E-LIB Suche - Ergebnisse für: Chowdhury, Shimul

1

Tu1439 DETECTION OF HIGH-RISK PANCREATIC CYSTS USING AVANTE..:

Bergamaschi, Anna ; Leighton, Anna ; Haan, David...
Gastroenterology. 166 (2024) 5 - p. S-1341-S-1342 , 2024

Link: https://doi.org/10.1016/..

2

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/..

3

Report of two cases of Schaaf‐Yang syndrome: Same genotype ..:

Rodriguez, Ana Maria ; Schain, Katherine ; Jayakar, Parul...
Clinical Case Reports. 11 (2023) 8 - p. , 2023

Link: https://doi.org/10.1002/..

4

Epigenomic Blood-Based Early Detection of Pancreatic Cancer..:

Haan, David ; Bergamaschi, Anna ; Friedl, Verena...
Clinical Gastroenterology and Hepatology. 21 (2023) 7 - p. 1802-1809.e6 , 2023

Link: https://doi.org/10.1016/..

5

Cost Efficacy of Rapid Whole Genome Sequencing in the Pedia..:

Sanford Kobayashi, Erica ; Waldman, Bryce ; Engorn, Branden M....
Frontiers in Pediatrics. 9 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

6

Best practices for the interpretation and reporting of clin..:

Austin-Tse, Christina A. ; Jobanputra, Vaidehi ; Perry, Denise L....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

7

Evaluating use of changing technologies for rapid next-gene..:

Palmquist, Rachel ; Jenkins, Sabrina Malone ; Bentley, Dawn...
Pediatric Research. 92 (2022) 5 - p. 1364-1369 , 2022

Link: https://doi.org/10.1038/..

8

OP039: Best practices for the interpretation and reporting ..:

Austin-Tse, Chrissy ; Jobanputra, Vaidehi ; Perry, Denise...
Genetics in Medicine. 24 (2022) 3 - p. S365-S366 , 2022

Link: https://doi.org/10.1016/..

9

An automated 13.5 hour system for scalable diagnosis and ac..:

Owen, Mallory J. ; Lefebvre, Sebastien ; Hansen, Christian...
Nature Communications. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

10

Rapid whole genome sequencing impacts care and resource uti..:

Sweeney, Nathaly M. ; Nahas, Shareef A. ; Chowdhury, Shimul...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

11

Publisher Correction: Rapid whole genome sequencing impacts..:

Sweeney, Nathaly M. ; Nahas, Shareef A. ; Chowdhury, Shimul...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

12

Artificial intelligence enables comprehensive genome interp..:

De La Vega, Francisco M. ; Chowdhury, Shimul ; Moore, Barry...
Genome Medicine. 13 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

13

Author Correction: Rapid whole genome sequencing impacts ca..:

Sweeney, Nathaly M. ; Nahas, Shareef A. ; Chowdhury, Shimul...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

14

Ending a diagnostic odyssey: Moving from exome to genome to..:

Friedman, Jennifer ; Bird, Lynne M. ; Haas, Richard...
Molecular Genetics & Genomic Medicine. 9 (2021) 7 - p. , 2021

Link: https://doi.org/10.1002/..

15

One in seven pathogenic variants can be challenging to dete..:

Lincoln, Stephen E. ; Hambuch, Tina ; Zook, Justin M....
Genetics in Medicine. 23 (2021) 9 - p. 1673-1680 , 2021

Link: https://doi.org/10.1038/..