POLR3A — Neuropathie périphérique liée au complexe ARN polymérase III. Ann Neurol 2026. PMID 42260910. Score 10/10. https://onlinelibrary.wiley.com/doi/10.1002/ana.78268
ASS1 — Citrullinémie type 1 — classification fonctionnelle des variants. PLoS Genet 2026. PMID 42308225. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42308225/
Maladies métaboliques actionnables précocement — dépistage de porteurs. Genet Med 2026. PMID 42299740. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42299740/
RNU4ATAC — RNU4ATAC-opathies — spectre clinique étendu. Genet Med 2026. PMID 42322192. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42322192/
KCNQ2 — Encéphalopathies développementales et épileptiques précoces avec burst-suppression (EIDEE-BS). Neurology 2026. PMID 42190144. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42190144/
Long-read sequencing — préservation ADN à température ambiante. Genome Biol 2026. PMID 42298673. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42298673/
Syndrome de Beckwith-Wiedemann / Hyperinsulinisme congénital. J Clin Endocrinol Metab 2026. PMID 41655234. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41655234/
TRIB1AL — Stéatohépatite métabolique (MASLD) — cible thérapeutique ARNnc. J Clin Endocrinol Metab 2026. PMID 41635218. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41635218/
RNU4ATAC — RNU4ATAC-opathie — grande cohorte internationale. Genet Med 2026. PMID 42322193. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42322193/
Dystrophies rétiniennes héréditaires — gènes à double pattern d'hérédité. J Med Genet 2026. PMID 42321002. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42321002/
RUNX1 — Trouble plaquettaire familial avec prédisposition aux hémopathies malignes (FPDMM). Blood Adv 2026. PMID 42308221. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42308221/
GAA — Maladie de Pompe — pseudodéficience GAA en populations d'Asie orientale. Mol Genet Metab 2026. PMID 42320386. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42320386/
Architecture génétique — interaction variants rares/communs. Am J Hum Genet 2026. PMID 42330953. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42330953/
Dépistage néonatal génomique — pénétrance à long terme. medRxiv 2026. PMID 42326822. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42326822/
POLD1 — Maladie de Huntington — modificateurs génétiques de l'âge d'apparition. medRxiv 2026. doi:10.64898/2026.06.16.26354747. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.06.16.26354747v1
AIRE — Syndrome polyendocrinien auto-immun type 1 (APS-1). J Clin Endocrinol Metab 2026. PMID 41678364. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41678364/
ANKRD11 — Syndrome KBG / Épilepsie liée à ANKRD11. Epilepsia 2026. PMID 42322264. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/epi.70351
LRP2 — Syndrome de Donnai-Barrow. JCI Insight 2026. PMID 42024452. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42024452/
Cardiomyopathie arythmogène — variants d’épissage non-canonique. J Transl Med 2026. PMID 42323666. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42323666/
Rendement diagnostique WES/WGS en néonatologie et pédiatrie critiques. Genet Med 2026. PMID 42267533. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42267533/

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Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome

Integrative genetic and liver transcriptomic analyses identify TRIB1AL as a target for steatotic liver disease

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry

Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder

High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Molecular Diagnostic Yield of Exome Sequencing and Genome Sequencing in Critically Ill Neonates and Infants: A Systematic Review and Meta-Analysis

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway

Insights into ANKRD11-related epilepsy from 163 people

Failure of endocytic flux in Donnai-Barrow syndrome caused by LRP2 p.C1400R

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden

References et sources