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Offshore decommissioning horizon scan: Research priorities to support decision-making activities for oil and gas infrastructure.
Sci Total Environ. 2023 Jun 20;878:163015. doi: 10.1016/j.scitotenv.2023.163015. Epub 2023 Mar 24.
Sci Total Environ. 2023.
PMID: 36965737
Free article.
The practice of genomic medicine: A delineation of the process and its governing principles.
Handra J, Elbert A, Gazzaz N, Moller-Hansen A, Hyunh S, Lee HK, Boerkoel P, Alderman E, Anderson E, Clarke L, Hamilton S, Hamman R, Hughes S, Ip S, Langlois S, Lee M, Li L, Mackenzie F, Patel MS, Prentice LM, Sangha K, Sato L, Seath K, Seppelt M, Swenerton A, Warnock L, Zambonin JL, Boerkoel CF, Chin HL, Armstrong L.
Handra J, et al. Among authors: seath k.
Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022.
Front Med (Lausanne). 2023.
PMID: 36714130
Free PMC article.
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Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS.
Oliwa A, et al. Among authors: seath k.
Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1.
Am J Med Genet A. 2023.
PMID: 36317804
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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM.
Elliott AM, et al. Among authors: seath k.
HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35599849
Free PMC article.
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB.
Duncan AR, et al. Among authors: seath k.
Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28.
Am J Hum Genet. 2021.
PMID: 34186028
Free PMC article.
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Crizotinib response in a neuroblastoma patient with a constitutional mosaic anaplastic lymphoma kinase I1170N-activating mutation.
Harvey M, Irwin MS, Armstrong L, Seath K, Young S, Gershony S, Deyell RJ.
Harvey M, et al. Among authors: seath k.
Pediatr Blood Cancer. 2021 Jun;68(6):e28916. doi: 10.1002/pbc.28916. Epub 2021 Feb 1.
Pediatr Blood Cancer. 2021.
PMID: 33523537
No abstract available.
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PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications.
Saskin A, Seath K, Tihy F, Lemyre E, Davis J, Halal F, Armstrong L.
Saskin A, et al. Among authors: seath k.
Cancer Genet. 2019 Jun;235-236:28-30. doi: 10.1016/j.cancergen.2019.03.004. Epub 2019 Mar 26.
Cancer Genet. 2019.
PMID: 31072725
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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD.
Armstrong L, et al. Among authors: seath ki.
Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.
Am J Med Genet A. 2017.
PMID: 28211985
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