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Items: 39

1.

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA.

Blood. 2018 Sep 27;132(13):1399-1412. doi: 10.1182/blood-2017-08-802769. Epub 2018 Jun 13.

2.

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.

Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen RJ, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD.

Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12. No abstract available. Erratum in: Blood. 2018 Sep 20;132(12):1355.

PMID:
29895660
3.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.

Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27.

4.

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB.

JIMD Rep. 2017;35:7-15. doi: 10.1007/8904_2016_17. Epub 2016 Nov 18.

5.

Ringed sideroblasts in β-thalassemia.

Cattivelli K, Campagna DR, Schmitz-Abe K, Heeney MM, Yaish HM, Caruso Brown AE, Kearney S, Walkovich K, Markianos K, Fleming MD, Neufeld EJ.

Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26324. Epub 2016 Nov 3.

6.

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD.

Blood. 2016 Oct 13;128(15):1913-1917. Epub 2016 Aug 3.

7.

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB.

Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786.

8.

Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection.

Crawford JE, Riehle MM, Markianos K, Bischoff E, Guelbeogo WM, Gneme A, Sagnon N, Vernick KD, Nielsen R, Lazzaro BP.

Mol Ecol. 2016 Apr;25(7):1494-510. doi: 10.1111/mec.13572. Epub 2016 Mar 17.

9.

Genetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso.

Markianos K, Bischoff E, Mitri C, Guelbeogo WM, Gneme A, Eiglmeier K, Holm I, Sagnon N, Vernick KD, Riehle MM.

PLoS One. 2016 Jan 5;11(1):e0145308. doi: 10.1371/journal.pone.0145308. eCollection 2016.

10.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J.

JIMD Rep. 2016;28:49-57. Epub 2015 Nov 5.

11.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD.

Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21.

12.

Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae.

Redmond SN, Eiglmeier K, Mitri C, Markianos K, Guelbeogo WM, Gneme A, Isaacs AT, Coulibaly B, Brito-Fravallo E, Maslen G, Mead D, Niare O, Traore SF, Sagnon N, Kwiatkowski D, Riehle MM, Vernick KD.

BMC Genomics. 2015 Oct 13;16:779. doi: 10.1186/s12864-015-2009-z.

13.

The kdr-bearing haplotype and susceptibility to Plasmodium falciparum in Anopheles gambiae: genetic correlation and functional testing.

Mitri C, Markianos K, Guelbeogo WM, Bischoff E, Gneme A, Eiglmeier K, Holm I, Sagnon N, Vernick KD, Riehle MM.

Malar J. 2015 Oct 6;14:391. doi: 10.1186/s12936-015-0924-8.

14.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.

Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.

15.

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.

Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1.

16.

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH.

JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432.

17.

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD.

Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5.

18.

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB.

Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315. No abstract available.

19.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD.

Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Erratum in: Am J Hematol. 2014 Jun;89(6):670.

20.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH.

Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.

21.

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Bartnikas TB, Wildt SJ, Wineinger AE, Schmitz-Abe K, Markianos K, Cooper DM, Fleming MD.

Comp Med. 2013 Apr;63(2):143-55.

22.

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

23.

Comparative RNA editing in autistic and neurotypical cerebella.

Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM.

Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7.

24.

A cryptic subgroup of Anopheles gambiae is highly susceptible to human malaria parasites.

Riehle MM, Guelbeogo WM, Gneme A, Eiglmeier K, Holm I, Bischoff E, Garnier T, Snyder GM, Li X, Markianos K, Sagnon N, Vernick KD.

Science. 2011 Feb 4;331(6017):596-8. doi: 10.1126/science.1196759.

25.

Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset.

Paterson DS, Rivera KD, Broadbelt KG, Trachtenberg FL, Belliveau RA, Holm IA, Haas EA, Stanley C, Krous HF, Kinney HC, Markianos K.

Pediatr Res. 2010 Nov;68(5):409-13. doi: 10.1203/PDR.0b013e3181f2edf0.

26.

