Joshua L. Deignan, Ph.D.

Affiliations: 
2007 University of California, Los Angeles, Los Angeles, CA 
Area:
Pathology, Genetics
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"Joshua Deignan"

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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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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
Mullegama SV, Klein SD, Nguyen DC, et al. (2017) Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genetics in Medicine : Official Journal of the American College of Medical Genetics
Baudhuin LM, Funke BH, Bean LH, et al. (2016) Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clinical Chemistry
Deignan JL, Grody WW. (2016) Molecular Diagnosis of Cystic Fibrosis. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 88: Unit 9.28
Babkina N, Deignan JL, Lee H, et al. (2015) Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. European Journal of Medical Genetics
Kansal R, Li X, Shen J, et al. (2015) An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes, Chromosomes & Cancer
Fogel BL, Lee H, Strom SP, et al. (2015) Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Annals of the New York Academy of Sciences
Ji J, Lee H, Argiropoulos B, et al. (2015) DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg
Cherukuri DP, Deignan JL, Das K, et al. (2015) Instability of a dinucleotide repeat in the 3'-untranslated region (UTR) of the microsomal prostaglandin E synthase-1 (mPGES-1) gene in microsatellite instability-high (MSI-H) colorectal carcinoma. Molecular Oncology
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