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Parkinsonism & Related Disorders|July 24, 2021
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3Yuka Koike, Karen R Jansen-West, Rana Hanna Al-Shaikh, et al.
Oncotarget|June 8, 2018
Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemiaAbhishek A Singh, Francesca Petraglia, Angela Nebbioso, et al.
The Lancet. Digital Health|February 23, 2024
Normative modelling of brain morphometry across the lifespan with CentileBrain: algorithm benchmarking and model optimisationRuiyang Ge, Yuetong Yu, Yi Xuan Qi, et al.
American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.
Human Genetics|March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome dataAlejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
Cell Reports|June 22, 2023
FIRRM/C1orf112 is synthetic lethal with PICH and mediates RAD51 dynamicsColin Stok, Stavroula Tsaridou, Nathalie van den Tempel, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Oncotarget|June 8, 2018
Combined HAT/EZH2 modulation leads to cancer-selective cell deathFrancesca Petraglia, Abhishek A Singh, Vincenzo Carafa, et al.
Plos Medicine|May 20, 2026
Brain morphology in Anorexia Nervosa and its subtypes: A multi-cohort study of individual participant dataFabio Bernardoni, Dominic Arold, Luis Schoppik, et al.
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