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Items: 1 to 50 of 56

1.

Whole-Genome Sequencing Identifies a Rice Grain Shape Mutant, gs9-1.

Jiang L, Li G, Chern M, Jain R, Pham NT, Martin JA, Schackwitz WS, Zhao J, Ruan D, Huang R, Zheng J, Ronald PC.

Rice (N Y). 2019 Jul 18;12(1):52. doi: 10.1186/s12284-019-0308-8.

2.

Mediation of plant-mycorrhizal interaction by a lectin receptor-like kinase.

Labbé J, Muchero W, Czarnecki O, Wang J, Wang X, Bryan AC, Zheng K, Yang Y, Xie M, Zhang J, Wang D, Meidl P, Wang H, Morrell-Falvey JL, Cope KR, Maia LGS, Ané JM, Mewalal R, Jawdy SS, Gunter LE, Schackwitz W, Martin J, Le Tacon F, Li T, Zhang Z, Ranjan P, Lindquist E, Yang X, Jacobson DA, Tschaplinski TJ, Barry K, Schmutz J, Chen JG, Tuskan GA.

Nat Plants. 2019 Jul;5(7):676-680. doi: 10.1038/s41477-019-0469-x. Epub 2019 Jul 8.

PMID:
31285560
3.

Experimental Evolution of Extreme Resistance to Ionizing Radiation in Escherichia coli after 50 Cycles of Selection.

Bruckbauer ST, Trimarco JD, Martin J, Bushnell B, Senn KA, Schackwitz W, Lipzen A, Blow M, Wood EA, Culberson WS, Pennacchio C, Cox MM.

J Bacteriol. 2019 Mar 26;201(8). pii: e00784-18. doi: 10.1128/JB.00784-18. Print 2019 Apr 15.

PMID:
30692176
4.

Corrigendum: Regulation of multiple carbon monoxide consumption pathways in anaerobic bacteria.

Techtmann SM, Colman AS, Murphy MB, Schackwitz WS, Goodwin LA, Robb FT.

Front Microbiol. 2018 Jul 5;9:1016. doi: 10.3389/fmicb.2018.01016. eCollection 2018.

5.

Genomic Sequence Variation Analysis by Resequencing.

Martin J, Schackwitz W, Lipzen A.

Methods Mol Biol. 2018;1775:229-239. doi: 10.1007/978-1-4939-7804-5_18.

PMID:
29876821
6.

Extensive gene content variation in the Brachypodium distachyon pan-genome correlates with population structure.

Gordon SP, Contreras-Moreira B, Woods DP, Des Marais DL, Burgess D, Shu S, Stritt C, Roulin AC, Schackwitz W, Tyler L, Martin J, Lipzen A, Dochy N, Phillips J, Barry K, Geuten K, Budak H, Juenger TE, Amasino R, Caicedo AL, Goodstein D, Davidson P, Mur LAJ, Figueroa M, Freeling M, Catalan P, Vogel JP.

Nat Commun. 2017 Dec 19;8(1):2184. doi: 10.1038/s41467-017-02292-8.

7.

Population genomics of picophytoplankton unveils novel chromosome hypervariability.

Blanc-Mathieu R, Krasovec M, Hebrard M, Yau S, Desgranges E, Martin J, Schackwitz W, Kuo A, Salin G, Donnadieu C, Desdevises Y, Sanchez-Ferandin S, Moreau H, Rivals E, Grigoriev IV, Grimsley N, Eyre-Walker A, Piganeau G.

Sci Adv. 2017 Jul 5;3(7):e1700239. doi: 10.1126/sciadv.1700239. eCollection 2017 Jul.

8.

The Sequences of 1504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies.

Li G, Jain R, Chern M, Pham NT, Martin JA, Wei T, Schackwitz WS, Lipzen AM, Duong PQ, Jones KC, Jiang L, Ruan D, Bauer D, Peng Y, Barry KW, Schmutz J, Ronald PC.

