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The Prostate|January 29, 2002
Refined mapping of allele loss at chromosome 10q23-26 in prostate cancerBarbara Leube, Matthias Drechsler, Kristina Mühlmann, et al.
Annals of Neurology|March 27, 2012
Mutations in CIZ1 cause adult onset primary cervical dystoniaJianfeng Xiao, Ryan J Uitti, Yu Zhao, et al.
Human Molecular Genetics|April 22, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathiesMenekse Oeztuerk, Sara Walli, David Muhmann, et al.
American Journal of Medical Genetics. Part A|February 28, 2012
A phenotype map for 14q32.3 terminal deletionsHartmut Engels, Herdit M Schüler, Alexander M Zink, et al.
Human Genetics|September 21, 2021
Biallelic variants in YRDC cause a developmental disorder with progeroid featuresJulia Schmidt, Jonas Goergens, Tatiana Pochechueva, et al.
Disease Models & Mechanisms|January 22, 2017
Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's diseaseSuna Lahut, Suzana Gispert, Özgür Ömür, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Nature|September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusSébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.
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