: Genetics | 2022 |
| 34588213 | Somatic variant (p.R132C) in an adult male with Maffucci syndrome. | Cold Spring Harbor molecular case studies | 2021 |
| 33738444 | Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. | Brain Communications | 2021 |
| 34002542 | Loss-of-function variants in K 11.1 cardiac channels as a biomarker for SUDEP. | Annals of Clinical and Translational Neurology | 2021 |
| 34038384 | Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. | Neurology | 2021 |
| 33207017 | Transcriptome analysis of a ring chromosome 20 patient cohort. | Epilepsia | 2021 |
| 33144681 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Genet Med | 2021 |
| 33421703 | Contribution of rare genetic variants to drug response in absence epilepsy. | Epilepsy Research | 2021 |
| 34519595 | Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies. | Expert Review of Neurotherapeutics | 2021 |
| 34649968 | Identification of a recurrent mosaic variant in brain tissue from an individual with nevus sebaceous syndrome. | Cold Spring Harbor molecular case studies | 2021 |
| 34374121 | Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. | Annals of Neurology | 2021 |
| 33058759 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Am J Hum Genet | 2020 |
| 32203200 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | European Journal of Human Genetics | 2020 |
| 32345733 | Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. | Neurology | 2020 |
| 32162308 | Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. | Epilepsia | 2020 |
| 32097630 | Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. | Neuron | 2020 |
| 31755124 | SCN1A Variants in vaccine-related febrile seizures: A prospective study. | Annals of Neurology | 2020 |
| 32561755 | A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. | Nat Commun | 2020 |