Genetics (Biochemistry, Genetics and Molecular Biology) papers

Pofolia’s corpus holds 23 papers from Genetics (Biochemistry, Genetics and Molecular Biology) (2019–2026), each with a short summary. Below, the 20 most-cited, then the most recently added.

At a glance

• Most cited: The mutational constraint spectrum quantified from variation in 141,456 humans (2020, 10,160 citations).
• The 20 papers listed have 12,563 citations between them.
• 14 of the 19 with a known journal quartile appeared in a Q1 journal.
• 8 have a free full text (open access).
• Most frequent journals: Nature, BMC Genomics, Brain Behavior & Immunity - Health.
• Published between 2019 and 2026.

Most cited

Ranked by citation count. Because citations accumulate over time, this list naturally leans towards work published a few years ago; for where the field is now, see “recently added”. How to read the signals

• The mutational constraint spectrum quantified from variation in 141,456 humans

  Nature · 2020 · Q1 · SJR 19.00 · FWCI 1133.36 · 10,160 citations · Open access

  Researchers quantified the spectrum of human genes' tolerance to inactivation by analyzing loss-of-function variants in over 141,000 individuals.

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• Genome-wide association study identifies 30 loci associated with bipolar disorder

  Nature Genetics · 2019 · Q1 · SJR 15.00 · FWCI 170.36 · 1,646 citations · Open access

  A genome-wide association study (GWAS) identified 30 loci, including 20 novel ones, associated with bipolar disorder in over 50,000 individuals.

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• IQ-TREE 3: phylogenomic inference software using complex evolutionary models

  Molecular Biology and Evolution · 2026 · Q1 · SJR 2.00 · FWCI 1573.16 · 394 citations

  IQ-TREE 3, a major update to the popular phylogenetics software, now infers evolutionary trees using mixture models and quantifies discordance between genomic regions with gene and site concordance factors.

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• Advancing regulatory variant effect prediction with AlphaGenome

  Nature · 2026 · Q1 · SJR 19.00 · FWCI 1156.00 · 228 citations

  AlphaGenome, a novel deep learning model, predicts thousands of functional genomic tracks from 1 Mb DNA sequences at single-base-pair resolution, outperforming existing models in 25 of 26 evaluations.

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• Mapping the genetic landscape across 14 psychiatric disorders

  Nature · 2025 · Q1 · SJR 19.00 · FWCI 84.78 · 108 citations · Open access

  Five genomic factors explain ~66% of the genetic variance across 14 psychiatric disorders (n=1,056,201), identifying 238 pleiotropic loci and revealing distinct biological underpinnings for major disorder groupings.

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• GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients

  Brain Behavior & Immunity - Health · 2024 · Q1 · SJR 1.00 · FWCI 1.68 · 9 citations

  A systematic review of 42 patients with GRM7 gene mutations reveals a spectrum of neurodevelopmental disorders, including intellectual disability, ADHD, and ASD, often accompanied by seizures and brain malformations.

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• Yenidoğan Topuk Kanı Taraması İşlem Basamakları ve Görev Alan Sağlık Çalışanları

  Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi · 2022 · FWCI 0.86 · 6 citations

  This review highlights the critical steps and responsibilities of healthcare professionals in newborn heel blood screening, aiming to improve early detection of congenital metabolic and endocrine disorders.

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• Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

  The American Journal of Human Genetics · 2026 · Q1 · SJR 4.00 · FWCI 5.14 · 2 citations

  Androgens modulate the expression of Pilarowski-Bjornsson syndrome (PILBOS) features, with testosterone rescuing phenotypes in females and orchiectomy unmasking them in males.

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• SPEF1 mediates assembly of central pair microtubule complexes in cilia of Tetrahymena

  Journal of Cell Science · 2026 · Q2 · SJR 1.00 · FWCI 5.04 · 1 citations

  SPEF1 protein is essential for assembling central pair microtubule complexes in cilia, with its loss causing structural defects throughout the ciliary middle segment in Tetrahymena.

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• A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages

  Frontiers in Genetics · 2026 · Q2 · FWCI 5.04 · 1 citations · Open access

  A novel methodological framework is proposed for evaluating the real-world performance of early-stage clinical variant classification platforms, addressing limitations of existing single-source comparison and formal regulatory adjudication methods.

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• Dissecting fluctuating selection: A unified population and quantitative genetics framework

  Genome Biology and Evolution · 2026 · Q1 · SJR 1.00 · 1 citations · Open access

  A new modeling framework integrating quantitative and population genetics, coupled with spectral analysis, identifies conditions and parameters that drive consistent allele frequency oscillations under fluctuating selection.

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• Seasonal fluctuations in fitness result in severe reductions in effective population size

  G3 Genes Genomes Genetics · 2026 · Q2 · FWCI 5.22 · 1 citations · Open access

  Simulations show that seasonally fluctuating selection can reduce effective population size (Nₑ) by ~50% in Drosophila populations, with reductions predictable by the amplitude of allele frequency fluctuations at adaptively fluctuating loci.

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• Deep FLASH-seq profiling of purified canine sensory neurons uncovers species-specific signatures relevant to pain and itch

  Pain · 2026 · Q1 · SJR 2.00 · FWCI 5.10 · 1 citations

  A novel FLASH-seq method for purifying and profiling canine dorsal root ganglion (DRG) neurons reveals conserved and species-specific molecular signatures, identifying IL31RA and SSTR2 expression differences relevant to pain and itch therapeutics.

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• Robust inference and correlates from genetic associations with personality

  Nature · 2026 · Q1 · SJR 19.00 · FWCI 5.22 · 1 citations

  A meta-analysis of 1.14 million individuals identified 1,260 genetic variants linked to the Big Five personality traits, with 824 being novel discoveries.

