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Murphy, Karyn Meltz
21  results:
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1

P248: A genotype-first approach to identifying treatable ge..:

Murphy, Karyn Meltz ; Torene, Rebecca ; Kelly, Melissa..
Genetics in Medicine Open.  2 (2024)  - p. 101144 , 2024
Link: https://doi.org/10.1016/..
 
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2

Evaluation of GRCh38 and de novo haploid genome assemblies ..:

Schneider, Valerie A. ; Graves-Lindsay, Tina ; Howe, Kerstin...
Genome Research.  27 (2017)  5 - p. 849-864 , 2017
Link: https://doi.org/10.1101/..
 
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3

Evaluation of GRCh38 and de novo haploid genome assemblies ..:

Schneider, Valerie A ; Graves-Lindsay, Tina ; Howe, Kerstin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411779/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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4

Exome sequencing of Finnish isolates enhances rare-variant ..:

Locke, Adam E. ; Steinberg, Karyn Meltz ; Chiang, Charleston W. K....
Nature.  572 (2019)  7769 - p. 323-328 , 2019
Link: https://doi.org/10.1038/..
 
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5

Author Correction: Exome sequencing of Finnish isolates enh..:

FinnGen Project ; Locke, Adam E. ; Steinberg, Karyn Meltz...
Nature.  575 (2019)  7783 - p. E4-E4 , 2019
Link: https://doi.org/10.1038/..
 
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6

A novel FAS mutation with variable expressivity in a family..:

Baker, Turner S. ; Gambino, Kristyne J. ; Schriefer, Lawrence...
Blood Advances.  2 (2018)  21 - p. 2959-2963 , 2018
Link: https://doi.org/10.1182/..
 
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7

Corrigendum: Discovery and genotyping of structural variati..:

Huddleston, John ; Chaisson, Mark J.P. ; Steinberg, Karyn Meltz...
Genome Research.  28 (2018)  1 - p. 144-144 , 2018
Link: https://doi.org/10.1101/..
 
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8

Discovery and genotyping of structural variation from long-..:

Huddleston, John ; Chaisson, Mark J.P. ; Steinberg, Karyn Meltz...
Genome Research.  27 (2016)  5 - p. 677-685 , 2016
Link: https://doi.org/10.1101/..
 
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9

Exome sequencing of case-unaffected-parents trios reveals r..:

Steinberg, Karyn Meltz ; Yu, Bing ; Koboldt, Daniel C...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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10

Extending reference assembly models:

Church, Deanna M ; Schneider, Valerie A ; Steinberg, Karyn Meltz...
Genome Biology.  16 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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11

Identification of Functional Variants for Cleft Lip with or..:

Leslie, Elizabeth J. ; Taub, Margaret A. ; Liu, Huan...
The American Journal of Human Genetics.  96 (2015)  3 - p. 397-411 , 2015
Link: https://doi.org/10.1016/..
 
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12

Single haplotype assembly of the human genome from a hydati..:

Steinberg, Karyn Meltz ; Schneider, Valerie A. ; Graves-Lindsay, Tina A....
Genome Research.  24 (2014)  12 - p. 2066-2076 , 2014
Link: https://doi.org/10.1101/..
 
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13

Palindromic GOLGA8 core duplicons promote chromosome 15q13...:

Antonacci, Francesca ; Dennis, Megan Y ; Huddleston, John...
Nature Genetics.  46 (2014)  12 - p. 1293-1302 , 2014
Link: https://doi.org/10.1038/..
 
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14

The Next-Generation Sequencing Revolution and Its Impact on..:

Koboldt, Daniel C. ; Steinberg, Karyn Meltz ; Larson, David E...
Cell.  155 (2013)  1 - p. 27-38 , 2013
Link: https://doi.org/10.1016/..
 
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15

Structural diversity and African origin of the 17q21.31 inv..:

Steinberg, Karyn Meltz ; Antonacci, Francesca ; Sudmant, Peter H...
Nature Genetics.  44 (2012)  8 - p. 872-880 , 2012
Link: https://doi.org/10.1038/..
 
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