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Page 1
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CD, et al. Among authors: harshman k. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Nat Genet. 2016. PMID: 27213289 Free article.
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CDM, et al. Among authors: harshman k. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. Nat Genet. 2017. PMID: 28546570 No abstract available.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: harshman k. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE. Nikolaev SI, et al. Among authors: harshman k. Nat Genet. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026. Nat Genet. 2011. PMID: 22197931
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafé L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Kiper POS, et al. Among authors: harshman k. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342. N Engl J Med. 2016. PMID: 27355534 Free PMC article.
Comparative genomic and phylogeographic analysis of Mycobacterium leprae.
Monot M, Honoré N, Garnier T, Zidane N, Sherafi D, Paniz-Mondolfi A, Matsuoka M, Taylor GM, Donoghue HD, Bouwman A, Mays S, Watson C, Lockwood D, Khamesipour A, Dowlati Y, Jianping S, Rea TH, Vera-Cabrera L, Stefani MM, Banu S, Macdonald M, Sapkota BR, Spencer JS, Thomas J, Harshman K, Singh P, Busso P, Gattiker A, Rougemont J, Brennan PJ, Cole ST. Monot M, et al. Among authors: harshman k. Nat Genet. 2009 Dec;41(12):1282-9. doi: 10.1038/ng.477. Epub 2009 Nov 1. Nat Genet. 2009. PMID: 19881526 Free article.
Gene expression across mammalian organ development.
Cardoso-Moreira M, Halbert J, Valloton D, Velten B, Chen C, Shao Y, Liechti A, Ascenção K, Rummel C, Ovchinnikova S, Mazin PV, Xenarios I, Harshman K, Mort M, Cooper DN, Sandi C, Soares MJ, Ferreira PG, Afonso S, Carneiro M, Turner JMA, VandeBerg JL, Fallahshahroudi A, Jensen P, Behr R, Lisgo S, Lindsay S, Khaitovich P, Huber W, Baker J, Anders S, Zhang YE, Kaessmann H. Cardoso-Moreira M, et al. Among authors: harshman k. Nature. 2019 Jul;571(7766):505-509. doi: 10.1038/s41586-019-1338-5. Epub 2019 Jun 26. Nature. 2019. PMID: 31243369 Free PMC article.
Context-dependent dual role of SKI8 homologs in mRNA synthesis and turnover.
Dorcey E, Rodriguez-Villalon A, Salinas P, Santuari L, Pradervand S, Harshman K, Hardtke CS. Dorcey E, et al. Among authors: harshman k. PLoS Genet. 2012;8(4):e1002652. doi: 10.1371/journal.pgen.1002652. Epub 2012 Apr 12. PLoS Genet. 2012. PMID: 22511887 Free PMC article.
Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights.
Bertelli C, Aeby S, Chassot B, Clulow J, Hilfiker O, Rappo S, Ritzmann S, Schumacher P, Terrettaz C, Benaglio P, Falquet L, Farinelli L, Gharib WH, Goesmann A, Harshman K, Linke B, Miyazaki R, Rivolta C, Robinson-Rechavi M, van der Meer JR, Greub G. Bertelli C, et al. Among authors: harshman k. Front Microbiol. 2015 Feb 19;6:101. doi: 10.3389/fmicb.2015.00101. eCollection 2015. Front Microbiol. 2015. PMID: 25745418 Free PMC article.
Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.
Miyazaki R, Bertelli C, Benaglio P, Canton J, De Coi N, Gharib WH, Gjoksi B, Goesmann A, Greub G, Harshman K, Linke B, Mikulic J, Mueller L, Nicolas D, Robinson-Rechavi M, Rivolta C, Roggo C, Roy S, Sentchilo V, Siebenthal AV, Falquet L, van der Meer JR. Miyazaki R, et al. Among authors: harshman k. Environ Microbiol. 2015 Jan;17(1):91-104. doi: 10.1111/1462-2920.12498. Epub 2014 May 28. Environ Microbiol. 2015. PMID: 24803113 Free article.
86 results