Year |
Citation |
Score |
2021 |
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, ... ... Mason CE, et al. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34916285 DOI: 10.1073/pnas.2106844118 |
0.304 |
|
2021 |
Danko D, Bezdan D, Afshin EE, Ahsanuddin S, Bhattacharya C, Butler DJ, Chng KR, Donnellan D, Hecht J, Jackson K, Kuchin K, Karasikov M, Lyons A, Mak L, Meleshko D, ... ... Mason CE, et al. A global metagenomic map of urban microbiomes and antimicrobial resistance. Cell. PMID 34043940 DOI: 10.1016/j.cell.2021.05.002 |
0.679 |
|
2019 |
Zhang X, Alexander N, Leonardi I, Mason C, Kirkman LA, Deitsch KW. Rapid antigen diversification through mitotic recombination in the human malaria parasite Plasmodium falciparum. Plos Biology. 17: e3000271. PMID 31083650 DOI: 10.1371/Journal.Pbio.3000271 |
0.355 |
|
2017 |
Chung S, Vijay P, Klimek V, Mason C, Park C. An Analysis of the Transcriptional Response of Myelodysplastic Syndrome Stem Cells to Therapy at Single-Cell Resolution Leukemia Research. 55: S6-S7. DOI: 10.1182/Blood.V128.22.960.960 |
0.315 |
|
2015 |
Shih AH, Jiang Y, Meydan C, Shank K, Pandey S, Barreyro L, Antony-Debre I, Viale A, Socci N, Sun Y, Robertson A, Cavatore M, de Stanchina E, Hricik T, Rapaport F, ... ... Mason C, et al. Mutational cooperativity linked to combinatorial epigenetic gain of function in acute myeloid leukemia. Cancer Cell. 27: 502-15. PMID 25873173 DOI: 10.1016/J.Ccell.2015.03.009 |
0.326 |
|
2015 |
Chung SS, Vijay P, Stern DL, O'Sullivan D, Klimek VM, Mason C, Park CY. Analysis of Myelodysplastic Syndrome Stem Cells at Single Cell Resolution during DNA Methyltransferase Inhibitor Therapy Blood. 126: 4101-4101. DOI: 10.1182/Blood.V126.23.4101.4101 |
0.348 |
|
2015 |
Garrett-Bakelman FE, Li S, Chung SS, Hricik T, Franck R, Patel J, Dillon R, Vijay P, Brown AL, Perl AE, Cannon BJ, Sanders MA, Valk PJM, Bullinger L, Luger S, ... ... Mason C, et al. Divergent Dynamics of Epigenetic and Genetic Heterogeneity in Relapsed Acute Myeloid Leukemia Blood. 126: 306-306. DOI: 10.1182/Blood.V126.23.306.306 |
0.399 |
|
2012 |
Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 529-36. PMID 22592906 DOI: 10.1002/Ajmg.B.32059 |
0.696 |
|
2012 |
Weiss J, Hurley LA, Harris RM, Finlayson C, Tong M, Fisher LA, Moran JL, Beier DR, Mason C, Jameson JL. ENU mutagenesis in mice identifies candidate genes for hypogonadism. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 23: 346-55. PMID 22258617 DOI: 10.1007/S00335-011-9388-5 |
0.393 |
|
2012 |
Meyer J, Wang J, Hogan LE, Patel J, Tang Z, Zumbo P, Li S, Zavadil J, Levine RL, Cardozo T, Hunger S, Raetz EA, Morrison DJ, Mason C, Carroll WL. Relapse-specific mutations in cytosolic 5’-nucleotidase II in childhood acute lymphoblastic leukemia. Journal of Clinical Oncology. 30: 9507-9507. DOI: 10.1200/Jco.2012.30.15_Suppl.9507 |
0.346 |
|
2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.687 |
|
2010 |
Mason CE, Zumbo P, Sanders S, Folk M, Robinson D, Aydt R, Gollery M, Welsh M, Olson NE, Smith TM. Standardizing the next generation of bioinformatics software development with BioHDF (HDF5). Advances in Experimental Medicine and Biology. 680: 693-700. PMID 20865556 DOI: 10.1007/978-1-4419-5913-3_77 |
0.494 |
|
2010 |
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/Nejmoa0907006 |
0.679 |
|
2010 |
Hogan LE, Mason C, Meyer J, Wang J, Tang Z, Brown S, Morrison DJ, Hunger S, Raetz EA, Carroll WL. High throughput transcriptome sequencing of pediatric relapsed acute lymphoblastic leukemia (ALL). Journal of Clinical Oncology. 28: 9521-9521. DOI: 10.1200/Jco.2010.28.15_Suppl.9521 |
0.368 |
|
2010 |
Meyer JA, Hogan LE, Wang J, Yang JJ, Patel J, Levine RL, Hunger SP, Raetz E, Mason C, Carroll WL. High Throughput Transcriptome Sequencing of Pediatric Relapsed Acute Lymphoblastic Leukemia (ALL) Identifies Relapse Specific Mutations and Expression Blood. 116: 3233-3233. DOI: 10.1182/Blood.V116.21.3233.3233 |
0.395 |
|
2009 |
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal of Medical Genetics. Part A. 149: 2569-72. PMID 19876906 DOI: 10.1002/Ajmg.A.33063 |
0.604 |
|
2009 |
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 16: 1610-4. PMID 19793656 DOI: 10.1016/J.Jocn.2009.03.022 |
0.632 |
|
2009 |
Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovi? D, Geschwind DH, Mane SM, State MW, Sestan N. Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron. 62: 494-509. PMID 19477152 DOI: 10.1016/J.Neuron.2009.03.027 |
0.526 |
|
2008 |
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics. 40: 1472-7. PMID 18997786 DOI: 10.1038/Ng.240 |
0.616 |
|
2008 |
Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, et al. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. American Journal of Medical Genetics. Part A. 146: 2746-52. PMID 18837054 DOI: 10.1002/Ajmg.A.32533 |
0.715 |
|
2008 |
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 9: 119-25. PMID 18322713 DOI: 10.1007/S10048-008-0121-9 |
0.617 |
|
2008 |
Shah PK, Tripathi LP, Jensen LJ, Gahnim M, Mason C, Furlong EE, Rodrigues V, White KP, Bork P, Sowdhamini R. Enhanced function annotations for Drosophila serine proteases: a case study for systematic annotation of multi-member gene families. Gene. 407: 199-215. PMID 17996400 DOI: 10.1016/J.Gene.2007.10.012 |
0.324 |
|
2007 |
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly: Laboratory investigation Journal of Neurosurgery. 107: 495-499. PMID 18154020 DOI: 10.3171/Ped-07/12/495 |
0.691 |
|
2007 |
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Human Mutation. 28: 1236-40. PMID 17676595 DOI: 10.1002/Humu.20592 |
0.66 |
|
2005 |
Deeb A, Mason C, Lee YS, Hughes IA. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clinical Endocrinology. 63: 56-62. PMID 15963062 DOI: 10.1111/J.1365-2265.2005.02298.X |
0.372 |
|
2004 |
Stolc V, Gauhar Z, Mason C, Halasz G, van Batenburg MF, Rifkin SA, Hua S, Herreman T, Tongprasit W, Barbano PE, Bussemaker HJ, White KP. A gene expression map for the euchromatic genome of Drosophila melanogaster. Science (New York, N.Y.). 306: 655-60. PMID 15499012 DOI: 10.1126/Science.1101312 |
0.338 |
|
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