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André Reis

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
2024 · Dmitrijs Rots, Arianne Bouman, et al. · The American Journal of Human Genetics · 23
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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
2024 · Giovanna Carpentieri, Serena Cecchetti, et al. · Human Genetics and Genomics Advances · 7
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype
2025 · Esin Nur Erdogan, Chi Vicky Cheng, et al. · American Journal of Medical Genetics Part A · 3
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Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
2026 · Cyril Mignot, Matthildi Athina Papathanasiou Terzi, et al. · Movement Disorders · 2
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
2026 · Camille Engel, Michaela Rendek, et al. · European Journal of Human Genetics
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Additional file 2 of Genetic liability to psoriasis predicts severe disease outcomes
2026 · Saklatvala, Jake R., Lessard, Samuel, et al. · Figshare
Genetic liability to psoriasis predicts severe disease outcomes
2026 · Saklatvala, Jake R., Lessard, Samuel, et al. · Figshare
Additional file 1 of Genetic liability to psoriasis predicts severe disease outcomes
2026 · Saklatvala, Jake R., Lessard, Samuel, et al. · Discovery Research Portal (University of Dundee)
Novel COL4A1 missense variant in a case of juvenile stroke
2025 · Alexandra Kretz, Mareike Arbeiter, et al. · Journal of Stroke and Cerebrovascular Diseases
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Works count: 9
Citation count: 35
H-index: 3
I10-index: 1
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