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Translational Pediatrics|October 10, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromasPiedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, et al.
The Journal of Biological Chemistry|December 5, 2015
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Yasuko Hirata, Hilde Brems, Mayu Suzuki, et al.
Plos Genetics|October 13, 2025
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patientsCaroline E Nunes-Xavier, Mercè Pallarès-Sastre, Ana Rodríguez-Ramos, et al.
Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 3, 2021
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main playersAndrea Domingo-Gallego, Marc Pybus, Gemma Bullich, et al.
Kidney International|May 27, 2018
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseasesGemma Bullich, Andrea Domingo-Gallego, Iván Vargas, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
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