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Kingsmore, Stephen F.
357  Ergebnisse:
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1

Rapid genomic sequencing for genetic disease diagnosis and ..:

Kingsmore, Stephen F. ; Nofsinger, Russell ; Ellsworth, Kasia
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

TRLS-13. MULTI-OMICS AND FUNCTIONAL PRECISION MEDICINE FOR ..:

Crawford, John R ; Lo, Yan Yuen ; Pagadala, Meghana S...
Neuro-Oncology.  26 (2024)  Supplement_4 - p. 0-0 , 2024
Link: https://doi.org/10.1093/..
 
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3

Cell-type-resolved mosaicism reveals clonal dynamics of the..:

Chung, Changuk ; Yang, Xiaoxu ; Hevner, Robert F....
Nature.  629 (2024)  8011 - p. 384-392 , 2024
Link: https://doi.org/10.1038/..
 
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4

Multi-center implementation of rapid whole genome sequencin..:

Thompson, Lauren ; Larson, Austin ; Salz, Lisa...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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5

Rapid Whole-Genome Sequencing and Clinical Management in th..:

Rodriguez, Katherine M. ; Vaught, Jordan ; Salz, Lisa...
Pediatric Critical Care Medicine.  , 2024
Link: https://doi.org/10.1097/..
 
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6

Novel variants inTECRLleading to catecholaminergic polymorp..:

Jones, Douglas ; Hartung, Jacob ; Lasalle, Elizabeth...
Life Science Alliance.  7 (2024)  8 - p. e202402572 , 2024
Link: https://doi.org/10.26508..
 
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7

Advancing access to genome sequencing for rare genetic diso..:

Jobanputra, Vaidehi ; Schroeder, Brock ; Rehm, Heidi L....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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8

Genome sequencing detects a wide range of clinically releva..:

James, Kiely N. ; Chowdhury, Shimul ; Ding, Yan...
Genetics in Medicine.  26 (2024)  1 - p. 101006 , 2024
Link: https://doi.org/10.1016/..
 
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9

Automated prioritization of sick newborns for whole genome ..:

Peterson, Bennet ; Hernandez, Edgar Javier ; Hobbs, Charlotte...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

Newborn screening by rapid genome sequencing for early trea..:

Kingsmore, Stephen F.
Pathology.  55 (2023)  - p. S19 , 2023
Link: https://doi.org/10.1016/..
 
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11

Aggregating genome sequencing and electronic health record ..:

Kingsmore, Stephen F.
Pathology.  55 (2023)  - p. S18 , 2023
Link: https://doi.org/10.1016/..
 
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12

Response to Grosse et al:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics.  110 (2023)  6 - p. 1017 , 2023
Link: https://doi.org/10.1016/..
 
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13

The Genomic landscape of short tandem repeats across multip..:

Vijayaraghavan, Prashanth ; Batalov, Sergey ; Ding, Yan...
PLOS ONE.  18 (2023)  1 - p. e0279430 , 2023
Link: https://doi.org/10.1371/..
 
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14

Genomic sequencing has a high diagnostic yield in children ..:

Allred, Erika T. ; Perens, Elliot A. ; Coufal, Nicole G....
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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15

Rapid diagnostic genome sequencing for genetic diseases in ..:

Kingsmore, Stephen F.
Pathology.  55 (2023)  - p. S1 , 2023
Link: https://doi.org/10.1016/..
 
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