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| 35675510 | Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | Brain | 2022 |
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| 33783954 | Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. | Am J Med Genet A | 2021 |
| 33268356 | Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients. | Sci Adv | 2020 |
| 31628766 | Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. | Clin Genet | 2020 |
| 31834374 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. | Brain | 2020 |
| 31872981 | When moments matter: Finding answers with rapid exome sequencing. | Molecular genetics & genomic medicine | 2020 |
| 32483341 | A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. | Eur J Hum Genet | 2020 |
| 32573057 | Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. | Am J Med Genet A | 2020 |
| 30664714 | Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. | Eur J Hum Genet | 2019 |
| 30478137 | Biallelic disruption of is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. | Journal of Medical Genetics | 2019 |
| 31303265 | De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. | Am J Hum Genet | 2019 |
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| 30973865 | Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS Biol | 2019 |
| 30737342 | Clinical spectrum of <i>STX1B</i>-related epileptic disorders. | Neurology | 2019 |
| 31402090 | De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. | Am J Hum Genet | 2019 |
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