Plant Cell. 2017 Jun;29(6):1218-1231. doi: 10.1105/tpc.17.00154. Epub 2017 Jun 2.

9.

Expansion of Signal Transduction Pathways in Fungi by Extensive Genome Duplication.

Corrochano LM, Kuo A, Marcet-Houben M, Polaino S, Salamov A, Villalobos-Escobedo JM, Grimwood J, Álvarez MI, Avalos J, Bauer D, Benito EP, Benoit I, Burger G, Camino LP, Cánovas D, Cerdá-Olmedo E, Cheng JF, Domínguez A, Eliáš M, Eslava AP, Glaser F, Gutiérrez G, Heitman J, Henrissat B, Iturriaga EA, Lang BF, Lavín JL, Lee SC, Li W, Lindquist E, López-García S, Luque EM, Marcos AT, Martin J, McCluskey K, Medina HR, Miralles-Durán A, Miyazaki A, Muñoz-Torres E, Oguiza JA, Ohm RA, Olmedo M, Orejas M, Ortiz-Castellanos L, Pisabarro AG, Rodríguez-Romero J, Ruiz-Herrera J, Ruiz-Vázquez R, Sanz C, Schackwitz W, Shahriari M, Shelest E, Silva-Franco F, Soanes D, Syed K, Tagua VG, Talbot NJ, Thon MR, Tice H, de Vries RP, Wiebenga A, Yadav JS, Braun EL, Baker SE, Garre V, Schmutz J, Horwitz BA, Torres-Martínez S, Idnurm A, Herrera-Estrella A, Gabaldón T, Grigoriev IV.

Curr Biol. 2016 Jun 20;26(12):1577-1584. doi: 10.1016/j.cub.2016.04.038. Epub 2016 May 26.

10.

Genome-Wide Sequencing of 41 Rice (Oryza sativa L.) Mutated Lines Reveals Diverse Mutations Induced by Fast-Neutron Irradiation.

Li G, Chern M, Jain R, Martin JA, Schackwitz WS, Jiang L, Vega-Sánchez ME, Lipzen AM, Barry KW, Schmutz J, Ronald PC.

Mol Plant. 2016 Jul 6;9(7):1078-81. doi: 10.1016/j.molp.2016.03.009. Epub 2016 Mar 24. No abstract available.

11.

Genome-wide selective sweeps and gene-specific sweeps in natural bacterial populations.

Bendall ML, Stevens SL, Chan LK, Malfatti S, Schwientek P, Tremblay J, Schackwitz W, Martin J, Pati A, Bushnell B, Froula J, Kang D, Tringe SG, Bertilsson S, Moran MA, Shade A, Newton RJ, McMahon KD, Malmstrom RR.

ISME J. 2016 Jul;10(7):1589-601. doi: 10.1038/ismej.2015.241. Epub 2016 Jan 8.

12.

Expanding the Limits of Thermoacidophily in the Archaeon Sulfolobus solfataricus by Adaptive Evolution.

McCarthy S, Johnson T, Pavlik BJ, Payne S, Schackwitz W, Martin J, Lipzen A, Keffeler E, Blum P.

Appl Environ Microbiol. 2015 Nov 20;82(3):857-67. doi: 10.1128/AEM.03225-15. Print 2016 Feb 1.

13.

Complete Genome Sequences of Evolved Arsenate-Resistant Metallosphaera sedula Strains.

Ai C, McCarthy S, Schackwitz W, Martin J, Lipzen A, Blum P.

Genome Announc. 2015 Oct 1;3(5). pii: e01142-15. doi: 10.1128/genomeA.01142-15.

14.

Erratum to: Genome sequencing of the Trichoderma reesei QM9136 mutant identifies a truncation of the transcriptional regulator XYR1 as the cause for its cellulase-negative phenotype.

Lichius A, Bidard F, Buchholz F, Le Crom S, Martin J, Schackwitz W, Austerlitz T, Grigoriev IV, Baker SE, Margeot A, Seiboth B, Kubicek CP.

