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Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
The Journal of Allergy and Clinical Immunology|April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitisJorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
Plos Genetics|October 11, 2008
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locusStephan Weidinger, Christian Gieger, Elke Rodriguez, et al.
Annals of Clinical and Translational Neurology|March 19, 2021
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorderTanja Schmitz-Hübsch, Silke Lux, Peter Bauer, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Parkinsonism & Related Disorders|July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) studySaar Anis, Caroline Weill, Penina Ponger, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
The Lancet. Neurology|April 13, 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analysesEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
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