Results 281 to 290 of about 390,058 (293)

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

2020
Protocadherin-19 (PCDH19) pathogenic variants cause an infantile onset epilepsy syndrome called Girls Clustering Epilepsy due to the vast majority of affected individuals being female. This syndromic name was developed to foster early recognition and diagnosis in infancy.
Kolc, Kristy L., Møller, Rikke S., Sadleir, Lynette G., Scheffer, Ingrid E., Kumar, Raman, Gecz, Jozef   +5 more
openaire   +3 more sources

Potentially pathogenic and pathogenic G6PD variants

The American Journal of Human Genetics, 2023
Lucio, Luzzatto, Caterina, Nannelli, Rosario, Notaro   +2 more
openaire   +2 more sources

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

neurogenetics, 2019
Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and ...
Andrea, Accogli, Laura, Russell, Guillaume, Sébire, Jean-Baptiste, Rivière, Judith, St-Onge, Nassima, Addour-Boudrahem, Alexandre Dionne, Laporte, Guy A, Rouleau, Christine, Saint-Martin, Myriam, Srour   +9 more
openaire   +2 more sources

Advancing missense variant pathogenicity prediction

Nature Biotechnology, 2023
openaire   +2 more sources

Predicting variant pathogenicity with AlphaMissense

Nature Reviews Genetics, 2023
openaire   +2 more sources

Sleep disturbances associated with DEAF1 pathogenic variants

Journal of Clinical Sleep Medicine
Neurodevelopmental disorders and sleep disturbances share genetic risk factors. DEAF1 genetic variants are associated with rare syndromes in which sleep disturbances are commonly reported, yet the specific sleep disorders in these patients, and the molecular mechanisms underlying this association, are unknown.
Pedro, Guerreiro, Mariana, Moysés-Oliveira, Mayara, Paschalidis, Anna, Kloster, Lais, Cunha, Tais Bassani, Deconto, Amanda Cristina, Mosini, Bruna Pereira, Marquezini, Luana Nayara Gallego, Adami, Monica L, Andersen, Sergio, Tufik   +10 more
openaire   +2 more sources

Variant pathogenicity prediction

2017
Dominik Seelow, Peter Robinson
openaire   +1 more source

Uromodulin and CKD: insight into variant pathogenicity

Kidney International, 2023
Nora, Franceschini, Jonathan S, Berg
openaire   +2 more sources

Fucosidosis with Pathogenic Variant in FUCA1 Gene

The Indian Journal of Pediatrics, 2020
Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Hemadri Vegda, Maya Bhat   +3 more
openaire   +2 more sources

Alphamissense Predictive of Pathogenic Protein Variants

American Journal of Medical Genetics Part A
openaire   +2 more sources