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European Journal of Pediatrics|July 7, 2021
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literatureFrancesca Di Candia, Paolo Fontana, Pamela Paglia, et al.
The Journal of Clinical Investigation|November 9, 2023
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disordersHuilun H Wang, Liangguang L Lin, Zexin J Li, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2020
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case SeriesFerdy S van Geest, Marcel E Meima, Kyra E Stuurman, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndromeGerarda Cappuccio, Simona Brillante, Roberta Tammaro, et al.
Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.
Journal of Clinical Immunology|September 28, 2023
Antibody Deficiency in Patients with Biallelic KARS1 MutationsFrancesco Saettini, Fabiola Guerra, Grazia Fazio, et al.
Stem Cell Reports|May 17, 2024
Rigor and reproducibility in human brain organoid research: Where we are and where we need to goSoraya O Sandoval, Gerarda Cappuccio, Karina Kruth, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
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