POLR3A — RNA Polymerase III-related peripheral neuropathy. Ann Neurol 2026. PMID 42260910. Score 10/10. https://onlinelibrary.wiley.com/doi/10.1002/ana.78268
ASS1 — Citrullinemia type 1 — functional variant classification. PLoS Genet 2026. PMID 42308225. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42308225/
Early actionable metabolic conditions — reproductive carrier screening. Genet Med 2026. PMID 42299740. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42299740/
RNU4ATAC — RNU4ATAC-opathies — expanded clinical spectrum. Genet Med 2026. PMID 42322192. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42322192/
KCNQ2 — Early infantile developmental and epileptic encephalopathies with burst-suppression (EIDEE-BS). Neurology 2026. PMID 42190144. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42190144/
Long-read sequencing — ambient temperature DNA preservation. Genome Biol 2026. PMID 42298673. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42298673/
Beckwith-Wiedemann syndrome / Congenital hyperinsulinism. J Clin Endocrinol Metab 2026. PMID 41655234. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41655234/
TRIB1AL — Metabolic steatohepatitis (MASLD) — noncoding RNA therapeutic target. J Clin Endocrinol Metab 2026. PMID 41635218. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41635218/
RNU4ATAC — RNU4ATAC-opathy — large international cohort. Genet Med 2026. PMID 42322193. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42322193/
Inherited retinal diseases — genes with dual inheritance patterns. J Med Genet 2026. PMID 42321002. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42321002/
RUNX1 — Familial platelet disorder with myeloid malignancies (FPDMM). Blood Adv 2026. PMID 42308221. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42308221/
GAA — Pompe disease — GAA pseudodeficiency in East Asian populations. Mol Genet Metab 2026. PMID 42320386. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42320386/
Genetic architecture — rare/common variant interactions. Am J Hum Genet 2026. PMID 42330953. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42330953/
Genomic newborn screening — long-term penetrance. medRxiv 2026. PMID 42326822. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42326822/
POLD1 — Huntington's disease — genetic modifiers of age at onset. medRxiv 2026. doi:10.64898/2026.06.16.26354747. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.06.16.26354747v1
AIRE — Autoimmune polyendocrine syndrome type 1 (APS-1). J Clin Endocrinol Metab 2026. PMID 41678364. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41678364/
ANKRD11 — KBG syndrome / ANKRD11-related epilepsy. Epilepsia 2026. PMID 42322264. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/epi.70351
LRP2 — Donnai-Barrow syndrome. JCI Insight 2026. PMID 42024452. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42024452/
Arrhythmogenic cardiomyopathy — non-canonical splicing variants. J Transl Med 2026. PMID 42323666. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42323666/
WES/WGS diagnostic yield in critically ill neonates and infants. Genet Med 2026. PMID 42267533. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42267533/

Previous week

16 June 2026

Week of 23 June 2026

Key takeaways this week

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 and sources