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Joshua L. Deignan, Ph.D. - Publications

Affiliations: 
2007 University of California, Los Angeles, Los Angeles, CA 
Area:
Pathology, Genetics
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46 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Deignan JL, Gregg AR, Grody WW, Guo MH, Kearney H, Monaghan KG, Raraigh KS, Taylor J, Zepeda-Mendoza CJ, Ziats C. 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. PMID 37310422 DOI: 10.1016/j.gim.2023.100867  0.485
2021 Ji J, Leung ML, Baker S, Deignan JL, Santani A. Clinical Exome Reanalysis: Current Practice and Beyond. Molecular Diagnosis & Therapy. PMID 34283395 DOI: 10.1007/s40291-021-00541-7  0.305
2020 Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, ... ... Deignan JL, et al. 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. PMID 32573057 DOI: 10.1002/Ajmg.A.61641  0.331
2020 Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S. 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. PMID 32404922 DOI: 10.1038/S41436-020-0822-5  0.588
2020 Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S. 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. PMID 32404921 DOI: 10.1038/S41436-020-0821-6  0.39
2019 Eno CC, Barton SK, Dorrani N, Cederbaum SD, Deignan JL, Grody WW. Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Molecular Genetics & Genomic Medicine. e1026. PMID 31701651 DOI: 10.1002/Mgg3.1026  0.552
2019 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, et al. A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders. Human Mutation. PMID 31692161 DOI: 10.1002/Humu.23946  0.617
2019 Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Deignan JL, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022  0.342
2019 Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC. 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. PMID 31015575 DOI: 10.1038/S41436-019-0478-1  0.358
2018 David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. 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. PMID 30578420 DOI: 10.1038/S41436-018-0391-Z  0.364
2018 Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, et al. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Human Mutation. 39: 1641-1649. PMID 30311378 DOI: 10.1002/Humu.23643  0.386
2018 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. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. American Journal of Medical Genetics. Part A. PMID 30244526 DOI: 10.1002/Ajmg.A.40533  0.586
2018 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, ... ... Deignan JL, et al. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30214068 DOI: 10.1038/S41436-018-0265-4  0.407
2018 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, et al. OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. The Journal of Molecular Diagnostics : Jmd. PMID 30138724 DOI: 10.1016/J.Jmoldx.2018.06.009  0.355
2017 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, et al. 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. PMID 28933790 DOI: 10.1038/Gim.2017.146  0.514
2016 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, et al. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27811861 DOI: 10.1038/Gim.2016.152  0.391
2016 Bie AS, Fernandez-Guerra P, Birkler RI, Nisemblat S, Pelnena D, Lu X, Deignan JL, Lee H, Dorrani N, Corydon TJ, Palmfeldt J, Bivina L, Azem A, Herman K, Bross P. Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder. Frontiers in Molecular Biosciences. 3: 65. PMID 27774450 DOI: 10.3389/Fmolb.2016.00065  0.336
2016 Taché V, Bivina L, White S, Gregg J, Deignan J, Boyadjievd SA, Poulain FR. Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. Case Reports in Obstetrics and Gynecology. 2016: 6520148. PMID 27247813 DOI: 10.1155/2016/6520148  0.388
2016 Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clinical Chemistry. PMID 26861553 DOI: 10.1373/Clinchem.2015.247874  0.478
2016 Deignan JL, Grody WW. Molecular Diagnosis of Cystic Fibrosis. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 88: Unit 9.28. PMID 26724724 DOI: 10.1002/0471142905.Hg0928S88  0.59
2015 Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. European Journal of Medical Genetics. PMID 26721324 DOI: 10.1016/J.Ejmg.2015.12.006  0.361
2015 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, et al. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes, Chromosomes & Cancer. PMID 26542077 DOI: 10.1002/Gcc.22319  0.554
2015 Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Annals of the New York Academy of Sciences. PMID 26250888 DOI: 10.1111/Nyas.12850  0.466
2015 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, ... ... Deignan JL, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg. PMID 25944381 DOI: 10.1038/Ejhg.2015.71  0.531
