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| 32330417 | De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. | Am J Hum Genet | 2020 |
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| 29509758 | Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress. | PLoS Biol | 2018 |
| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
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| 28512187 | Neutral Competition for <i>Drosophila</i> Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. | Genetics | 2017 |
| 28874452 | Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. | Genetics | 2017 |
| 28742085 | Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | PLoS Genet | 2017 |
| 28017472 | Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. | Neuron | 2017 |
| 26812014 | WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. | Dev Cell | 2016 |
| 27764101 | Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. | PLoS Genet | 2016 |
| 27195754 | Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. | PLoS Genet | 2016 |
| 27343351 | Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. | Elife | 2016 |
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| 26406362 | Morgan's legacy: fruit flies and the functional annotation of conserved genes. | Cell | 2015 |
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