Karyn Meltz Steinberg
Karyn Meltz Steinberg
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Zitiert von
Zitiert von
The next-generation sequencing revolution and its impact on genomics
DC Koboldt, KM Steinberg, DE Larson, RK Wilson, ER Mardis
Cell 155 (1), 27-38, 2013
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe, N Bouk, HC Chen, PA Kitts, ...
Genome research 27 (5), 849-864, 2017
Microarray-based genomic selection for high-throughput resequencing
DT Okou, KM Steinberg, C Middle, DJ Cutler, TJ Albert, ME Zwick
Nature methods 4 (11), 907-909, 2007
Discovery and genotyping of structural variation from long-read haploid genome sequence data
J Huddleston, MJP Chaisson, KM Steinberg, W Warren, K Hoekzema, ...
Genome research 27 (5), 677-685, 2017
Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation
CT Watson, KM Steinberg, J Huddleston, RL Warren, M Malig, J Schein, ...
The American Journal of Human Genetics 92 (4), 530-546, 2013
Grazing protozoa and the evolution of the Escherichia coli O157:H7 Shiga toxin-encoding prophage
K Meltz Steinberg, BR Levin
Proceedings of the Royal Society B: Biological Sciences 274 (1621), 1921-1929, 2007
Extending reference assembly models
DM Church, VA Schneider, KM Steinberg, MC Schatz, AR Quinlan, ...
Genome biology 16 (1), 1-5, 2015
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci
EJ Leslie, MA Taub, H Liu, KM Steinberg, DC Koboldt, Q Zhang, ...
The American Journal of Human Genetics 96 (3), 397-411, 2015
Exome sequencing of Finnish isolates enhances rare-variant association power
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, ...
Nature 572 (7769), 323-328, 2019
Single haplotype assembly of the human genome from a hydatidiform mole
KM Steinberg, VA Schneider, TA Graves-Lindsay, RS Fulton, R Agarwala, ...
Genome research 24 (12), 2066-2076, 2014
Structural diversity and African origin of the 17q21. 31 inversion polymorphism
KM Steinberg, F Antonacci, PH Sudmant, JM Kidd, CD Campbell, L Vives, ...
Nature genetics 44 (8), 872-880, 2012
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
F Antonacci, MY Dennis, J Huddleston, PH Sudmant, KM Steinberg, ...
Nature genetics 46 (12), 1293-1302, 2014
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus
M Mueller, P Barros, AS Witherden, AL Roberts, Z Zhang, H Schaschl, ...
The American Journal of Human Genetics 92 (1), 28-40, 2013
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
KM Steinberg, B Yu, DC Koboldt, ER Mardis, R Pamphlett
Scientific reports 5 (1), 9124, 2015
Exome-based mapping and variant prioritization for inherited Mendelian disorders
DC Koboldt, DE Larson, LS Sullivan, SJ Bowne, KM Steinberg, ...
The American Journal of Human Genetics 94 (3), 373-384, 2014
Combining Microarray‐based Genomic Selection (MGS) with the Illumina Genome Analyzer Platform to Sequence Diploid Target Regions
DT Okou, AE Locke, KM Steinberg, K Hagen, P Athri, AC Shetty, V Patel, ...
Annals of human genetics 73 (5), 502-513, 2009
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations
AC Shetty, P Athri, K Mondal, VL Horner, KM Steinberg, V Patel, ...
BMC bioinformatics 11, 1-8, 2010
Comparison of patient and physician perspectives in the management of rheumatoid arthritis: results from global physician-and patient-based surveys
A Gibofsky, J Galloway, J Kekow, C Zerbini, M De La Vega, G Lee, ...
Health and Quality of Life Outcomes 16, 1-11, 2018
Resolving the breakpoints of the 17q21. 31 microdeletion syndrome with next-generation sequencing
A Itsara, LELM Vissers, KM Steinberg, KJ Meyer, MC Zody, DA Koolen, ...
The American Journal of Human Genetics 90 (4), 599-613, 2012
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
KM Steinberg, D Ramachandran, VC Patel, AC Shetty, DJ Cutler, ...
Molecular autism 3, 1-12, 2012
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