BMC Genomics. 2015 Sep 22;16(1):725. doi: 10.1186/s12864-015-1917-2. No abstract available.

15.

The molecular dimension of microbial species: 3. Comparative genomics of Synechococcus strains with different light responses and in situ diel transcription patterns of associated putative ecotypes in the Mushroom Spring microbial mat.

Olsen MT, Nowack S, Wood JM, Becraft ED, LaButti K, Lipzen A, Martin J, Schackwitz WS, Rusch DB, Cohan FM, Bryant DA, Ward DM.

Front Microbiol. 2015 Jun 23;6:604. doi: 10.3389/fmicb.2015.00604. eCollection 2015.

16.

Complete Genome Sequence of an Evolved Thermotoga maritima Isolate.

Singh R, Gradnigo J, White D, Lipzen A, Martin J, Schackwitz W, Moriyama E, Blum P.

Genome Announc. 2015 May 28;3(3). pii: e00557-15. doi: 10.1128/genomeA.00557-15.

17.

Complete Genome Sequence of Sulfolobus solfataricus Strain 98/2 and Evolved Derivatives.

McCarthy S, Gradnigo J, Johnson T, Payne S, Lipzen A, Martin J, Schackwitz W, Moriyama E, Blum P.

Genome Announc. 2015 May 28;3(3). pii: e00549-15. doi: 10.1128/genomeA.00549-15.

18.

Acute Limonene Toxicity in Escherichia coli Is Caused by Limonene Hydroperoxide and Alleviated by a Point Mutation in Alkyl Hydroperoxidase AhpC.

Chubukov V, Mingardon F, Schackwitz W, Baidoo EE, Alonso-Gutierrez J, Hu Q, Lee TS, Keasling JD, Mukhopadhyay A.

Appl Environ Microbiol. 2015 Jul;81(14):4690-6. doi: 10.1128/AEM.01102-15. Epub 2015 May 1.

19.

Genome sequencing of the Trichoderma reesei QM9136 mutant identifies a truncation of the transcriptional regulator XYR1 as the cause for its cellulase-negative phenotype.

Lichius A, Bidard F, Buchholz F, Le Crom S, Martin J, Schackwitz W, Austerlitz T, Grigoriev IV, Baker SE, Margeot A, Seiboth B, Kubicek CP.

BMC Genomics. 2015 Apr 20;16:326. doi: 10.1186/s12864-015-1526-0. Erratum in: BMC Genomics. 2015;16(1):725.

20.

Rapid selective sweep of pre-existing polymorphisms and slow fixation of new mutations in experimental evolution of Desulfovibrio vulgaris.

Zhou A, Hillesland KL, He Z, Schackwitz W, Tu Q, Zane GM, Ma Q, Qu Y, Stahl DA, Wall JD, Hazen TC, Fields MW, Arkin AP, Zhou J.

ISME J. 2015 Nov;9(11):2360-72. doi: 10.1038/ismej.2015.45. Epub 2015 Apr 7.

21.

Draft Genome Sequence of Neurospora crassa Strain FGSC 73.

Baker SE, Schackwitz W, Lipzen A, Martin J, Haridas S, LaButti K, Grigoriev IV, Simmons BA, McCluskey K.

Genome Announc. 2015 Apr 2;3(2). pii: e00074-15. doi: 10.1128/genomeA.00074-15.

22.

High-resolution genetic mapping of allelic variants associated with cell wall chemistry in Populus.

Muchero W, Guo J, DiFazio SP, Chen JG, Ranjan P, Slavov GT, Gunter LE, Jawdy S, Bryan AC, Sykes R, Ziebell A, Klápště J, Porth I, Skyba O, Unda F, El-Kassaby YA, Douglas CJ, Mansfield SD, Martin J, Schackwitz W, Evans LM, Czarnecki O, Tuskan GA.

BMC Genomics. 2015 Jan 23;16:24. doi: 10.1186/s12864-015-1215-z.

23.

An improved genome of the model marine alga Ostreococcus tauri unfolds by assessing Illumina de novo assemblies.

