Adenine AI: Evidence For Genomic Medicine Powered By AI

Aggregated and new evidence added to Adenine AI

Evidence type	Total	YTD	Month	Week
Case Reports	95,458	4,581	1,610	44
Case Series	180,255	7,034	2,618	87
Assay Reports	114,490	5,668	1,801	65
Somatic Fusions	17,592	1,056	310	12
Somatic Cohort	61,300	3,649	1,241	40

Articles we just added to the collection, straight from the latest literature.

Case Report

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous LHCGR splice-site variant.

2026 JCEM case reports PMID: 42273278

HGNC:6585 MONDO_0020040
Case Report

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

2026 Molecular biology reports PMID: 42268463

HGNC:4689 HGNC:7606 MONDO_0018998
Case Series

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.

2026 Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis PMID: 42261741

HGNC:6138 HGNC:6156 MONDO_0100326
Case Series

Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency.

2026 Molecular genetics and metabolism PMID: 42259017

HGNC:12404 MONDO_0010188
Functional Assay

Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes.

2026 Human molecular genetics PMID: 42262227

HGNC:5173 MONDO_0009026
Functional Assay

Novel Biallelic TECRL Gene Variants Associated with Familial Catecholaminergic Polymorphic Ventricular Tachycardia in A Chinese Family with A History of Sudden Cardiac Death.

2026 The Tohoku journal of experimental medicine PMID: 40930787

HGNC:27365 MONDO_0017990
Somatic Fusion

Acquired BRAF-AGK Fusion Following Osimertinib Plus Savolitinib in EGFR-Mutated MET-Amplified Non-Small-Cell Lung Cancer: Durable Response to Gefitinib and Trametinib in a Case Report.

2026 OncoTargets and therapy PMID: 42267361

HGNC:1097 HGNC:21869
Somatic Fusion

Mesenchymal neoplasms with RAF/BRAF alterations: eight cases revealing novel fusions, V600E mutation and clonal evolution.

2026 Journal of clinical pathology PMID: 42236131

HGNC:9829 HGNC:1097 HGNC:29112 HGNC:26105 MONDO_0003359
Somatic Cohort

Molecular Profiling and Real-world Outcomes of BRAF V600E-Mutated Papillary Thyroid Cancer.

2026 Clinical cancer research : an official journal of the American Association for Cancer Research PMID: 41543354

HGNC:1097 HGNC:11730 HGNC:7989 HGNC:5173 HGNC:6407 HGNC:9967 MONDO_0005075 MONDO_0015447
Somatic Cohort

Survival analysis and prognostic factors in advanced NSCLC harboring EGFR PACC mutations: A multicenter retrospective study.

2026 Lung cancer (Amsterdam, Netherlands) PMID: 41747608

HGNC:3236 MONDO_0005233