Joshua L Deignan

Title(s)HS Associate Clinical Professor, Pathology and Laboratory Medicine
SchoolMedicine
Address
vCardDownload vCard

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Apr 16. Chao EC, Astbury C, Deignan JL, Pronold M, Reddi HV, Weitzel JN, ACMG Laboratory Quality Assurance Committee . PMID: 33864022.
      View in: PubMed   Mentions:    Fields:    
    2. Addendum: Technical standards and guidelines for spinal muscular atrophy testing. Genet Med. 2020 Oct 13. Deignan JL, Astbury C, Behlmann A, Guha S, Monaghan KG, Reddi HV, Seifert BA, Tayeh M, Wakeling E, ACMG Laboratory Quality Assurance Committee . PMID: 33046848.
      View in: PubMed   Mentions:    Fields:    
    3. 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). Genet Med. 2020 08; 22(8):1285-1287. Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S, ACMG Laboratory Quality Assurance Committee . PMID: 32404921.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    4. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1288-1295. Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S, ACMG Laboratory Quality Assurance Committee . PMID: 32404922.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. PMID: 31692161.
      View in: PubMed   Mentions: 10     Fields:    
    6. Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Mol Genet Genomic Med. 2020 01; 8(1):e1026. Eno CC, Barton SK, Dorrani N, Cederbaum SD, Deignan JL, Grody WW. PMID: 31701651.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 06; 21(6):1267-1270. Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC, ACMG Laboratory Quality Assurance Committee . PMID: 31015575.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    8. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. David KL, Best RG, Brenman LM, Bush L, Deignan J, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. PMID: 30971833.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 04; 21(4):769-771. David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE, ACMG Social Ethical Legal Issues Committee . PMID: 30578420.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    10. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. . 2018 12; 176(12):2829-2834. Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. PMID: 30244526.
      View in: PubMed   Mentions:
    11. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genet Med. 2019 04; 21(4):861-866. Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. PMID: 30214068.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776. Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. PMID: 30138724.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    13. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. PMID: 28933790.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. PMID: 27811861.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    15. Molecular Diagnosis of Cystic Fibrosis. Curr Protoc Hum Genet. 2016 Jan 01; 88:9.28.1-9.28.6. Deignan JL, Grody WW. PMID: 26724724.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Eur J Med Genet. 2016 Feb; 59(2):70-4. Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. PMID: 26721324.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    17. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes Cancer. 2016 Feb; 55(2):131-42. Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. PMID: 26542077.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    18. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 02; 1366(1):49-60. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. PMID: 26250888.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    19. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 25944381.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    20. 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. Mol Oncol. 2015 Aug; 9(7):1252-8. Cherukuri DP, Deignan JL, Das K, Grody WW, Herschman H. PMID: 25817443.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    21. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, UCLA Clinical Genomics Center , Grody WW, Vilain E, Nelson SF. PMID: 25728775.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    22. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637.
      View in: PubMed   Mentions: 343     Fields:    Translation:Humans
    23. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. PMID: 25133958.
      View in: PubMed   Mentions: 87     Fields:    Translation:Humans
    24. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jul; 16(7):510-5. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. PMID: 24406459.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    25. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Sep; 15(9):733-47. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E, Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance . PMID: 23887774.
      View in: PubMed   Mentions: 280     Fields:    Translation:Humans
    26. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61. Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansPHPublic Health
    27. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Mol Genet Metab. 2010 Dec; 101(4):413-6. Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD. PMID: 20817516.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    28. Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Mol Genet Metab. 2010; 100 Suppl 1:S31-6. Deignan JL, De Deyn PP, Cederbaum SD, Fuchshuber A, Roth B, Gsell W, Marescau B. PMID: 20176499.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    29. Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. Nat Genet. 2009 Apr; 41(4):415-23. Yang X, Deignan JL, Qi H, Zhu J, Qian S, Zhong J, Torosyan G, Majid S, Falkard B, Kleinhanz RR, Karlsson J, Castellani LW, Mumick S, Wang K, Xie T, Coon M, Zhang C, Estrada-Smith D, Farber CR, Wang SS, van Nas A, Ghazalpour A, Zhang B, Macneil DJ, Lamb JR, Dipple KM, Reitman ML, Mehrabian M, Lum PY, Schadt EE, Lusis AJ, Drake TA. PMID: 19270708.
      View in: PubMed   Mentions: 145     Fields:    Translation:HumansAnimalsCells
    30. Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. Mol Genet Metab. 2008 Feb; 93(2):172-8. Deignan JL, Marescau B, Livesay JC, Iyer RK, De Deyn PP, Cederbaum SD, Grody WW. PMID: 17997338.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimals
    31. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab. 2008 Jan; 93(1):7-14. Deignan JL, Cederbaum SD, Grody WW. PMID: 17933574.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimals
    32. Polyamine homeostasis in arginase knockout mice. . 2007 Oct; 293(4):C1296-301. Deignan JL, Livesay JC, Shantz LM, Pegg AE, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. PMID: 17686999.
      View in: PubMed   Mentions:
    33. Ornithine deficiency in the arginase double knockout mouse. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):87-96. Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. PMID: 16753325.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    Joshua's Networks
    Concepts (177)
    Derived automatically from this person's publications.
    _
    Co-Authors (28)
    People in Profiles who have published with this person.
    _
    Similar People (60)
    People who share similar concepts with this person.
    _
    Same Department
    Search Department
    _