E-LIB Suche - Ergebnisse für: Wojcik, Monica H

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

Genomic testing and molecular diagnosis among infants with ..:

D'Souza, Erica E. ; Findley, Tina O. ; Hu, Rachel...
Journal of Perinatology. , 2024

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

3

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024

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

4

"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/..

5

Implications of Genomic Newborn Screening for Infant Mortal..:

Wojcik, Monica H. ; Gold, Nina B.
International Journal of Neonatal Screening. 9 (2023) 1 - p. 12 , 2023

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

6

Provision and availability of genomic medicine services in ..:

Wojcik, Monica H. ; Callahan, Katharine P. ; Antoniou, Austin...
Genetics in Medicine. 25 (2023) 10 - p. 100926 , 2023

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

7

AXIN2‐related oligodontia‐colorectal cancer syndrome with c..:

Roht, Laura ; Hyldebrandt, Hanne K. ; Stormorken, Astrid T....
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023

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

8

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

9

Impaired protein hydroxylase activity causes replication st..:

Fletcher, Sally C. ; Hall, Charlotte ; Kennedy, Tristan J....
Journal of Clinical Investigation. 133 (2023) 7 - p. , 2023

Link: https://doi.org/10.1172/..

10

Correspondence on "Points to consider in the practice of po..:

Alkuraya, Fowzan S. ; Gray, Kathryn J. ; Prakash, Siddharth K...
Genetics in Medicine. 25 (2023) 10 - p. 100904 , 2023

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

11

Advancing Understanding of Inequities in Rare Disease Genom..:

Serrano, Jillian G. ; O'Leary, Melanie ; VanNoy, Grace E....
Clinical Therapeutics. 45 (2023) 8 - p. 745-753 , 2023

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

12

The fundamental need for unifying phenotypes in sudden unex..:

Wojcik, Monica H. ; Poduri, Annapurna H. ; Holm, Ingrid A...
Frontiers in Medicine. 10 (2023) - p. , 2023

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

13

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/..

14

Beyond the exome: What's next in diagnostic testing for Men..:

Wojcik, Monica H. ; Reuter, Chloe M. ; Marwaha, Shruti...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1229-1248 , 2023

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

15

A novel syndrome associated with prenatal fentanyl exposure:

Wadman, Erin ; Fernandes, Erica ; Muss, Candace...
Genetics in Medicine Open. 1 (2023) 1 - p. 100834 , 2023

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