E-LIB Suche - Ergebnisse für: Genetti, Casie A.

1

Implementation of rapid genomic sequencing in safety-net ne..:

D'Gama, Alissa M ; Hills, Sonia ; Douglas, Jessica...
BMJ Open. 14 (2024) 2 - p. e080529 , 2024

Link: https://doi.org/10.1136/..

2

"It's hard to wait": Provider Perspectives on Current Genom..:

D'Gama, Alissa M. ; Wojcik, Monica H. ; Hills, Sonia...
Genetics in Medicine. , 2024

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

3

P645: Utility of RNAseq in a cohort of undiagnosed congenit..:

Genetti, Casie ; Barraza-Flores, Pamela ; Shao, Wanqing...
Genetics in Medicine Open. 2 (2024) - p. 101551 , 2024

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

4

X-linked hypophosphatemia in 4 generations due to an exon 1..:

Soto Barros, Julio ; Sanchez, Sabrina I. ; Cabral, Kristin...
Bone. 172 (2023) - p. 116763 , 2023

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

5

High number of candidate gene variants are identified as di..:

Hills, Sonia ; Li, Qifei ; Madden, Jill A....
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

6

An intronic variant in TBX4 in a single family with variabl..:

Flanagan, Frances O. ; Holtz, Alexander M. ; Vargas, Sara O....
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

7

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:

Wojcik, Monica H. ; Srivastava, Siddharth ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023

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

8

Clinical Characterization of Pediatric Erythromelalgia: A S..:

Sun, Jenny ; Ocay, Don Daniel ; Halpin, Meghan...
Children. 10 (2023) 8 - p. 1282 , 2023

Link: https://doi.org/10.3390/..

9

P410: The effect of newborn genomic screening on downstream..:

Smith, Hadley ; Agrawal, Pankaj ; Dukhovny, Dmitry...
Genetics in Medicine Open. 1 (2023) 1 - p. 100446 , 2023

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

10

P452: Specifying the ACMG/AMP variant sequence interpretati..:

DiStefano, Marina ; Webb, Ryan ; McCurry, Hannah...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023

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

11

Parents' decision-making regarding whether to receive adult..:

Pereira, Stacey ; Gutierrez, Amanda M. ; Robinson, Jill Oliver...
Genetics in Medicine. 25 (2023) 3 - p. 100002 , 2023

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

12

Correlating Testing for Rare Genetic Variants with a Broad ..:

Jayaraman, Divya ; Genetti, Casie ; Aykanat, Asli...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

13

P672: Long-read sequencing reveals a novel pathogenic varia..:

Miller, Danny ; Dash, Camille ; Miller, David...
Genetics in Medicine Open. 1 (2023) 1 - p. 100737 , 2023

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

14

Actionability of unanticipated monogenic disease risks in n..:

Green, Robert C. ; Shah, Nidhi ; Genetti, Casie A....
The American Journal of Human Genetics. 110 (2023) 7 - p. 1034-1045 , 2023

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

15

Real-world analysis of healthcare resource utilization by p..:

Graham, Robert J. ; Darras, Basil T. ; Haselkorn, Tmirah...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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