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
9632013
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
4492007
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
3602017
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
2362017
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
1762013
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
1552007
Extending reference assembly models
DM Church, VA Schneider, KM Steinberg, MC Schatz, AR Quinlan, ...
Genome biology 16 (1), 1-5, 2015
1372015
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
1232015
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
1192014
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
1122012
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, 2014
872014
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
682013
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
502019
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), 1-8, 2015
482015
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), 1-8, 2010
472010
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
422014
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
262012
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), 1-12, 2012
242012
Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis
K Meltz Steinberg, TJ Nicholas, DC Koboldt, B Yu, E Mardis, R Pamphlett
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 16 (5-6), 385-392, 2015
222015
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
212009
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