Other observed topics

variants

Observed in 78 articles across 20 journals.

Steady

Latest share0.17%

Change vs baseline-0.07 pp

Months observed13

Latest monthJul 2026

Portfolio article share

Attention over this snapshot

13 monthly points

Journal breadth

Where it appears

Journal of Medical Genetics44
Heart6
Journal of Clinical Pathology3
Lupus Science & Medicine3
BMJ Connections Clinical Genetics and Genomics2
BMJ Open Ophthalmology2
European Journal of Hospital Pharmacy2
Journal of Neurology, Neurosurgery & Psychiatry2
Occupational and Environmental Medicine2
Open Heart2
BMJ1
BMJ Case Reports1

Co-occurrence

Explore nearby topics

Inspect the source signal

Article evidence

30 high-ranking examples

Heart · 2025-08-13

BS32 Biophysical and functional characterisation of alpha-actinin-2 variants in hypertrophic cardiomyopathy

Phrase rank #1 · DOI 10.1136/heartjnl-2025-BCS.261

Heart · 2025-08-13

B Biophysical and functional characterisation of alpha-actinin-2 variants in hypertrophic cardiomyopathy

Phrase rank #1 · DOI 10.1136/heartjnl-2025-BCS.282

Journal of Neurology, Neurosurgery & Psychiatry · 2026-03-13

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

Phrase rank #2 · DOI 10.1136/jnnp-2025-336643

Lupus Science & Medicine · 2026-03-01

PO:06:174 Additive effects of genetic variants in NADPH oxidase 2 complex in systemic lupus erythematosus, secondary antiphospholipid syndrome and Sjögren’s disease

Phrase rank #2 · DOI 10.1136/lupus-2026-el.236

Journal of Medical Genetics · 2026-01-28

P1 PUF60 mutations and ciliopathies: a shared molecular mechanism?

Phrase rank #2 · DOI 10.1136/jmg-2026-BSGM25.11

Journal of Medical Genetics · 2026-01-20

Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants

Phrase rank #2 · DOI 10.1136/jmg-2025-110679

BMJ Open Diabetes Research & Care · 2025-12-31

Identification and characterization of novel PAX4 variants in patients with suspected MODY9

Phrase rank #2 · DOI 10.1136/bmjdrc-2025-005375

BMJ Open Ophthalmology · 2025-10-10

#ECR-Paper-04 Genotype-phenotype correlation of CYP1B1 variants

Phrase rank #2 · DOI 10.1136/bmjophth-2025-UKEGG.4

Journal of Medical Genetics · 2026-06-09

Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution

Phrase rank #3 · DOI 10.1136/jmg-2025-111449

Journal of Medical Genetics · 2025-11-21

Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

Phrase rank #3 · DOI 10.1136/jmg-2025-110783

BMJ Public Health · 2025-11-13

Associations between social determinants of health and COVID-19 outcomes by variants of concern: a Bayesian spatiotemporal analysis

Phrase rank #3 · DOI 10.1136/bmjph-2025-002918

BMJ Connections Clinical Genetics and Genomics · 2025-11-07

Pathogenic variants in medically actionable genes among women with Mayer-Rokitansky-Küster-Hauser syndrome

Phrase rank #3 · DOI 10.1136/bmjccgg-2024-000004

Open Heart · 2025-10-10

PCSK9 genetic variants, carotid atherosclerosis and vascular remodelling

Phrase rank #3 · DOI 10.1136/openhrt-2025-003348

Journal of Medical Genetics · 2025-09-19

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations

Phrase rank #3 · DOI 10.1136/jmg-2025-110658

Journal of Medical Genetics · 2025-07-21

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations

Phrase rank #3 · DOI 10.1136/jmg-2025-110671

Journal of Medical Genetics · 2026-06-25

Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2

Phrase rank #4 · DOI 10.1136/jmg-2025-111282

Journal of Medical Genetics · 2026-03-20

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension

Phrase rank #4 · DOI 10.1136/jmg-2025-111027

European Journal of Hospital Pharmacy · 2026-03-18

4CPS-164 Allelic frequency of CYP2D6, CYP2C9, CYP2C19, and CYP3A4 genetic variants in patients treated with antipsychotics and antidepressants

Phrase rank #4 · DOI 10.1136/ejhpharm-2026-eahp.266

Lupus Science & Medicine · 2026-03-01

PO:06:173 Comparative analysis of AI-assisted and expert-guided whole-exome sequencing in lupus-causing genes

Phrase rank #4 · DOI 10.1136/lupus-2026-el.235

Journal of Medical Genetics · 2026-01-28

P31 UK guidance for analysis and reporting of ATM variants ascertained through cancer indications

Phrase rank #4 · DOI 10.1136/jmg-2026-BSGM25.39

Journal of Medical Genetics · 2025-07-21

Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss

Phrase rank #4 · DOI 10.1136/jmg-2024-110425

Journal of Medical Genetics · 2026-06-29

Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot

Phrase rank #5 · DOI 10.1136/jmg-2026-111657

Journal of Medical Genetics · 2026-04-20

Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies

Phrase rank #5 · DOI 10.1136/jmg-2025-111029

Journal of Medical Genetics · 2025-11-21

Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism

Phrase rank #5 · DOI 10.1136/jmg-2025-110855

Journal of Medical Genetics · 2025-10-20

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration

Phrase rank #5 · DOI 10.1136/jmg-2025-110681

BMJ Open Ophthalmology · 2025-10-10

#ECR-Paper-02 Investigating splice defects in PRPF31 transcripts using targeted long-read sequencing

Phrase rank #5 · DOI 10.1136/bmjophth-2025-UKEGG.2

Heart · 2025-08-13

1-026 Evaluating the pathogenic potential of a variant of unknown significance in filamin C

Phrase rank #5 · DOI 10.1136/heartjnl-2025-BCS.24

Journal of Medical Genetics · 2026-07-16

Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants

Phrase rank #6 · DOI 10.1136/jmg-2025-110638corr1

Journal of Medical Genetics · 2026-07-06

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability

Phrase rank #6 · DOI 10.1136/jmg-2026-111615

Journal of Medical Genetics · 2026-07-06

Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction

Phrase rank #6 · DOI 10.1136/jmg-2025-111109