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| 36376761 | SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing. | Hum Genet | 2023 |
| 36376761 | SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing. | Hum Genet | 2023 |
| 36167815 | Pharmacogenetic profiling via genome sequencing in children with medical complexity. | Pediatr Res | 2023 |
| 35979925 | CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. | Brain | 2023 |
| 36440975 | ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. | Hum Mol Genet | 2023 |
| 37805537 | Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. | Genome Med | 2023 |
| 37644171 | CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. | Eur J Hum Genet | 2023 |
| 37777856 | GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors. | Am J Psychiatry | 2023 |
| 37154571 | Gene copy number variation and pediatric mental health/neurodevelopment in a general population. | Hum Mol Genet | 2023 |
| 36585449 | The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. | Nat Cancer | 2023 |
| 37280359 | Three generation families: Analysis of de novo variants in autism. | Eur J Hum Genet | 2023 |
| 37330697 | Contemplating syndromic autism. | Genet Med | 2023 |
| 36635662 | Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons. | BMC Med Genomics | 2023 |
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. | Am J Hum Genet | 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 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 37234706 | Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data. | Front Pharmacol | 2023 |
| 36604605 | Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. | Mol Psychiatry | 2023 |
| 37526168 | Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study. | Autism Res | 2023 |
| 37481629 | Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling. | Commun Biol | 2023 |
| 37290907 | The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples. | J Med Genet | 2023 |
| 37805537 | Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. | Genome Med | 2023 |
| 37526168 | Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study. | Autism Res | 2023 |
| 37481629 | Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling. | Commun Biol | 2023 |
| 37777856 | GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors. | Am J Psychiatry | 2023 |
| 37644171 | CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. | Eur J Hum Genet | 2023 |
| 37290907 | The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples. | J Med Genet | 2023 |
| 37154571 | Gene copy number variation and pediatric mental health/neurodevelopment in a general population. | Hum Mol Genet | 2023 |
| 37280359 | Three generation families: Analysis of de novo variants in autism. | Eur J Hum Genet | 2023 |
| 37234706 | Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data. | Front Pharmacol | 2023 |
| 37330697 | Contemplating syndromic autism. | Genet Med | 2023 |
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. | Am J Hum Genet | 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 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 36585449 | The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. | Nat Cancer | 2023 |
| 36440975 | ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. | Hum Mol Genet | 2023 |
| 36604605 | Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. | Mol Psychiatry | 2023 |
| 36635662 | Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons. | BMC Med Genomics | 2023 |
| 36167815 | Pharmacogenetic profiling via genome sequencing in children with medical complexity. | Pediatr Res | 2023 |
| 35979925 | CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. | Brain | 2023 |
| 34002022 | Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands. | Mol Psychiatry | 2022 |
| 36309498 | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. | Nat Commun | 2022 |
| 36368308 | Genomic architecture of autism from comprehensive whole-genome sequence annotation. | Cell | 2022 |
| 35643866 | Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia. | Leukemia | 2022 |
| 35501408 | Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. | Mol Psychiatry | 2022 |
| 35942939 | Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions. | Elife | 2022 |
| 36131047 | Rare copy number variation in posttraumatic stress disorder. | Mol Psychiatry | 2022 |
| 36068265 | Developmental implications of genetic testing for physical indications. | Eur J Hum Genet | 2022 |