E-LIB Suche - Ergebnisse für: Kitzman, Jacob O.

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

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/..

5

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/..

6

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/..

7

Saturation-scale functional evidence supports clinical vari..:

Scott, Anthony ; Hernandez, Felicia ; Chamberlin, Adam...
Genome Biology. 23 (2022) 1 - p. , 2022

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

8

Gene amplification acts as a molecular foothold to facilita..:

Banerjee, Shefali ; Smith, Cathy ; Geballe, Adam P...
Virus Evolution. 8 (2022) 2 - p. , 2022

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

9

GCAF(TMEM251) regulates lysosome biogenesis by activating t..:

Zhang, Weichao ; Yang, Xi ; Li, Yingxiang...
Nature Communications. 13 (2022) 1 - p. , 2022

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

10

Longitudinal profiling of clonal hematopoiesis provides ins..:

Uddin, Md Mesbah ; Zhou, Ying ; Bick, Alexander G....
Immunity & Ageing. 19 (2022) 1 - p. , 2022

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

11

Massively parallel functional testing of MSH2 missense vari..:

Jia, Xiaoyan ; Burugula, Bala Bharathi ; Chen, Victor...
The American Journal of Human Genetics. 108 (2021) 1 - p. 163-175 , 2021

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

12

Chromatin information content landscapes inform transcripti..:

D'Oliveira Albanus, Ricardo ; Kyono, Yasuhiro ; Hensley, John...
Nature Communications. 12 (2021) 1 - p. , 2021

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

13

SOX10-regulated promoter use defines isoform-specific gene ..:

Fogarty, Elizabeth A. ; Kitzman, Jacob O. ; Antonellis, Anthony
BMC Genomics. 21 (2020) 1 - p. , 2020

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

14

Quantification, Dynamic Visualization, and Validation of Bi..:

Orchard, Peter ; Kyono, Yasuhiro ; Hensley, John..
Cell Systems. 10 (2020) 3 - p. 298-306.e4 , 2020

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

15

Elevated exopolysaccharide levels in Pseudomonas aeruginosa..:

Harrison, Joe J. ; Almblad, Henrik ; Irie, Yasuhiko...
PLOS Genetics. 16 (2020) 6 - p. e1008848 , 2020

Link: https://doi.org/10.1371/..