| 38044714 | CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. | Clin Genet | 2024 |
| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 36114283 | The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. | Eur J Hum Genet | 2023 |
| 37586838 | Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. | J Med Genet | 2023 |
| 37550531 | PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. | Nat Genet | 2023 |
| 37350176 | Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome. | Am J Med Genet A | 2023 |
| 37195288 | ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. | Hum Mol Genet | 2023 |
| 36751037 | A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. | Am J Med Genet A | 2023 |
| 36436153 | GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders. | J Neural Transm (Vienna) | 2023 |
| 36529818 | Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature. | Eur J Hum Genet | 2023 |
| 36177608 | Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. | Am J Med Genet A | 2023 |
| 36328423 | In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>. | J Med Genet | 2023 |
| 34286667 | Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders. | Autophagy | 2022 |
| 35617047 | RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. | J Clin Invest | 2022 |
| 35887345 | DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome. | Int J Mol Sci | 2022 |
| 36189752 | Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening. | Clin Chem | 2022 |
| 36008773 | The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA. | BMC Psychiatry | 2022 |
| 34906484 | Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders. | Genet Med | 2022 |
| 32346159 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. | Mol Psychiatry | 2021 |
| 33603161 | Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. | Eur J Hum Genet | 2021 |
| 33909990 | Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. | Am J Hum Genet | 2021 |
| 33565190 | TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. | Hum Mutat | 2021 |
| 34314705 | TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Am J Hum Genet | 2021 |
| 34114611 | KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. | Brain | 2021 |
| 33144681 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Genet Med | 2021 |
| 33077894 | JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. | Genet Med | 2021 |
| 33439542 | Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. | Am J Med Genet A | 2021 |
| 32934367 | Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes. | Genet Med | 2021 |
| 32559475 | Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. | Lancet Diabetes Endocrinol | 2020 |
| 32001716 | Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. | Nat Commun | 2020 |
| 31776469 | De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. | Genet Med | 2020 |
| 33073849 | De novo variants in MPP5 cause global developmental delay and behavioral changes. | Hum Mol Genet | 2020 |
| 32738225 | De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. | Am J Hum Genet | 2020 |
| 30568311 | Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. | Genet Med | 2019 |
| 29875423 | Aminoacyl-tRNA synthetase deficiencies in search of common themes. | Genet Med | 2019 |
| 31054119 | Treatment Responsiveness in KCNT1-Related Epilepsy. | Neurotherapeutics | 2019 |
| 30849329 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | Am J Hum Genet | 2019 |
| 29351919 | High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. | Clin Cancer Res | 2018 |
| 30012219 | Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. | Orphanet J Rare Dis | 2018 |
| 29900417 | The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants. | Wellcome Open Res | 2018 |
| 30526862 | Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. | Am J Hum Genet | 2018 |
| 29209020 | A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. | Eur J Hum Genet | 2018 |
| 29225339 | Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. | Eur J Hum Genet | 2018 |
| 28074630 | Quantification of Phenotype Information Aids the Identification of Novel Disease Genes. | Hum Mutat | 2017 |
| 28440867 | The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. | Epilepsia | 2017 |
| 28139826 | Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. | Epilepsia | 2017 |
| 28498556 | Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. | Am J Med Genet A | 2017 |
| 29258477 | Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. | BMC Biotechnol | 2017 |
| 28704368 | Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. | PLoS Genet | 2017 |
| 28575647 | YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. | Am J Hum Genet | 2017 |