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Shinya Yamamoto

Baylor College of Medicine, Houston, TX 
Genetics, Drosophila, Rare and Undiagnosed Diseases, Neurological and Psychiatric Disorders, Developmental Biology
"Shinya Yamamoto"

Mean distance: 16.29 (cluster 11)
Cross-listing: FlyTree - BCM Tree

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Ravenscroft TA, Phillips JB, Fieg E, et al. (2021) Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Baldridge D, Wangler MF, Bowman AN, et al. (2021) Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet Journal of Rare Diseases. 16: 206
Luo X, Schoch K, Jangam SV, et al. (2021) Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features. Human Molecular Genetics
Harnish JM, Link N, Yamamoto S. (2021) as a Model for Infectious Diseases. International Journal of Molecular Sciences. 22
Barish S, Barakat TS, Michel BC, et al. (2020) BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal of Human Genetics
Dutta D, Briere LC, Kanca O, et al. (2020) De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics
Chung HL, Mao X, Wang H, et al. (2020) De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics
Mao D, Reuter CM, Ruzhnikov MRZ, et al. (2020) De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics
Chung HL, Wangler MF, Marcogliese PC, et al. (2020) Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron
Graves HK, Jangam S, Tan KL, et al. (2019) A Genetic Screen for Genes That Impact Peroxisomes in Identifies Candidate Genes for Human Disease. G3 (Bethesda, Md.)
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