E-LIB Suche - Ergebnisse für: Cooley Coleman, Jessica A.

1

MEF2C regulates NK cell effector functions through control ..:

Li, Joey H. ; Zhou, Adalia ; Lee, Cassidy D....
Nature Immunology. 25 (2024) 5 - p. 778-789 , 2024

2

Expansion and mechanistic insights into de novo DEAF1 varia..:

McGee, Stacey R ; Rajamanickam, Shivakumar ; Adhikari, Sandeep...
Human Molecular Genetics. 32 (2022) 3 - p. 386-401 , 2022

Link: https://doi.org/10.1093/..

3

Mosaicism of common pathogenic MECP2 variants identified in..:

Cooley Coleman, Jessica A. ; Fee, Timothy ; Bend, Renee...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2988-2998 , 2022

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

4

RNA analysis of the GALNS transcript reveals novel pathogen..:

Sohn, Young Bae ; Rogers, Curtis ; Stallworth, Jennifer...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100875 , 2022

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

5

Clinical and functional characterization of germline PIK3CA..:

Cooley Coleman, Jessica A ; Gass, Jennifer M ; Srikanth, Sujata...
Human Molecular Genetics. 32 (2022) 9 - p. 1457-1465 , 2022

Link: https://doi.org/10.1093/..

6

Clinical findings from the landmark MEF2C‐related disorders..:

Cooley Coleman, Jessica A. ; Sarasua, Sara M. ; Moore, Hannah Warren...
Molecular Genetics & Genomic Medicine. 10 (2022) 6 - p. , 2022

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

7

Tremors: A concept analysis:

Cooley Coleman, Jessica A. ; Sarasua, Sara M. ; Boccuto, Luigi...
Nursing Open. 8 (2021) 5 - p. 2419-2428 , 2021

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

8

Comprehensive investigation of the phenotype of MEF2C‐relat..:

Cooley Coleman, Jessica A. ; Sarasua, Sara M. ; Boccuto, Luigi...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3884-3894 , 2021

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

9

P727: Rare disease diagnostics using RNA-Seq: How an invest..:

Coleman, Jessica Cooley ; Kandhadai, Adithya ; Clinemyer, Christa...
Genetics in Medicine Open. 2 (2024) - p. 101631 , 2024

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

10

Author Correction: MEF2C regulates NK cell effector functio..:

Li, Joey H. ; Zhou, Adalia ; Lee, Cassidy D....
Nature Immunology. 25 (2024) 5 - p. 928-928 , 2024

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

11

P664: Functional genomic studies resolve an OTUD6B deep int..:

Coleman, Jessica Cooley ; Mokashi, Sneha ; Kandhadai, Adithya...
Genetics in Medicine Open. 2 (2024) - p. 101569 , 2024

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

12

The smallest likely pathogenic duplication of a SOX9 enhanc..:

Sajan, Samin A. ; Brown, Carolyn M. ; Davis‐Keppen, Laura...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2831-2836 , 2023

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

13

P569: Identification of a novel, deep-intronic alteration i..:

Tedder, Matthew ; Coleman, Jessica Cooley ; Childers, Anna...
Genetics in Medicine Open. 1 (2023) 1 - p. 100616 , 2023

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

14

Performance of in silico splice tools used at the GGC for d..:

Shi, Xuemei ; Abidi, Fatima ; Butler, Kameryn...
Molecular Genetics and Metabolism. 132 (2021) - p. S277-S278 , 2021

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

15

Using pyrosequencing to determine the allele origin of 15q ..:

Patterson, Wesley ; Abidi, Fatima ; Gass, Jennifer M....
Molecular Genetics and Metabolism. 132 (2021) - p. S256-S257 , 2021

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