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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 08; 25(8):100867.
Deignan JL, Gregg AR, Grody WW, Guo MH, Kearney H, Monaghan KG, Raraigh KS, Taylor J, Zepeda-Mendoza CJ, Ziats C, ACMG Board of Directors. Electronic address: documents@acmg.net. PMID: 37310422.
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PubMed Mentions: Fields:
Translation:
Humans
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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 05; 25(5):100017.
Deignan JL, De Castro M, Horner VL, Johnston T, Macaya D, Maleszewski JJ, Reddi HV, Tayeh MK, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. PMID: 36799919.
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PubMed Mentions: Fields:
Translation:
Humans
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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100316.
Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. PMID: 36507974.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Moving toward more consistency in variant classification and clinical action. Genet Med. 2022 Nov 17.
David KL, Deignan JL. PMID: 36399133.
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PubMed Mentions: Fields:
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Clinical Exome Reanalysis: Current Practice and Beyond. Mol Diagn Ther. 2021 09; 25(5):529-536.
Ji J, Leung ML, Baker S, Deignan JL, Santani A. PMID: 34283395; PMCID: PMC8410709.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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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 07; 23(7):1179-1184.
Chao EC, Astbury C, Deignan JL, Pronold M, Reddi HV, Weitzel JN, ACMG Laboratory Quality Assurance Committee. PMID: 33864022.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Addendum: Technical standards and guidelines for spinal muscular atrophy testing. Genet Med. 2021 Dec; 23(12):2462.
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.
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PubMed Mentions: Fields:
Translation:
Humans
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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. Am J Med Genet A. 2020 08; 182(8):1906-1912.
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, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. PMID: 32573057.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Electric Field-Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva. J Mol Diagn. 2020 08; 22(8):1050-1062.
Tu M, Cheng J, Chen YL, Jea WC, Chen WL, Chen CJ, Ho CL, Huang WL, Lin CC, Su WC, Ye Q, Deignan J, Grody W, Li F, Chia D, Wei F, Liao W, Wong DTW, Strom CM. PMID: 32497715; PMCID: PMC7416077.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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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; PMCID: PMC8268680.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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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; PMCID: PMC7182470.
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PubMed Mentions:
35 Fields:
Translation:
HumansCells
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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; PMCID: PMC6978271.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 05 02; 104(5):815-834.
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, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. PMID: 31031012; PMCID: PMC6507050.
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PubMed Mentions:
30 Fields:
Translation:
HumansCells
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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; PMCID: PMC6559819.
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PubMed Mentions:
74 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype. Neurosci Lett. 2019 04 23; 699:195-198.
Parker J, Mozaffar T, Messmore A, Deignan JL, Kimonis VE, Ringman JM. PMID: 30716424; PMCID: PMC7759143.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
44 Fields:
Translation:
Humans
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018 11; 39(11):1641-1649.
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, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL, ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. PMID: 30311378; PMCID: PMC6188667.
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PubMed Mentions:
25 Fields:
Translation:
Humans
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Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. Am J Med Genet A. 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.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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; PMCID: PMC5415437.
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PubMed Mentions:
43 Fields:
Translation:
Humans
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Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder. Front Mol Biosci. 2016; 3:65.
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. PMID: 27774450; PMCID: PMC5053987.
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PubMed Mentions:
23
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Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. Case Rep Obstet Gynecol. 2016; 2016:6520148.
Taché V, Bivina L, White S, Gregg J, Deignan J, Boyadjievd SA, Poulain FR. PMID: 27247813; PMCID: PMC4877452.
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PubMed Mentions:
5
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Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 06; 62(6):799-806.
Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. PMID: 26861553.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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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; PMCID: PMC4744590.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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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; PMCID: PMC4613469.
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PubMed Mentions:
61 Fields:
Translation:
Humans
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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; PMCID: PMC4523444.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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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; PMCID: PMC4375619.
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PubMed Mentions:
62 Fields:
Translation:
HumansCells
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Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial. J Clin Pathol. 2015 Feb; 68(2):111-8.
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, Latham GJ, Hamoudi RA. PMID: 25430497; PMCID: PMC4316935.
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PubMed Mentions:
18 Fields:
Translation:
HumansCells
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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; PMCID: PMC4278636.
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PubMed Mentions:
465 Fields:
Translation:
Humans
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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; PMCID: PMC4324730.
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PubMed Mentions:
115 Fields:
Translation:
Humans
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De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014 May 01; 15:49.
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. PMID: 24886118; PMCID: PMC4072606.
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PubMed Mentions:
31 Fields:
Translation:
Humans
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Molecular pathology curriculum for medical laboratory scientists: A report of the association for molecular pathology training and education committee. J Mol Diagn. 2014 May; 16(3):288-96.
Taylor S, Bennett KM, Deignan JL, Hendrix EC, Orton SM, Verma S, Schutzbank TE. PMID: 24745724.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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; PMCID: PMC4079763.
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PubMed Mentions:
63 Fields:
Translation:
Humans
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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; PMCID: PMC4098820.
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PubMed Mentions:
347 Fields:
Translation:
Humans
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Deaf genetic testing and psychological well-being in deaf adults. J Genet Couns. 2013 Aug; 22(4):492-507.
Palmer CG, Boudreault P, Baldwin EE, Fox M, Deignan JL, Kobayashi Y, Sininger Y, Grody W, Sinsheimer JS. PMID: 23430402; PMCID: PMC3701749.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation. Pharmacogenomics. 2012 Mar; 13(4):465-75.
Ong FS, Deignan JL, Kuo JZ, Bernstein KE, Rotter JI, Grody WW, Das K. PMID: 22380001; PMCID: PMC3306231.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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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:
30 Fields:
Translation:
HumansPHPublic Health
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Privacy and data management in the era of massively parallel next-generation sequencing. Expert Rev Mol Diagn. 2011 Jun; 11(5):457-9.
Ong FS, Grody WW, Deignan JL. PMID: 21707452; PMCID: PMC3130532.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Ordering genetic tests and interpreting the results. Adv Otorhinolaryngol. 2011; 70:18-24.
Deignan JL, Grody WW. PMID: 21358180.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Identification and validation of genes affecting aortic lesions in mice. J Clin Invest. 2010 Jul; 120(7):2414-22.
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, Shah K, Xiao J, Nickle D, Plump A, Schadt EE, Lusis AJ, Lum PY. PMID: 20577049; PMCID: PMC2898611.
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PubMed Mentions:
25 Fields:
Translation:
HumansAnimals
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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.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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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; PMCID: PMC2837947.
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PubMed Mentions:
162 Fields:
Translation:
HumansAnimalsCells
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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:
21 Fields:
Translation:
HumansAnimals
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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; PMCID: PMC2692509.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimals
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Polyamine homeostasis in arginase knockout mice. Am J Physiol Cell Physiol. 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.
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PubMed Mentions:
9 Fields:
Translation:
Animals
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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:
28 Fields:
Translation:
AnimalsCells