Blanc-Mathieu R, Verhelst B, Derelle E, Rombauts S, Bouget FY, Carré I, Château A, Eyre-Walker A, Grimsley N, Moreau H, Piégu B, Rivals E, Schackwitz W, Van de Peer Y, Piganeau G.

BMC Genomics. 2014 Dec 13;15:1103. doi: 10.1186/1471-2164-15-1103.

24.

Comparative genomics of Saccharomyces cerevisiae natural isolates for bioenergy production.

Wohlbach DJ, Rovinskiy N, Lewis JA, Sardi M, Schackwitz WS, Martin JA, Deshpande S, Daum CG, Lipzen A, Sato TK, Gasch AP.

Genome Biol Evol. 2014 Sep;6(9):2557-66.

25.

Enhancing Terpene yield from sugars via novel routes to 1-deoxy-d-xylulose 5-phosphate.

Kirby J, Nishimoto M, Chow RW, Baidoo EE, Wang G, Martin J, Schackwitz W, Chan R, Fortman JL, Keasling JD.

Appl Environ Microbiol. 2015 Jan;81(1):130-8. doi: 10.1128/AEM.02920-14. Epub 2014 Oct 17.

26.

Population genomics of Populus trichocarpa identifies signatures of selection and adaptive trait associations.

Evans LM, Slavov GT, Rodgers-Melnick E, Martin J, Ranjan P, Muchero W, Brunner AM, Schackwitz W, Gunter L, Chen JG, Tuskan GA, DiFazio SP.

Nat Genet. 2014 Oct;46(10):1089-96. doi: 10.1038/ng.3075. Epub 2014 Aug 24.

PMID:
25151358
27.

Genome diversity in Brachypodium distachyon: deep sequencing of highly diverse inbred lines.

Gordon SP, Priest H, Des Marais DL, Schackwitz W, Figueroa M, Martin J, Bragg JN, Tyler L, Lee CR, Bryant D, Wang W, Messing J, Manzaneda AJ, Barry K, Garvin DF, Budak H, Tuna M, Mitchell-Olds T, Pfender WF, Juenger TE, Mockler TC, Vogel JP.

Plant J. 2014 Aug;79(3):361-74. doi: 10.1111/tpj.12569. Epub 2014 Jul 15.

28.

Draft Genome Sequence of Enterobacter cloacae Strain JD6301.

Wilson JG, French WT, Lipzen A, Martin J, Schackwitz W, Woyke T, Shapiro N, Bullard JW, Champlin FR, Donaldson JR.

Genome Announc. 2014 May 29;2(3). pii: e00381-14. doi: 10.1128/genomeA.00381-14.

29.

Evolution of extreme resistance to ionizing radiation via genetic adaptation of DNA repair.

Byrne RT, Klingele AJ, Cabot EL, Schackwitz WS, Martin JA, Martin J, Wang Z, Wood EA, Pennacchio C, Pennacchio LA, Perna NT, Battista JR, Cox MM.

Elife. 2014 Mar 4;3:e01322. doi: 10.7554/eLife.01322.

30.

Population level analysis of evolved mutations underlying improvements in plant hemicellulose and cellulose fermentation by Clostridium phytofermentans.

Mukherjee S, Thompson LK, Godin S, Schackwitz W, Lipzen A, Martin J, Blanchard JL.

PLoS One. 2014 Jan 22;9(1):e86731. doi: 10.1371/journal.pone.0086731. eCollection 2014.

31.

Metagenomic sequencing of two salton sea microbiomes.

Hawley ER, Schackwitz W, Hess M.

Genome Announc. 2014 Jan 23;2(1). pii: e01208-13. doi: 10.1128/genomeA.01208-13.

32.

Comparative genome structure, secondary metabolite, and effector coding capacity across Cochliobolus pathogens.

