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| 36865175 | LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. | bioRxiv | 2023 |
| 37669106 | Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing. | OMICS | 2023 |
| 37805627 | Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas. | Nat Commun | 2023 |
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| 37043537 | Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. | Proc Natl Acad Sci U S A | 2023 |
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| 36538032 | Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. | Science | 2023 |
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| 35545661 | Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota. | Commun Biol | 2022 |
| 35794459 | Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene. | Sci Rep | 2022 |
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| 35141985 | Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | J Obstet Gynaecol Res | 2022 |
| 35338243 | Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. | J Hum Genet | 2022 |
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| 33912663 | Recessive <i>COL4A2</i> Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy. | Neurol Genet | 2021 |
| 33876771 | Integrated mutational landscape analysis of uterine leiomyosarcomas. | Proc Natl Acad Sci U S A | 2021 |
| 33622343 | Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma. | BMC Med Genomics | 2021 |
| 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | J Inherit Metab Dis | 2021 |
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| 34887573 | PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. | Nat Med | 2021 |
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| 34426522 | The genetic structure of the Turkish population reveals high levels of variation and admixture. | Proc Natl Acad Sci U S A | 2021 |
| 34480796 | Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 34413140 | X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. | Sci Immunol | 2021 |
| 34385670 | Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. | Genet Med | 2021 |
| 33970200 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 33968937 | Genetic Defects in <i>DNAH2</i> Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. | Front Cell Dev Biol | 2021 |
| 34345675 | Mutation in <i>ZDHHC15</i> Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. | Neurol Genet | 2021 |
| 34230938 | Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages. | medRxiv | 2021 |
| 33433624 | Neuroinvasion of SARS-CoV-2 in human and mouse brain. | J Exp Med | 2021 |
| 33432185 | Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 32538895 | Human CRY1 variants associate with attention deficit/hyperactivity disorder. | J Clin Invest | 2020 |
| 33077954 | Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. | Nat Med | 2020 |
| 33297360 | Mutations and Copy Number Alterations in <i>IDH</i> Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms. | Biomedicines | 2020 |
| 32972996 | Autoantibodies against type I IFNs in patients with life-threatening COVID-19. | Science | 2020 |
| 32935108 | Neuroinvasion of SARS-CoV-2 in human and mouse brain. | bioRxiv | 2020 |
| 32989326 | Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2020 |
| 30578106 | Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. | Neuron | 2019 |
| 31389005 | Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. | Clin Genet | 2019 |
| 31624127 | Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. | Proc Natl Acad Sci U S A | 2019 |
| 30952131 | Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas. | J Neurosurg | 2019 |
| 30849329 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | Am J Hum Genet | 2019 |
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