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Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Annals of Clinical and Translational Neurology|September 12, 2021
L1CAM variants cause two distinct imaging phenotypes on fetal MRIAndrea Accogli, Stacy Goergen, Giana Izzo, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 7, 2011
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumorFranck Bourdeaut, Delphine Lequin, Laurence Brugières, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
American Journal of Medical Genetics. Part A|August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
Genes & Development|June 4, 2008
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5Dorota Szumska, Guido Pieles, Rachid Essalmani, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
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