Hisama, Fuki M.

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 385

Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia

Chen, Y., Friedman, J. R., Chen, D., Chan, G. C. ‐., Bloss, C. S., Hisama, F. M., Topol, S. E., Carson, A. R., Pham, P. H., Bonkowski, E. S., et al. (2014) · Annals of Neurology

Neurological and metabolic disordersDeep Brain Stimulation and Movement Disorders

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Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth

Budel, S., Padukkavidana, T., Liu, B. P., Feng, Z., Hu, F., Johnson, S., Lauren, J., Park, J. H., McGee, A. W., Liao, J., et al. (2008) · The Journal of Neuroscience

Schizophrenia research and treatmentNeurotransmitter Receptor Influence on Behavior

Cited by 107

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, J., Picker, J., Zheng, Z., Zhang, X., Wang, J., Hisama, F., Brown, D. W., Mullen, M. P., Harris, D., Stoler, J., et al. (2014) · BMC Genomics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 93

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

On behalf of the Brotman Baty Institute Mutational Scanning Working Group, Gelman, H., Dines, J. N., Berg, J., Berger, A. H., Brnich, S., Hisama, F. M., James, R. G., Rubin, A. F., Shendure, J., et al. (2019) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 81

First, do no harm: direct-to-consumer genetic testing

Schleit, J., Naylor, L. V., & Hisama, F. M. (2019) · Genetics in Medicine

BRCA gene mutations in cancerBiomedical Ethics and Regulation

Cited by 28

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27