E-LIB Suche - Ergebnisse für: Laurie, Steven

1

Rare disease research workflow using multilayer networks el..:

Núñez-Carpintero, Iker ; Rigau, Maria ; Bosio, Mattia...
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

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

3

Increased Diagnostic Yield by Reanalysis of Whole Exome Seq..:

Olimpio, Catarina ; Paramonov, Ida ; Matalonga, Leslie...
Journal of Neuromuscular Diseases. , 2024

Link: https://doi.org/10.3233/..

4

Partial loss of desmin expression due to a leaky splice sit..:

Polavarapu, Kiran ; O'Neil, Daniel ; Thompson, Rachel...
Neuromuscular Disorders. 39 (2024) - p. 10-18 , 2024

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

5

Advancing the Understanding of Vesicle-Associated Membrane ..:

Natera-de Benito, Daniel ; Pugliese, Alessia ; Polavarapu, Kiran...
Pediatric Neurology. 157 (2024) - p. 5-13 , 2024

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

6

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

7

P11-057-23 Genetics of One-Carbon Metabolism Are Associated..:

Smith, Scott ; Macias, Brandon ; Laurie, Steven...
Current Developments in Nutrition. 7 (2023) - p. 101852 , 2023

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

8

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

9

Remote visualization of large-scale genomic alignments for ..:

Corvò, Alberto ; Matalonga, Leslie ; Spalding, Dylan...
Cell Genomics. 3 (2023) 2 - p. 100246 , 2023

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

10

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
The Journal of Molecular Diagnostics. 24 (2022) 5 - p. 529-542 , 2022

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

11

Solving the genetic aetiology of hereditary gastrointestina..:

Sommer, Anna K. ; te Paske, Iris B.A.W. ; Garcia-Pelaez, José...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104475 , 2022

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

12

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerati..:

Laurie, Steven ; Piscia, Davide ; Matalonga, Leslie...
Human Mutation. , 2022

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

13

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin..:

Gungor, Serdal ; Oktay, Yavuz ; Hiz, Semra...
iScience. 24 (2021) 1 - p. 101948 , 2021

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

14

Correction to: Solve-RD: systematic pan-European data shari..:

Zurek, Birte ; Ellwanger, Kornelia ; Vissers, Lisenka E. L. M....
European Journal of Human Genetics. 29 (2021) 9 - p. 1459-1461 , 2021

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

15

Correction: A MT-TL1 variant identified by whole exome sequ..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics. 29 (2021) 9 - p. 1470-1471 , 2021

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