2015 Cherukuri DP, Deignan JL, Das K, Grody WW, Herschman H. 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. PMID 25817443 DOI: 10.1016/J.Molonc.2015.01.009  0.512
2015 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, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. American Journal of Human Genetics. 96: 498-506. PMID 25728775 DOI: 10.1016/J.Ajhg.2015.01.017  0.54
2015 Kapp JR, Diss T, Spicer J, Gandy M, Schrijver I, Jennings LJ, Li MM, Tsongalis GJ, de Castro DG, Bridge JA, Wallace A, Deignan JL, Hing S, Butler R, Verghese E, et al. Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial. Journal of Clinical Pathology. 68: 111-8. PMID 25430497 DOI: 10.1136/Jclinpath-2014-202644  0.326
2014 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, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama. 312: 1880-7. PMID 25326637 DOI: 10.1001/Jama.2014.14604  0.621
2014 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. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. Jama Neurology. 71: 1237-46. PMID 25133958 DOI: 10.1001/Jamaneurol.2014.1944  0.618
2014 Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. Bmc Medical Genetics. 15: 49. PMID 24886118 DOI: 10.1186/1471-2350-15-49  0.585
2014 Taylor S, Bennett KM, Deignan JL, Hendrix EC, Orton SM, Verma S, Schutzbank TE. Molecular pathology curriculum for medical laboratory scientists: A report of the association for molecular pathology training and education committee. The Journal of Molecular Diagnostics : Jmd. 16: 288-96. PMID 24745724 DOI: 10.1016/J.Jmoldx.2014.02.003  0.315
2014 Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 510-5. PMID 24406459 DOI: 10.1038/Gim.2013.183  0.606
2013 Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 733-47. PMID 23887774 DOI: 10.1038/Gim.2013.92  0.398
2013 Palmer CG, Boudreault P, Baldwin EE, Fox M, Deignan JL, Kobayashi Y, Sininger Y, Grody W, Sinsheimer JS. Deaf genetic testing and psychological well-being in deaf adults. Journal of Genetic Counseling. 22: 492-507. PMID 23430402 DOI: 10.1007/S10897-013-9573-7  0.544
2013 Ong FS, Vakil H, Xue Y, Kuo JZ, Shah KH, Lee RB, Bernstein KE, Rimoin DL, Getzug T, Das K, Deignan JL, Rotter JI, Grody WW. The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. Clinical Genetics. 84: 55-9. PMID 23038988 DOI: 10.1111/Cge.12029  0.578
2013 Grody WW, Deignan JL. Diagnostic Molecular Genetics Emery and Rimoin's Principles and Practice of Medical Genetics. 1-31. DOI: 10.1016/B978-0-12-383834-6.00030-6  0.503
2012 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. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Molecular Genetics and Metabolism. 106: 55-61. PMID 22424739 DOI: 10.1016/J.Ymgme.2012.02.007  0.383
2012 Ong FS, Deignan JL, Kuo JZ, Bernstein KE, Rotter JI, Grody WW, Das K. Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation. Pharmacogenomics. 13: 465-75. PMID 22380001 DOI: 10.2217/Pgs.12.2  0.518
2011 Ong FS, Grody WW, Deignan JL. Privacy and data management in the era of massively parallel next-generation sequencing. Expert Review of Molecular Diagnostics. 11: 457-9. PMID 21707452 DOI: 10.1586/Erm.11.34  0.594
2011 Deignan JL, Grody WW. Ordering genetic tests and interpreting the results. Advances in Oto-Rhino-Laryngology. 70: 18-24. PMID 21358180 DOI: 10.1159/000322466  0.601
2010 Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD. 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. Molecular Genetics and Metabolism. 101: 413-6. PMID 20817516 DOI: 10.1016/J.Ymgme.2010.08.008  0.574
2010 Yang X, Peterson L, Thieringer R, Deignan JL, Wang X, Zhu J, Wang S, Zhong H, Stepaniants S, Beaulaurier J, Wang IM, Rosa R, Cumiskey AM, Luo JM, Luo Q, et al. Identification and validation of genes affecting aortic lesions in mice. The Journal of Clinical Investigation. 120: 2414-22. PMID 20577049 DOI: 10.1172/Jci42742  0.317
2008 Deignan JL, Marescau B, Livesay JC, Iyer RK, De Deyn PP, Cederbaum SD, Grody WW. Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. Molecular Genetics and Metabolism. 93: 172-8. PMID 17997338 DOI: 10.1016/J.Ymgme.2007.09.016  0.511
2008 Deignan JL, Cederbaum SD, Grody WW. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Molecular Genetics and Metabolism. 93: 7-14. PMID 17933574 DOI: 10.1016/J.Ymgme.2007.08.123  0.543
2007 Deignan JL, Livesay JC, Shantz LM, Pegg AE, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Polyamine homeostasis in arginase knockout mice. American Journal of Physiology. Cell Physiology. 293: C1296-301. PMID 17686999 DOI: 10.1152/Ajpcell.00393.2006  0.475
2006 Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Ornithine deficiency in the arginase double knockout mouse. Molecular Genetics and Metabolism. 89: 87-96. PMID 16753325 DOI: 10.1016/J.Ymgme.2006.04.007  0.511
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