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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 3
2002 2
2003 1
2004 3
2006 1
2007 1
2008 2
2009 1
2010 1
2011 1
2012 1
2013 6
2014 3
2015 6
2016 7
2017 3
2018 2
2020 1
2021 0
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Search Results

40 results
Results by year
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Page 1
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. Yu TW, et al. Among authors: markianos k. Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002. Neuron. 2013. PMID: 23352163 Free PMC article.
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. Finberg KE, et al. Among authors: markianos k. Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13. Nat Genet. 2008. PMID: 18408718 Free PMC article.
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. Chakraborty PK, et al. Among authors: markianos k. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
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. Ceyhan-Birsoy O, et al. Among authors: markianos k. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
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. Morrow EM, et al. Among authors: markianos k. Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Science. 2008. PMID: 18621663 Free PMC article.
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Schmitz-Abe K, et al. Among authors: markianos k. Sci Rep. 2020 Aug 20;10(1):14045. doi: 10.1038/s41598-020-70656-0. Sci Rep. 2020. PMID: 32820185 Free PMC article.
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. Cattivelli K, et al. Among authors: markianos k. Pediatr Blood Cancer. 2017 May;64(5):10.1002/pbc.26324. doi: 10.1002/pbc.26324. Epub 2016 Nov 3. Pediatr Blood Cancer. 2017. PMID: 27808451 Free PMC article.
Finding prostate cancer susceptibility genes.
Ostrander EA, Markianos K, Stanford JL. Ostrander EA, et al. Among authors: markianos k. Annu Rev Genomics Hum Genet. 2004;5:151-75. doi: 10.1146/annurev.genom.5.061903.180044. Annu Rev Genomics Hum Genet. 2004. PMID: 15485346 Review.
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. Heeney MM, et al. Among authors: markianos k. Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12. Blood. 2018. PMID: 29895660 Free PMC article. No abstract available.
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. Jamuar SS, et al. Among authors: markianos k. Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250456 Free PMC article.
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