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH.

Pediatr Res. 2009 Dec;66(6):631-5. doi: 10.1203/PDR.0b013e3181bd5a31.

27.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.

Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Erratum in: Science. 2010 Dec 24;330(6012):1746.

28.

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD.

Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13.

29.

A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiae.

Riehle MM, Markianos K, Lambrechts L, Xia A, Sharakhov I, Koella JC, Vernick KD.

Malar J. 2007 Jul 6;6:87.

30.

Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region.

Riehle MM, Markianos K, Niaré O, Xu J, Li J, Touré AM, Podiougou B, Oduol F, Diawara S, Diallo M, Coulibaly B, Ouatara A, Kruglyak L, Traoré SF, Vernick KD.

Science. 2006 Apr 28;312(5773):577-9.

31.

Finding prostate cancer susceptibility genes.

Ostrander EA, Markianos K, Stanford JL.

Annu Rev Genomics Hum Genet. 2004;5:151-75. Review.

PMID:
15485346
32.

No bias in linkage analysis.

Abecasis G, Cox N, Daly MJ, Kruglyak L, Laird N, Markianos K, Patterson N.

Am J Hum Genet. 2004 Oct;75(4):722-3; author reply 723-7. No abstract available.

33.

Sequence-based linkage analysis.

Furman I, Rieder MJ, Da Ponte S, Carrington DP, Nickerson DA, Kruglyak L, Markianos K.

Am J Hum Genet. 2004 Oct;75(4):647-53. Epub 2004 Aug 25.

34.

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

Matise TC, Sachidanandam R, Clark AG, Kruglyak L, Wijsman E, Kakol J, Buyske S, Chui B, Cohen P, de Toma C, Ehm M, Glanowski S, He C, Heil J, Markianos K, McMullen I, Pericak-Vance MA, Silbergleit A, Stein L, Wagner M, Wilson AF, Winick JD, Winn-Deen ES, Yamashiro CT, Cann HM, Lai E, Holden AL.

Am J Hum Genet. 2003 Aug;73(2):271-84. Epub 2003 Jul 3.

35.

Genetic loci affecting resistance to human malaria parasites in a West African mosquito vector population.

Niaré O, Markianos K, Volz J, Oduol F, Touré A, Bagayoko M, Sangaré D, Traoré SF, Wang R, Blass C, Dolo G, Bouaré M, Kafatos FC, Kruglyak L, Touré YT, Vernick KD.

Science. 2002 Oct 4;298(5591):213-6.

36.

Lambda(0) polarization in 800-GeV/cpp --> p(f)(Lambda0K+).

Félix J, Berisso MC, Christian DC, Gara A, Gottschalk EE, Gutiérrez G, Hartouni EP, Knapp BC, Kreisler MN, Lee S, Markianos K, Moreno G, Reyes MA, Sosa M, Wang MH, Wehmann A, Wesson D.

Phys Rev Lett. 2002 Feb 11;88(6):061801. Epub 2002 Jan 24.

PMID:
11863796
37.

A joint analysis of asthma affection status and IgE levels in multiple data sets collected for asthma.

Markianos K, Carlson S, Gibbs M, Kruglyak L.

Genet Epidemiol. 2001;21 Suppl 1:S148-53.

PMID:
11793658
38.

Diffractively produced charm final states in 800-GeV/c pp collisions.

Wang MH, Berisso MC, Christian DC, Félix J, Gara A, Gottschalk E, Gutiérrez G, Hartouni EP, Knapp BC, Kreisler MN, Lee S, Markianos K, Moreno G, Reyes MA, Sosa M, Wehmann A, Wesson D.

Phys Rev Lett. 2001 Aug 20;87(8):082002. Epub 2001 Aug 7.

PMID:
11497936
39.

Efficient multipoint linkage analysis through reduction of inheritance space.

Markianos K, Daly MJ, Kruglyak L.

Am J Hum Genet. 2001 Apr;68(4):963-77. Epub 2001 Mar 14.

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