Condon BJ, Leng Y, Wu D, Bushley KE, Ohm RA, Otillar R, Martin J, Schackwitz W, Grimwood J, MohdZainudin N, Xue C, Wang R, Manning VA, Dhillon B, Tu ZJ, Steffenson BJ, Salamov A, Sun H, Lowry S, LaButti K, Han J, Copeland A, Lindquist E, Barry K, Schmutz J, Baker SE, Ciuffetti LM, Grigoriev IV, Zhong S, Turgeon BG.

PLoS Genet. 2013;9(1):e1003233. doi: 10.1371/journal.pgen.1003233. Epub 2013 Jan 24.

33.

Comparative genomics of a plant-pathogenic fungus, Pyrenophora tritici-repentis, reveals transduplication and the impact of repeat elements on pathogenicity and population divergence.

Manning VA, Pandelova I, Dhillon B, Wilhelm LJ, Goodwin SB, Berlin AM, Figueroa M, Freitag M, Hane JK, Henrissat B, Holman WH, Kodira CD, Martin J, Oliver RP, Robbertse B, Schackwitz W, Schwartz DC, Spatafora JW, Turgeon BG, Yandava C, Young S, Zhou S, Zeng Q, Grigoriev IV, Ma LJ, Ciuffetti LM.

G3 (Bethesda). 2013 Jan;3(1):41-63. doi: 10.1534/g3.112.004044. Epub 2013 Jan 1.

34.

A 34K SNP genotyping array for Populus trichocarpa: design, application to the study of natural populations and transferability to other Populus species.

Geraldes A, Difazio SP, Slavov GT, Ranjan P, Muchero W, Hannemann J, Gunter LE, Wymore AM, Grassa CJ, Farzaneh N, Porth I, McKown AD, Skyba O, Li E, Fujita M, Klápště J, Martin J, Schackwitz W, Pennacchio C, Rokhsar D, Friedmann MC, Wasteneys GO, Guy RD, El-Kassaby YA, Mansfield SD, Cronk QC, Ehlting J, Douglas CJ, Tuskan GA.

Mol Ecol Resour. 2013 Mar;13(2):306-23. doi: 10.1111/1755-0998.12056. Epub 2013 Jan 11.

PMID:
23311503
35.

Revised sequence and annotation of the Rhodobacter sphaeroides 2.4.1 genome.

Kontur WS, Schackwitz WS, Ivanova N, Martin J, Labutti K, Deshpande S, Tice HN, Pennacchio C, Sodergren E, Weinstock GM, Noguera DR, Donohue TJ.

J Bacteriol. 2012 Dec;194(24):7016-7. doi: 10.1128/JB.01214-12.

36.

Genome resequencing reveals multiscale geographic structure and extensive linkage disequilibrium in the forest tree Populus trichocarpa.

Slavov GT, DiFazio SP, Martin J, Schackwitz W, Muchero W, Rodgers-Melnick E, Lipphardt MF, Pennacchio CP, Hellsten U, Pennacchio LA, Gunter LE, Ranjan P, Vining K, Pomraning KR, Wilhelm LJ, Pellegrini M, Mockler TC, Freitag M, Geraldes A, El-Kassaby YA, Mansfield SD, Cronk QC, Douglas CJ, Strauss SH, Rokhsar D, Tuskan GA.

New Phytol. 2012 Nov;196(3):713-25. doi: 10.1111/j.1469-8137.2012.04258.x. Epub 2012 Aug 3.

37.

Fine mapping of the Bsr1 barley stripe mosaic virus resistance gene in the model grass Brachypodium distachyon.

Cui Y, Lee MY, Huo N, Bragg J, Yan L, Yuan C, Li C, Holditch SJ, Xie J, Luo MC, Li D, Yu J, Martin J, Schackwitz W, Gu YQ, Vogel JP, Jackson AO, Liu Z, Garvin DF.

PLoS One. 2012;7(6):e38333. doi: 10.1371/journal.pone.0038333. Epub 2012 Jun 4.

38.

