 Connection
Emily Farrow to Exome
This is a "connection" page, showing publications Emily Farrow has written about Exome.
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Connection Strength |
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0.594 |
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Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 03; 6(265):265ra168.
Score: 0.129
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Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics. 2013 Sep; 102(3):148-56.
Score: 0.116
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Lansdon LA, Cadieux-Dion M, Herriges JC, Johnston J, Yoo B, Alaimo JT, Thiffault I, Miller N, Cohen ASA, Repnikova EA, Zhang L, Farooqi MS, Farrow EG, Saunders CJ. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. Clin Chem. 2022 09 01; 68(9):1177-1183.
Score: 0.055
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Rengasamy Venugopalan S, Farrow E, Sanchez-Lara PA, Yen S, Lypka M, Jiang S, Allareddy V. A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient. Orthod Craniofac Res. 2019 May; 22 Suppl 1:163-167.
Score: 0.044
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Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, B?dker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y, Rokas A, Teramo K, Christensen K, Williams SM, R?met M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ. Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth. PLoS Genet. 2018 07; 14(7):e1007394.
Score: 0.041
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Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. BMC Med Genet. 2017 11 02; 18(1):124.
Score: 0.040
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Rengasamy Venugopalan S, Farrow EG, Lypka M. Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. Orthod Craniofac Res. 2017 Jun; 20 Suppl 1:50-56.
Score: 0.038
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Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. Am J Med Genet A. 2016 06; 170(6):1585-9.
Score: 0.035
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Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet. 2015 May 07; 16:31.
Score: 0.033
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Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 05; 96(2):258-65.
Score: 0.033
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Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. BMC Med Genomics. 2013 Sep 17; 6:32.
Score: 0.030
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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