Mendelics

Recent papers from Mendelics

1. The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literatureJournal of Neurology · 2026
2. Monoallelic POLR3A Variants Cause Early‐Onset Peripheral NeuropathyAnnals of Neurology · 2026
3. Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settingsFrontiers in Neurology · 2026
4. Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and SeizuresNeurology Genetics · 2026
5. Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disordersMolecular Cell · 2026
6. Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability.2026
7. A Novel Variant in the TAMM41 ‐Associated Mitochondrial MyopathyAmerican Journal of Medical Genetics Part A · 2025
8. High frequency of ABCB4 and ABCB11 gene variants in adult patients with idiopathic chronic or recurrent cholestasisHepatology Communications · 2025
9. Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityThe American Journal of Human Genetics · 2025
10. Chromosome-level comparative genomics and host-specific fungal transcriptomics uncover adaptive virulence strategies in the sugarcane smut pathogenBMC Genomics · 2025
11. Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathyJournal of Clinical Investigation · 2025
12. Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor‐1 Receptor (CSF1R)‐Related DisorderMovement Disorders · 2025
13. Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian CohortClinical Genetics · 2025
14. A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians Using Exome SequencingDiagnostics · 2025
15. A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectivesArquivos de Neuro-Psiquiatria · 2025
16. Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohortScientific Reports · 2025
17. Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishBrain Communications · 2024
18. Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndromeEMBO Molecular Medicine · 2024
19. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersGenetics in Medicine · 2024
20. Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literatureClinical Genetics · 2024