1001 Proteomes: a functional proteomics portal for the analysis of Arabidopsis thaliana accessions.

Joshi HJ, Christiansen KM, Fitz J, Cao J, Lipzen A, Martin J, Smith-Moritz AM, Pennacchio LA, Schackwitz WS, Weigel D, Heazlewood JL.

Bioinformatics. 2012 May 15;28(10):1303-6. doi: 10.1093/bioinformatics/bts133. Epub 2012 Mar 25.

PMID:
22451271
39.

Rediscovery by Whole Genome Sequencing: Classical Mutations and Genome Polymorphisms in Neurospora crassa.

McCluskey K, Wiest AE, Grigoriev IV, Lipzen A, Martin J, Schackwitz W, Baker SE.

G3 (Bethesda). 2011 Sep;1(4):303-16. doi: 10.1534/g3.111.000307. Epub 2011 Sep 1. Erratum in: G3 (Bethesda). 2013 Jan;3(1):143.

40.

Regulation of multiple carbon monoxide consumption pathways in anaerobic bacteria.

Techtmann SM, Colman AS, Murphy MB, Schackwitz WS, Goodwin LA, Robb FT.

Front Microbiol. 2011 Jul 11;2:147. doi: 10.3389/fmicb.2011.00147. eCollection 2011. Erratum in: Front Microbiol. 2018 Jul 05;9:1016.

41.

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH.

Am J Med Genet A. 2011 Aug;155A(8):1865-76. doi: 10.1002/ajmg.a.34081. Epub 2011 Jul 7.

42.

One bacterial cell, one complete genome.

Woyke T, Tighe D, Mavromatis K, Clum A, Copeland A, Schackwitz W, Lapidus A, Wu D, McCutcheon JP, McDonald BR, Moran NA, Bristow J, Cheng JF.

PLoS One. 2010 Apr 23;5(4):e10314. doi: 10.1371/journal.pone.0010314.

43.

Tracking the roots of cellulase hyperproduction by the fungus Trichoderma reesei using massively parallel DNA sequencing.

Le Crom S, Schackwitz W, Pennacchio L, Magnuson JK, Culley DE, Collett JR, Martin J, Druzhinina IS, Mathis H, Monot F, Seiboth B, Cherry B, Rey M, Berka R, Kubicek CP, Baker SE, Margeot A.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16151-6. doi: 10.1073/pnas.0905848106. Epub 2009 Sep 2.

44.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.

Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.

45.

Contrasting patterns of sequence evolution at the functionally redundant bric à brac paralogs in Drosophila melanogaster.

Bickel RD, Schackwitz WS, Pennacchio LA, Nuzhdin SV, Kopp A.

J Mol Evol. 2009 Aug;69(2):194-202. doi: 10.1007/s00239-009-9265-y. Epub 2009 Jul 29.

46.

Directed evolution of ionizing radiation resistance in Escherichia coli.

Harris DR, Pollock SV, Wood EA, Goiffon RJ, Klingele AJ, Cabot EL, Schackwitz W, Martin J, Eggington J, Durfee TJ, Middle CM, Norton JE, Popelars MC, Li H, Klugman SA, Hamilton LL, Bane LB, Pennacchio LA, Albert TJ, Perna NT, Cox MM, Battista JR.

J Bacteriol. 2009 Aug;191(16):5240-52. doi: 10.1128/JB.00502-09. Epub 2009 Jun 5.

47.

Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy.

Zhang Z, Alpert D, Francis R, Chatterjee B, Yu Q, Tansey T, Sabol SL, Cui C, Bai Y, Koriabine M, Yoshinaga Y, Cheng JF, Chen F, Martin J, Schackwitz W, Gunn TM, Kramer KL, De Jong PJ, Pennacchio LA, Lo CW.

Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3219-24. doi: 10.1073/pnas.0813400106. Epub 2009 Feb 13.

48.

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH.

Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9.

49.

Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.

Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME.

PLoS One. 2007 Sep 19;2(9):e903.

50.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD.

Nat Genet. 2007 Aug;39(8):1007-12. Epub 2007 Jul 1.

PMID:
17603483

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