Joshua L. Deignan, Ph.D.
Affiliations: | 2007 | University of California, Los Angeles, Los Angeles, CA |
Area:
Pathology, GeneticsGoogle:
"Joshua Deignan"Parents
Sign in to add mentor| Wayne W. Grody | grad student | 2007 | UCLA | |
| (Generation and characterization of the arginase double knockout mouse: New insights for the treatment of hyperargininemia.) | ||||
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Publications
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| Deignan JL, Gregg AR, Grody WW, et al. (2023) Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100867 |
| Ji J, Leung ML, Baker S, et al. (2021) Clinical Exome Reanalysis: Current Practice and Beyond. Molecular Diagnosis & Therapy |
| Schmidt JL, Pizzino A, Nicholl J, et al. (2020) Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. American Journal of Medical Genetics. Part A |
| Deignan JL, Astbury C, Cutting GR, et al. (2020) CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Deignan JL, Chao E, Gannon JL, et al. (2020) Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Eno CC, Barton SK, Dorrani N, et al. (2019) Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Molecular Genetics & Genomic Medicine. e1026 |
| Ngo KJ, Rexach JE, Lee H, et al. (2019) A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation |
| Bell S, Rousseau J, Peng H, et al. (2019) Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics |
| Deignan JL, Chung WK, Kearney HM, et al. (2019) Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| David KL, Best RG, Brenman LM, et al. (2018) Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics |