מאמרים עם הרשאות לגישה ציבורית - Jay Shendureלמידע נוסף
לא זמינים באתר כלשהו: 5
בדוק
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue‏
AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem, M Alshammari, ...‏
Human genetics 135, 525-540, 2016‏
הרשאות: US National Institutes of Health‏
בדוק
Tagmentation-based library preparation for low DNA input whole genome bisulfite sequencing‏
D Weichenhan, Q Wang, A Adey, S Wolf, J Shendure, R Eils, C Plass‏
DNA Methylation Protocols, 105-122, 2018‏
הרשאות: US National Science Foundation, Helmholtz Association, Federal Ministry of …‏
בדוק
A novel homozygous mutation in the FUCA1 gene highlighting fucosidosis as a cause of dystonia: Case report and literature review‏
G Wali, GM Wali, CM Sue, KR Kumar‏
Neuropediatrics 50 (04), 248-252, 2019‏
הרשאות: National Health and Medical Research Council, Australia, Medical Research …‏
בדוק
Research briefing‏
JB Lalanne, J Shendure‏
Nature Methods 21, 936-937, 2024‏
הרשאות: Howard Hughes Medical Institute‏
בדוק
2013 NIH High Risk-High Reward Research Awards Announced‏
AFT Arnsten, ES Boyden, MZ Lin, JA Shendure, F Wang, LS Weinberger, ...‏
Journal of Investigative Medicine 61 (8), 2013‏
הרשאות: US National Institutes of Health‏
זמינים באתר כלשהו: 397
בדוק
A general framework for estimating the relative pathogenicity of human genetic variants‏
M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure‏
Nature genetics 46 (3), 310-315, 2014‏
הרשאות: US National Institutes of Health‏
בדוק
CADD: predicting the deleteriousness of variants throughout the human genome‏
P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher‏
Nucleic acids research 47 (D1), D886-D894, 2019‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute, German …‏
בדוק
The single-cell transcriptional landscape of mammalian organogenesis‏
J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ...‏
Nature 566 (7745), 496-502, 2019‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute, German …‏
בדוק
The contribution of de novo coding mutations to autism spectrum disorder‏
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...‏
Nature 515 (7526), 216-221, 2014‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …‏
בדוק
Targeted capture and massively parallel sequencing of 12 human exomes‏
SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ...‏
Nature 461 (7261), 272-276, 2009‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
בדוק
Exome sequencing identifies the cause of a mendelian disorder‏
SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ...‏
Nature genetics 42 (1), 30-35, 2010‏
הרשאות: US National Institutes of Health‏
בדוק
The complete genome sequence of a Neanderthal from the Altai Mountains‏
K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ...‏
Nature 505 (7481), 43-49, 2014‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
בדוק
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations‏
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...‏
Nature 485 (7397), 246-250, 2012‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
בדוק
A high-coverage genome sequence from an archaic Denisovan individual‏
M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ...‏
Science 338 (6104), 222-226, 2012‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
בדוק
Exome sequencing as a tool for Mendelian disease gene discovery‏
MJ Bamshad, SB Ng, AW Bigham, HK Tabor, MJ Emond, DA Nickerson, ...‏
Nature Reviews Genetics 12 (11), 745-755, 2011‏
הרשאות: US National Institutes of Health‏
בדוק
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome‏
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...‏
Nature genetics 42 (9), 790-793, 2010‏
הרשאות: US National Institutes of Health‏
בדוק
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer‏
M Peifer, L Fernández-Cuesta, ML Sos, J George, D Seidel, LH Kasper, ...‏
Nature genetics 44 (10), 1104-1110, 2012‏
הרשאות: US National Institutes of Health, German Research Foundation‏
בדוק
Target-enrichment strategies for next-generation sequencing‏
L Mamanova, AJ Coffey, CE Scott, I Kozarewa, EH Turner, A Kumar, ...‏
Nature methods 7 (2), 111-118, 2010‏
הרשאות: US National Institutes of Health‏
בדוק
Comprehensive single-cell transcriptional profiling of a multicellular organism‏
J Cao, JS Packer, V Ramani, DA Cusanovich, C Huynh, R Daza, X Qiu, ...‏
Science 357 (6352), 661-667, 2017‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
בדוק
Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin‏
MW Snyder, M Kircher, AJ Hill, RM Daza, J Shendure‏
Cell 164 (1), 57-68, 2016‏
הרשאות: US National Institutes of Health, Howard Hughes Medical Institute‏
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