| 37179546 | Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease. | | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 35077597 | Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. | Hum Mutat | 2022 |
| 36228617 | Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. | Dev Cell | 2022 |
| 35642566 | Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome. | American Journal of Medical Genetics, Part A | 2022 |
| 34321323 | O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. | J Med Genet | 2022 |
| 35294868 | Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. | Cell Rep | 2022 |
| 34400773 | Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. | Journal of Human Genetics | 2022 |
| 35266241 | seqr: A web-based analysis and collaboration tool for rare disease genomics. | Hum Mutat | 2022 |
| 34906470 | The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Genetics in Medicine | 2022 |
| 35179230 | PIGN encephalopathy: Characterizing the epileptology. | Epilepsia | 2022 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33861953 | A form of muscular dystrophy associated with pathogenic variants in JAG2. | Am J Hum Genet | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33473207 | Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. | Genet Med | 2021 |
| 34113008 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. | Genet Med | 2021 |
| 33894126 | Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. | Am J Hum Genet | 2021 |
| 34108472 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Nat Commun | 2021 |
| 34087166 | A form of muscular dystrophy associated with pathogenic variants in JAG2. | Am J Hum Genet | 2021 |
| 33649541 | Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. | Eur J Hum Genet | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 33037779 | Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. | Am J Med Genet A | 2021 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 32331917 | Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. | Neuromuscul Disord | 2020 |
| 31361404 | Phenotype delineation of ZNF462 related syndrome. | Am J Med Genet A | 2019 |
| 31397880 | MAGEL2-related disorders: A study and case series. | Clinical Genetics | 2019 |
| 26276630 | Clinical Sequencing Uncovers Origins and Evolution of Lassa Virus. | Cell | 2015 |
| 25403361 | Enhanced methods for unbiased deep sequencing of Lassa and Ebola RNA viruses from clinical and biological samples. | Genome Biol | 2014 |