Suchergebnisse - "Matalonga, Leslie"

PubPharm (74)

1

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

enthalten in: bioRxiv.org | 2024

von Jacobsen, J. | Baudis, M. | Baynam, G. | +44

2

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects

enthalten in: Neuromuscular disorders : NMD | 2024

von Polavarapu, K. | O'Neil, D. | Thompson, R. | +17

3

Improving Diagnostic Precision : Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

enthalten in: Journal of neuromuscular diseases | 2024

von Estévez-Arias, B. | Matalonga, L. | Martorell, L. | +13

4

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease : a preliminary methodological report

enthalten in: European journal of human genetics : EJHG | 2024

von Lagorce, D. | Lebreton, E. | Matalonga, L. | +12

5

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

enthalten in: Brain : a journal of neurology | 2024

von Polavarapu, K. | Sunitha, B. | Töpf, A. | +23

6

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

enthalten in: ResearchSquare.com | 2023

von Lebreton, E. | Matalonga, L. | Hongnat, O. | +12

7

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

enthalten in: Human genomics | 2023

von Yaldiz, B. | Kucuk, E. | Hampstead, J. | +109

8

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Denommé-Pichon, A. | Matalonga, L. | de Boer, E. | +148

9

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

enthalten in: International journal of molecular sciences | 2023

von Codina, A. | Roldán, M. | Natera-de Benito, D. | +11

10

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

enthalten in: Cell genomics | 2023

von Corvò, A. | Matalonga, L. | Spalding, D. | +20

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