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Connection

Sara Sawyer to Mutation

This is a "connection" page, showing publications Sara Sawyer has written about Mutation.

 
Connection Strength
 
 
 
1.716
 
  1. Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E, Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL. H3.1 K36M mutation in a congenital-onset soft tissue neoplasm. Pediatr Blood Cancer. 2017 Dec; 64(12).
    View in: PubMed
    Score: 0.232
  2. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 2016 Mar; 89(3):275-84.
    View in: PubMed
    Score: 0.207
  3. Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M, Majewski J, Boycott KM, Screaton RA, Nicholson G. Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Hum Mol Genet. 2015 Sep 15; 24(18):5109-14.
    View in: PubMed
    Score: 0.204
  4. Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov. 2015 Feb; 5(2):135-42.
    View in: PubMed
    Score: 0.196
  5. Sawyer SL, Emerman M, Malik HS. Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G. PLoS Biol. 2004 Sep; 2(9):E275.
    View in: PubMed
    Score: 0.096
  6. El Demellawy D, Kovesi T, Gowans R, Oltean I, Huang L, White-Brown A, Sawyer SL. Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury. Pathology. 2024 02; 56(1):104-107.
    View in: PubMed
    Score: 0.090
  7. Warren CJ, Sawyer SL. How host genetics dictates successful viral zoonosis. PLoS Biol. 2019 04; 17(4):e3000217.
    View in: PubMed
    Score: 0.066
  8. Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL, Dyment DA, Boycott KM, Clericuzio CL. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. Clin Genet. 2018 10; 94(3-4):303-312.
    View in: PubMed
    Score: 0.063
  9. McDonell LM, Kernohan KD, Boycott KM, Sawyer SL. Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin. Hum Mol Genet. 2015 Oct 15; 24(R1):R60-6.
    View in: PubMed
    Score: 0.051
  10. Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C, Majewski J, Boycott KM, Graham G, Bromwich M. Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. Am J Med Genet A. 2015 Jun; 167(6):1337-41.
    View in: PubMed
    Score: 0.050
  11. Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet. 2015 Jul; 88(1):34-40.
    View in: PubMed
    Score: 0.048
  12. Lou DI, McBee RM, Le UQ, Stone AC, Wilkerson GK, Demogines AM, Sawyer SL. Rapid evolution of BRCA1 and BRCA2 in humans and other primates. BMC Evol Biol. 2014 Jul 11; 14:155.
    View in: PubMed
    Score: 0.048
  13. Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology. 2014 Mar 18; 82(11):945-55.
    View in: PubMed
    Score: 0.046
  14. Demogines A, Abraham J, Choe H, Farzan M, Sawyer SL. Dual host-virus arms races shape an essential housekeeping protein. PLoS Biol. 2013; 11(5):e1001571.
    View in: PubMed
    Score: 0.044
  15. Sawyer SL, Dicke F, Kirton A, Rajapkse T, Rebeyka IM, McInnes B, Parboosingh JS, Bernier FP. Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. Am J Med Genet A. 2013 May; 161A(5):1148-53.
    View in: PubMed
    Score: 0.044
  16. Thompson ER, Rowley SM, Sawyer S, Eccles DM, Trainer AH, Mitchell G, James PA, Campbell IG. Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. PLoS One. 2013; 8(1):e54772.
    View in: PubMed
    Score: 0.043
  17. Sawyer S, Mitchell G, McKinley J, Chenevix-Trench G, Beesley J, Chen XQ, Bowtell D, Trainer AH, Harris M, Lindeman GJ, James PA. A role for common genomic variants in the assessment of familial breast cancer. J Clin Oncol. 2012 Dec 10; 30(35):4330-6.
    View in: PubMed
    Score: 0.042
  18. Sawyer SL, Cheng IH, Chai W, Tye BK. Mcm10 and Cdc45 cooperate in origin activation in Saccharomyces cerevisiae. J Mol Biol. 2004 Jul 02; 340(2):195-202.
    View in: PubMed
    Score: 0.024
  19. Hou JY, Chapman JS, Kalashnikova E, Pierson W, Smith-McCune K, Pineda G, Vattakalam RM, Ross A, Mills M, Suarez CJ, Davis T, Edwards R, Boisen M, Sawyer S, Wu HT, Dashner S, Aushev VN, George GV, Malhotra M, Zimmermann B, Sethi H, ElNaggar AC, Aleshin A, Ford JM. Circulating tumor DNA monitoring for early recurrence detection in epithelial ovarian cancer. Gynecol Oncol. 2022 11; 167(2):334-341.
    View in: PubMed
    Score: 0.021
  20. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
    View in: PubMed
    Score: 0.018
  21. Nahabedian J, Sharma A, Kaczmarek ME, Wilkerson GK, Sawyer SL, Overbaugh J. Owl monkey CCR5 reveals synergism between CD4 and CCR5 in HIV-1 entry. Virology. 2017 12; 512:180-186.
    View in: PubMed
    Score: 0.015
  22. Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017 Aug 01; 140(8):2093-2103.
    View in: PubMed
    Score: 0.015
  23. Lu C, Jain SU, Hoelper D, Bechet D, Molden RC, Ran L, Murphy D, Venneti S, Hameed M, Pawel BR, Wunder JS, Dickson BC, Lundgren SM, Jani KS, De Jay N, Papillon-Cavanagh S, Andrulis IL, Sawyer SL, Grynspan D, Turcotte RE, Nadaf J, Fahiminiyah S, Muir TW, Majewski J, Thompson CB, Chi P, Garcia BA, Allis CD, Jabado N, Lewis PW. Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape. Science. 2016 May 13; 352(6287):844-9.
    View in: PubMed
    Score: 0.014
  24. James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 2015 Jun; 14(2):287-95.
    View in: PubMed
    Score: 0.013
  25. Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Identification of genes for childhood heritable diseases. Annu Rev Med. 2014; 65:19-31.
    View in: PubMed
    Score: 0.011
  26. Kaelber JT, Demogines A, Harbison CE, Allison AB, Goodman LB, Ortega AN, Sawyer SL, Parrish CR. Evolutionary reconstructions of the transferrin receptor of Caniforms supports canine parvovirus being a re-emerged and not a novel pathogen in dogs. PLoS Pathog. 2012; 8(5):e1002666.
    View in: PubMed
    Score: 0.010
  27. Homesley L, Lei M, Kawasaki Y, Sawyer S, Christensen T, Tye BK. Mcm10 and the MCM2-7 complex interact to initiate DNA synthesis and to release replication factors from origins. Genes Dev. 2000 Apr 15; 14(8):913-26.
    View in: PubMed
    Score: 0.004
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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