Suchergebnisse - "Peter White"

PubPharm (46)

1

SNVstory: inferring genetic ancestry from genome sequencing data

in: BMC Bioinformatics | 2024

von Audrey E. Bollas | Andrei Rajkovic | Defne Ceyhan | +3

2

Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity

in: BMC Genomics | 2024

von Saranga Wijeratne | Maria E. Hernandez Gonzalez | Kelli Roach | +10

3

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

in: Genetics in Medicine Open | 2024

von Swetha Ramadesikan | Caitlyn Colwell | Mohammad Marhabaie | +13

4

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

in: Frontiers in Genetics | 2024

von Umamaheswaran Gurusamy | Swetha Ramadesikan | Mohammad Marhabaie | +17

5

Glucocorticoid- and pioglitazone-induced proteinuria reduction in experimental NS both correlate with glomerular ECM modulation

in: iScience | 2024

von Sagar Bhayana | Julie A. Dougherty | Yu Kamigaki | +8

6

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

in: Genetics in Medicine Open | 2023

von Wesley Goar | Kori Kuzma | Kathryn Stahl | +21

7

P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

in: Genetics in Medicine Open | 2023

von Erica Macke | Kathleen Schieffer | Mariam Mathew | +17

8

O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes*

in: Genetics in Medicine Open | 2023

von Kathleen Schieffer | David Gordon | Gregory Wheeler | +17

9

Psychological stress disrupts intestinal epithelial cell function and mucosal integrity through microbe and host-directed processes

in: Gut Microbes | 2022

von Jacob M. Allen | Amy R. Mackos | Robert M. Jaggers | +8

10

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

in: PLoS Genetics | 2022

von David M Gordon | David Cunningham | Gloria Zender | +16

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