Year |
Citation |
Score |
2024 |
Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N. Massively parallel jumping assay decodes retrotransposition activity. Biorxiv : the Preprint Server For Biology. PMID 38659854 DOI: 10.1101/2024.04.16.589814 |
0.316 |
|
2024 |
Schubach M, Maass T, Nazaretyan L, Röner S, Kircher M. CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions. Nucleic Acids Research. 52: D1143-D1154. PMID 38183205 DOI: 10.1093/nar/gkad989 |
0.325 |
|
2023 |
Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N. Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types. Biorxiv : the Preprint Server For Biology. PMID 36945371 DOI: 10.1101/2023.03.05.531189 |
0.493 |
|
2023 |
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, et al. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. PMID 36755093 DOI: 10.1038/s41586-022-05682-1 |
0.303 |
|
2023 |
Whalen S, Inoue F, Ryu H, Fair T, Markenscoff-Papadimitriou E, Keough K, Kircher M, Martin B, Alvarado B, Elor O, Laboy Cintron D, Williams A, Hassan Samee MA, Thomas S, Krencik R, et al. Machine learning dissection of human accelerated regions in primate neurodevelopment. Neuron. PMID 36640767 DOI: 10.1016/j.neuron.2022.12.026 |
0.453 |
|
2022 |
Schubach M, Nazaretyan L, Kircher M. The Regulatory Mendelian Mutation score for GRCh38. Gigascience. 12. PMID 37083939 DOI: 10.1093/gigascience/giad024 |
0.34 |
|
2022 |
Kircher M, Ludwig KU. Systematic assays and resources for the functional annotation of non-coding variants. Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V. 34: 275-286. PMID 37034418 DOI: 10.1515/medgen-2022-2161 |
0.325 |
|
2022 |
Johnsen JM, Fletcher SN, Dove A, McCracken H, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska SE, Valentino LA, Pierce GF, Watson C, Cheng D, Recht M, Konkle BA. Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future Hemophilia Genotyping Initiative in the United States. Journal of Thrombosis and Haemostasis : Jth. PMID 35770352 DOI: 10.1111/jth.15805 |
0.461 |
|
2022 |
Spielmann M, Kircher M. Computational and experimental methods for classifying variants of unknown clinical significance. Cold Spring Harbor Molecular Case Studies. 8. PMID 35483875 DOI: 10.1101/mcs.a006196 |
0.353 |
|
2022 |
Kleinert P, Kircher M. A framework to score the effects of structural variants in health and disease. Genome Research. PMID 35197310 DOI: 10.1101/gr.275995.121 |
0.339 |
|
2021 |
Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Medicine. 13: 31. PMID 33618777 DOI: 10.1186/s13073-021-00835-9 |
0.509 |
|
2020 |
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, ... ... Kircher M, et al. Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 33128032 DOI: 10.1038/s41596-020-00422-z |
0.404 |
|
2020 |
Klein JC, Agarwal V, Inoue F, Keith A, Martin B, Kircher M, Ahituv N, Shendure J. A systematic evaluation of the design and context dependencies of massively parallel reporter assays. Nature Methods. PMID 33046894 DOI: 10.1038/s41592-020-0965-y |
0.441 |
|
2020 |
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulous-Soares I, Yosef N, Ye CJ, Pollard KS, ... ... Kircher M, et al. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 32641802 DOI: 10.1038/S41596-020-0333-5 |
0.522 |
|
2020 |
Kleinert P, Martin B, Kircher M. HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data. Plos Computational Biology. 16: e1007956. PMID 32497118 DOI: 10.1371/Journal.Pcbi.1007956 |
0.383 |
|
2019 |
Alexander J, Findlay GM, Kircher M, Shendure J. Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement. Bmc Biology. 17: 90. PMID 31739790 DOI: 10.1186/S12915-019-0711-Z |
0.541 |
|
2019 |
Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nature Communications. 10: 3583. PMID 31395865 DOI: 10.1038/S41467-019-11526-W |
0.56 |
|
2019 |
Shigaki D, Adato O, Adhikar AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DP, Schubach M, Xiong C, Yan Z, Boyle AP, ... ... Kircher M, et al. Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay. Human Mutation. PMID 31106481 DOI: 10.1002/Humu.23797 |
0.549 |
|
2019 |
Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH. Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation. Journal of Inherited Metabolic Disease. PMID 30945312 DOI: 10.1002/Jimd.12091 |
0.563 |
|
2018 |
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, ... ... Kircher M, et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics. PMID 30554721 DOI: 10.1016/J.Ajhg.2018.11.005 |
0.479 |
|
2018 |
Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. American Journal of Human Genetics. PMID 30414627 DOI: 10.1016/J.Ajhg.2018.10.010 |
0.338 |
|
2018 |
Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Research. PMID 30371827 DOI: 10.1093/Nar/Gky1016 |
0.581 |
|
2018 |
Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ, et al. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. Jimd Reports. PMID 30117111 DOI: 10.1007/8904_2018_128 |
0.482 |
|
2018 |
Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, et al. Multiplex assessment of protein variant abundance by massively parallel sequencing. Nature Genetics. PMID 29785012 DOI: 10.1038/S41588-018-0122-Z |
0.582 |
|
2018 |
Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. 28: 766.3. PMID 29717003 DOI: 10.1101/gr.237321.118 |
0.373 |
|
2018 |
Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, Kircher M, Ahituv N. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Human Mutation. PMID 29524275 DOI: 10.1002/Humu.23417 |
0.326 |
|
2017 |
Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Advances. 1: 824-834. PMID 29296726 DOI: 10.1182/Bloodadvances.2016002923 |
0.566 |
|
2017 |
Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, Ensslen M, Freeze HH. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. American Journal of Medical Genetics. Part A. PMID 28856833 DOI: 10.1002/Ajmg.A.38412 |
0.508 |
|
2017 |
Chang D, Knapp M, Enk J, Lippold S, Kircher M, Lister A, MacPhee RD, Widga C, Czechowski P, Sommer R, Hodges E, Stümpel N, Barnes I, Dalén L, Derevianko A, et al. The evolutionary and phylogeographic history of woolly mammoths: a comprehensive mitogenomic analysis. Scientific Reports. 7: 44585. PMID 28327635 DOI: 10.1038/Srep44585 |
0.341 |
|
2017 |
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JL, Freeze HH, et al. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. PMID 28216230 DOI: 10.1016/J.Mito.2017.02.004 |
0.535 |
|
2016 |
Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. PMID 27831498 DOI: 10.1101/Gr.212092.116 |
0.536 |
|
2016 |
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. Jci Insight. 1. PMID 27631024 DOI: 10.1172/Jci.Insight.87623 |
0.56 |
|
2016 |
Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics. Part A. PMID 27480077 DOI: 10.1002/Ajmg.A.37875 |
0.501 |
|
2016 |
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, ... ... Kircher M, et al. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Human Genetics. PMID 27023906 DOI: 10.1007/S00439-016-1660-Z |
0.579 |
|
2016 |
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/Humu.22983 |
0.545 |
|
2016 |
Kuhlwilm M, Gronau I, Hubisz MJ, de Filippo C, Prado-Martinez J, Kircher M, Fu Q, Burbano HA, Lalueza-Fox C, de la Rasilla M, Rosas A, Rudan P, Brajkovic D, Kucan Ž, Gušic I, et al. Ancient gene flow from early modern humans into Eastern Neanderthals. Nature. PMID 26886800 DOI: 10.1038/Nature16544 |
0.385 |
|
2016 |
Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. Cell. 164: 57-68. PMID 26771485 DOI: 10.1097/Tp.0000000000001176 |
0.634 |
|
2016 |
Johnsen J, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Meltzer L, Pierce GF, Aschman D, Konkle B. Novel Approach to and Results of Genetic Analysis of 3000 Hemophilia Patients Enrolled in the MyLifeOurFuture Initiative Blood. 128: 205-205. DOI: 10.1182/Blood.V128.22.205.205 |
0.552 |
|
2016 |
Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin Transplantation. 100: 698. DOI: 10.1097/TP.0000000000001176 |
0.437 |
|
2015 |
Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, ... Kircher M, et al. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633546 DOI: 10.1038/Gim.2015.147 |
0.517 |
|
2015 |
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation. PMID 26264460 DOI: 10.1002/Humu.22856 |
0.585 |
|
2015 |
Kircher M, Shendure J. Running spell-check to identify regulatory variants. Nature Genetics. 47: 853-5. PMID 26220134 DOI: 10.1038/Ng.3364 |
0.558 |
|
2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Kircher M, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.597 |
|
2015 |
Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Research. 25: 948-57. PMID 25917818 DOI: 10.1101/Gr.186882.114 |
0.601 |
|
2015 |
Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. American Journal of Medical Genetics. Part A. PMID 25898808 DOI: 10.1002/Ajmg.A.37115 |
0.38 |
|
2015 |
Hughes DA, Kircher M, He Z, Guo S, Fairbrother GL, Moreno CS, Khaitovich P, Stoneking M. Evaluating intra- and inter-individual variation in the human placental transcriptome. Genome Biology. 16: 54. PMID 25887593 DOI: 10.1186/S13059-015-0627-Z |
0.366 |
|
2015 |
Kircher M, Shendure J. Running spell-check to identify regulatory variants Nature Genetics. 47: 853-855. DOI: 10.1038/ng.3364 |
0.472 |
|
2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Kircher M, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009 |
0.458 |
|
2014 |
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/Nejmoa1314432 |
0.583 |
|
2014 |
Castellano S, Parra G, Sánchez-Quinto FA, Racimo F, Kuhlwilm M, Kircher M, Sawyer S, Fu Q, Heinze A, Nickel B, Dabney J, Siebauer M, White L, Burbano HA, Renaud G, et al. Patterns of coding variation in the complete exomes of three Neandertals. Proceedings of the National Academy of Sciences of the United States of America. 111: 6666-71. PMID 24753607 DOI: 10.1073/Pnas.1405138111 |
0.405 |
|
2014 |
Schubert M, Ermini L, Der Sarkissian C, Jónsson H, Ginolhac A, Schaefer R, Martin MD, Fernández R, Kircher M, McCue M, Willerslev E, Orlando L. Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX. Nature Protocols. 9: 1056-82. PMID 24722405 DOI: 10.1038/Nprot.2014.063 |
0.394 |
|
2014 |
Wunderlich S, Kircher M, Vieth B, Haase A, Merkert S, Beier J, Göhring G, Glage S, Schambach A, Curnow EC, Pääbo S, Martin U, Enard W. Primate iPS cells as tools for evolutionary analyses. Stem Cell Research. 12: 622-9. PMID 24631741 DOI: 10.1016/J.Scr.2014.02.001 |
0.315 |
|
2014 |
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, ... ... Kircher M, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine. 189: 707-17. PMID 24568568 DOI: 10.1164/Rccm.201311-2047Oc |
0.572 |
|
2014 |
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics. 46: 310-5. PMID 24487276 DOI: 10.1038/Ng.2892 |
0.717 |
|
2014 |
Heyn P, Kircher M, Dahl A, Kelso J, Tomancak P, Kalinka AT, Neugebauer KM. The earliest transcribed zygotic genes are short, newly evolved, and different across species. Cell Reports. 6: 285-92. PMID 24440719 DOI: 10.1016/J.Celrep.2013.12.030 |
0.341 |
|
2014 |
Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 505: 43-9. PMID 24352235 DOI: 10.1038/Nature12886 |
0.706 |
|
2014 |
Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Human Molecular Genetics. 23: 1602-5. PMID 24218363 DOI: 10.1093/Hmg/Ddt550 |
0.648 |
|
2013 |
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics. 92: 632-6. PMID 23561849 DOI: 10.1016/J.Ajhg.2013.03.012 |
0.663 |
|
2013 |
Renaud G, Kircher M, Stenzel U, Kelso J. freeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers. Bioinformatics (Oxford, England). 29: 1208-1209. PMID 23471300 DOI: 10.1093/Bioinformatics/Btt117 |
0.358 |
|
2013 |
