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American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Neurobiology of Disease|November 4, 2018
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicityCecilia Mancini, Eriola Hoxha, Luisa Iommarini, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
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