Folgen
Karyn Meltz Steinberg
Karyn Meltz Steinberg
GeneDx
Bestätigte E-Mail-Adresse bei genedx.com
Titel
Zitiert von
Zitiert von
Jahr
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
13202013
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
9652017
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
4892007
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
4052017
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
2562013
Extending reference assembly models
DM Church, VA Schneider, KM Steinberg, MC Schatz, AR Quinlan, ...
Genome biology 16, 1-5, 2015
1922015
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
1862007
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
1792015
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
1642019
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
1642014
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
1592012
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
1332014
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
842013
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
672015
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
552009
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
542014
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
472010
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
452018
Results of a global, patient-based survey assessing the impact of psoriatic arthritis discussed in the context of the Psoriatic Arthritis Impact of Disease (PsAID) questionnaire
LC Coates, AM Orbai, VF Azevedo, JC Cappelleri, K Steinberg, R Lippe, ...
Health and quality of life outcomes 18, 1-10, 2020
382020
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
342012
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20