E-LIB Suche - Ergebnisse für: Kitzman, Jacob

1

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine. 26 (2024) 5 - p. 101097 , 2024

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

2

Variable patterns of retrotransposition in different HeLa s..:

Moldovan, John B ; Kopera, Huira C ; Liu, Ying...
Nucleic Acids Research. 52 (2024) 13 - p. 7761-7779 , 2024

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

3

Benchmarking splice variant prediction algorithms using mas..:

Smith, Cathy ; Kitzman, Jacob O.
Genome Biology. 24 (2023) 1 - p. , 2023

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

4

Predicting short-term outcomes after transcatheter aortic v..:

Savitz, Samuel T. ; Leong, Thomas ; Sung, Sue Hee...
American Heart Journal. 256 (2023) - p. 60-72 , 2023

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

5

Disruption of RNA Splicing Is an Important Contributor to C..:

Camper, Sally A ; Smith, Cathy ; Kitzman, Jacob O
Endocrinology. 164 (2023) 5 - p. , 2023

Link: https://doi.org/10.1210/..

6

Impact of clonal hematopoiesis in COVID-19 patients at high..:

Smith, Cathy ; Burugula, Bala B. ; Jones, Morgan A....
Translational Medicine Communications. 8 (2023) 1 - p. , 2023

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

7

High-Throughput Splicing Assays Identify Known and Novel WT..:

Smith, Cathy ; Burugula, Bala Bharathi ; Dunn, Ian...
Kidney International Reports. 8 (2023) 10 - p. 2117-2125 , 2023

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

8

Benchmarking splice variant prediction algorithms using mas..:

Smith, Cathy ; Kitzman, Jacob O
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187268/. , 2023

Link: http://www.ncbi.nlm.nih...

9

Impact of clonal hematopoiesis in COVID-19 patients at high..:

Cathy Smith ; Bala B. Burugula ; Morgan A. Jones...
https://doi.org/10.1186/s41231-023-00155-7. , 2023

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

10

Aberrant activation of TCL1A promotes stem cell expansion i..:

Weinstock, Joshua S ; Gopakumar, Jayakrishnan ; Burugula, Bala Bharathi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360040/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Population-scale skeletal muscle single-nucleus multi-omic ..:

Varshney, Arushi ; Manickam, Nandini ; Orchard, Peter...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760134/. , 2023

Link: http://www.ncbi.nlm.nih...

12

A maternal germline mutator phenotype in a family affected ..:

Young, Candice L ; Beichman, Annabel C ; Mas-Ponte, David...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10775336/. , 2023

Link: http://www.ncbi.nlm.nih...

13

High-Throughput Splicing Assays Identify Known and Novel WT..:

Smith, Cathy ; Burugula, Bala Bharathi ; Dunn, Ian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577367/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Benchmarking splice variant prediction algorithms using mas..:

Smith, Cathy ; Kitzman, Jacob
doi:10.5281/zenodo.8351872. , 2023

Link: https://zenodo.org/recor..

15

Benchmarking splice variant prediction algorithms using mas..:

Smith, Cathy ; Kitzman, Jacob O
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10734170/. , 2023

Link: http://www.ncbi.nlm.nih...