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| 36181424 | Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. | Brain | 2023 |
| 37883914 | Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. | Mol Genet Metab | 2023 |
| 36965478 | Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. | Am J Hum Genet | 2023 |
| 36897941 | Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. | Sci Adv | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 37013900 | De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Genet Med | 2023 |
| 37448631 | Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. | Mol Genet Metab Rep | 2023 |
| 35144859 | PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. | Mol Genet Metab | 2022 |
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| 34412939 | Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Mol Genet Metab | 2021 |
| 33960148 | Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. | Mol Genet Genomic Med | 2021 |
| 33523931 | Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. | Sci Adv | 2021 |
| 34089226 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. | Am J Med Genet A | 2021 |
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| 33159716 | DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. | Mol Genet Genomic Med | 2020 |
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| 32814847 | Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. | Genet Med | 2020 |
| 32730690 | Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. | Mol Genet Genomic Med | 2020 |
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