Good JM, Wiebe V, Albert FW, Burbano HA, Kircher M, Green RE, Halbwax M, André C, Atencia R, Fischer A, Pääbo S. Comparative population genomics of the ejaculate in humans and the great apes. Molecular Biology and Evolution. 30: 964-76. PMID 23329688 DOI: 10.1093/Molbev/Mst005 |
0.379 |
|
2012 |
Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, et al. A high-coverage genome sequence from an archaic Denisovan individual. Science (New York, N.Y.). 338: 222-6. PMID 22936568 DOI: 10.1126/Science.1224344 |
0.715 |
|
2012 |
Fietz SA, Lachmann R, Brandl H, Kircher M, Samusik N, Schröder R, Lakshmanaperumal N, Henry I, Vogt J, Riehn A, Distler W, Nitsch R, Enard W, Pääbo S, Huttner WB. Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal. Proceedings of the National Academy of Sciences of the United States of America. 109: 11836-41. PMID 22753484 DOI: 10.1073/Pnas.1209647109 |
0.31 |
|
2012 |
Kircher M. Analysis of high-throughput ancient DNA sequencing data Methods in Molecular Biology. 840: 197-228. PMID 22237537 DOI: 10.1007/978-1-61779-516-9_23 |
0.38 |
|
2012 |
Kircher M, Sawyer S, Meyer M. Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform. Nucleic Acids Research. 40: e3. PMID 22021376 DOI: 10.1093/Nar/Gkr771 |
0.378 |
|
2012 |
Kircher M. Analysis of a high coverage genome of a Denisovan individual F1000research. 3. DOI: 10.7490/F1000Research.1092247.1 |
0.356 |
|
2011 |
Nagaraj N, Wisniewski JR, Geiger T, Cox J, Kircher M, Kelso J, Pääbo S, Mann M. Deep proteome and transcriptome mapping of a human cancer cell line. Molecular Systems Biology. 7: 548. PMID 22068331 DOI: 10.1038/Msb.2011.81 |
0.313 |
|
2011 |
Brawand D, Soumillon M, Necsulea A, Julien P, Csárdi G, Harrigan P, Weier M, Liechti A, Aximu-Petri A, Kircher M, Albert FW, Zeller U, Khaitovich P, Grützner F, Bergmann S, et al. The evolution of gene expression levels in mammalian organs. Nature. 478: 343-8. PMID 22012392 DOI: 10.1038/Nature10532 |
0.323 |
|
2011 |
Reich D, Patterson N, Kircher M, Delfin F, Nandineni MR, Pugach I, Ko AM, Ko YC, Jinam TA, Phipps ME, Saitou N, Wollstein A, Kayser M, Pääbo S, Stoneking M. Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. American Journal of Human Genetics. 89: 516-28. PMID 21944045 DOI: 10.1016/J.Ajhg.2011.09.005 |
0.305 |
|
2011 |
Kircher M, Heyn P, Kelso J. Addressing challenges in the production and analysis of illumina sequencing data Bmc Genomics. 12. PMID 21801405 DOI: 10.1186/1471-2164-12-382 |
0.383 |
|
2010 |
Reich D, Green RE, Kircher M, Krause J, Patterson N, Durand EY, Viola B, Briggs AW, Stenzel U, Johnson PL, Maricic T, Good JM, Marques-Bonet T, Alkan C, Fu Q, et al. Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature. 468: 1053-60. PMID 21179161 DOI: 10.1038/Nature09710 |
0.408 |
|
2010 |
Meyer M, Kircher M. Illumina sequencing library preparation for highly multiplexed target capture and sequencing. Cold Spring Harbor Protocols. 2010: pdb.prot5448. PMID 20516186 DOI: 10.1101/Pdb.Prot5448 |
0.385 |
|
2010 |
Kircher M, Kelso J. High-throughput DNA sequencing - Concepts and limitations Bioessays. 32: 524-536. PMID 20486139 DOI: 10.1002/Bies.200900181 |
0.375 |
|
2010 |
Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, Patterson N, Li H, Zhai W, Fritz MH, Hansen NF, Durand EY, Malaspinas AS, Jensen JD, Marques-Bonet T, et al. A draft sequence of the Neandertal genome. Science (New York, N.Y.). 328: 710-22. PMID 20448178 DOI: 10.1126/Science.1188021 |
0.421 |
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2010 |
Krause J, Briggs AW, Kircher M, Maricic T, Zwyns N, Derevianko A, Pääbo S. A complete mtDNA genome of an early modern human from Kostenki, Russia. Current Biology : Cb. 20: 231-6. PMID 20045327 DOI: 10.1016/J.Cub.2009.11.068 |
0.395 |
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2009 |
Kircher M, Stenzel U, Kelso J. Improved base calling for the Illumina Genome Analyzer using machine learning strategies. Genome Biology. 10: R83. PMID 19682367 DOI: 10.1186/Gb-2009-10-8-R83 |
0.364 |
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