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Journal of the American College of Cardiology|April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissectionsAida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
American Journal of Human Genetics|April 11, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureNavin B Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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