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• International consensus guidance for general population screening for islet autoantibodies to diagnose early-stage type 1 diabetes: a nominal group technique process

  Diabetologia · 2026 · Q1 · SJR 3.00 · FWCI 5.04 · 1 citations · Open access

  New international consensus guidance outlines principles and minimum requirements for general population screening of islet autoantibodies (IAbs) to detect early-stage type 1 diabetes before clinical onset.

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• ERK-dependent hyperexcitability of BLA neurons projecting to dCA3 underlies social dysfunction in a male mouse model of fragile X syndrome

  EBioMedicine · 2026 · Q1 · SJR 3.00 · FWCI 5.04 · 1 citations

  BLA-dCA3 projecting neurons are hyperactive in male Fmr1 KO mice, and inhibiting this pathway rescues social deficits, while activating it in WT mice impairs social discrimination.

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• Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life

  Neurology · 2026 · Q1 · SJR 2.00 · FWCI 5.04 · 1 citations

  EEGs in children with CDKL5 deficiency disorder (CDD) initially show mild abnormalities that worsen over the first two years of life, correlating with seizure and developmental outcomes.

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• Patient Perspectives to Inform Co-creation of Wearable-Derived Digital Biomarkers for Early Flare Detection and Management in IBD: A Survey-Based Study

  Digestive Diseases and Sciences · 2026 · Q2 · FWCI 5.03 · 1 citations · Open access

  A survey of 1,080 IBD patients found 88% believe remote monitoring for flare detection is useful, with over 90% seeing wearables as supportive, highlighting a strong patient desire for digital health tools.

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• Herpesviridae Reactivation and Therapeutic Outcomes in Patients with Ulcerative Colitis Treated with Tofacitinib

  Journal of Clinical Medicine · 2026 · Q2

  Tofacitinib treatment for ulcerative colitis (UC) led to asymptomatic Herpesviridae (HSV/VZV) reactivation in 33.3% of patients (n=24), with no detected association with clinical disease activity or calprotectin levels.

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• Population genomics unravel structural variation of venom-encoding genes across the desert viper genus Cerastes

  BMC Genomics · 2026 · Q1

  Whole genome sequencing of 27 desert vipers (Cerastes) reveals extensive structural variation in toxin gene regions, suggesting these genomic changes contribute to differences in venom composition.

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Recently added

• Mean fitness is maximized in small populations under stabilizing selection on highly polygenic traits

  Genetics · 2026 · Q1 · SJR 2.00 · Open access

  Mean fitness is maximized by a finite, often small, population size under stabilizing selection on highly polygenic traits when the total mutation rate (U) is sufficiently large (U > σ² / 4(VS + VE)).

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• CiliaIO: Machine learning reveals spatial patterns of cilia beating dynamics in the zebrafish spinal cord

  Development · 2026 · Q1 · SJR 1.00

  A novel machine learning tool, CiliaIO, accurately quantifies motile cilia morphodynamics, revealing subtle regional differences in ciliary waveforms within the zebrafish spinal cord.

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• Genome-wide cross-trait analysis to compare genetic architecture between Parkinson’s disease and kidney-related traits

  Nature Communications · 2026 · Q1 · SJR 4.00

  Genome-wide analysis of Parkinson's disease (PD) and five kidney traits identified shared genetic loci, with four loci implicating BIN3, MSRA, and TNK2 in protein quality control, suggesting a shared genetic basis for the kidney-brain axis in neurodegeneration.

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• Population genomics unravel structural variation of venom-encoding genes across the desert viper genus Cerastes

  BMC Genomics · 2026 · Q1

  Whole genome sequencing of 27 desert vipers (Cerastes) reveals extensive structural variation in toxin gene regions, suggesting these genomic changes contribute to differences in venom composition.

  Go to source →

• Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life

  Neurology · 2026 · Q1 · SJR 2.00 · FWCI 5.04 · 1 citations

  EEGs in children with CDKL5 deficiency disorder (CDD) initially show mild abnormalities that worsen over the first two years of life, correlating with seizure and developmental outcomes.

  Go to source →

• SPEF1 mediates assembly of central pair microtubule complexes in cilia of Tetrahymena

  Journal of Cell Science · 2026 · Q2 · SJR 1.00 · FWCI 5.04 · 1 citations

  SPEF1 protein is essential for assembling central pair microtubule complexes in cilia, with its loss causing structural defects throughout the ciliary middle segment in Tetrahymena.

  Go to source →

• Herpesviridae Reactivation and Therapeutic Outcomes in Patients with Ulcerative Colitis Treated with Tofacitinib

  Journal of Clinical Medicine · 2026 · Q2

  Tofacitinib treatment for ulcerative colitis (UC) led to asymptomatic Herpesviridae (HSV/VZV) reactivation in 33.3% of patients (n=24), with no detected association with clinical disease activity or calprotectin levels.

  Go to source →

• A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages

  Frontiers in Genetics · 2026 · Q2 · FWCI 5.04 · 1 citations · Open access

  A novel methodological framework is proposed for evaluating the real-world performance of early-stage clinical variant classification platforms, addressing limitations of existing single-source comparison and formal regulatory adjudication methods.

  Go to source →

Journals in this field

The journals that publish most of this field’s papers. Quartile (Q1–Q4), SJR and h-index are from SCImago Journal Rank; “in this field” is how many of the journal’s pooled papers belong here. What is a Q1 journal? · What is the h-index?

Every journal in Genetics (Biochemistry, Genetics and Molecular Biology) (Q1–Q4) →

Other subfields in Biochemistry, Genetics and Molecular Biology

• Biochemistry (Biochemistry, Genetics and Molecular Biology)
• Cell Biology
• Clinical Biochemistry
• Molecular Biology

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