1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
3 citations
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February 2024 in “Forensic Sciences Research” In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study developed a partially automated protocol utilizing hair follicles for DNA extraction in marmosets, achieving reliable whole genome sequencing with low chimerism, offering an efficient alternative to blood for genetic studies in non-human primates.
51 citations
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September 2020 in “Nucleic Acids Research” This article introduces signatureSearch, a software package designed for gene expression signature searching and functional enrichment analysis, but reports no new clinical results.
December 2023 in “Forensic science international. Genetics” This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.
July 2026 in “Journal of Investigative Dermatology”
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
24 citations
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March 2022 in “Genome biology” This study introduces scINSIGHT, a method that showed improved performance over existing approaches in identifying gene expression patterns and cellular processes in heterogeneous scRNA-seq datasets from different biological conditions.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
30 citations
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May 2020 in “Forensic Science International Genetics” This study found that optimizing proteomic genotyping conditions from single human hair samples significantly improves the detection of genetically variant peptides, enhancing human identification with high precision across different biogeographic backgrounds.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
5 citations
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May 2024 in “Current Issues in Molecular Biology” This review highlights advancements in applying single-cell sequencing to cattle, sheep, and goats, noting its potential to elucidate cellular diversity and improve traits affecting livestock health and productivity, despite challenges in cell population annotation and spatial resolution in these species.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
10 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
2 citations
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February 2024 in “STAR Protocols” In this research, an optimized protocol was developed for dissociating human scalp tissue to produce high-quality single-cell suspensions suitable for single-cell RNA sequencing, aimed at studying the transcriptomics of human hair follicles.
April 2023 in “Journal of Investigative Dermatology” This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.
December 2025 in “BMC Medical Genomics” This study demonstrated that RNA-seq can effectively expand hair follicle transcriptomic profiling in a multi-center study, offering deeper insights than blood transcriptomics alone.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
2 citations
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July 2025 in “Analytical Chemistry” This study reported the development of a workflow that combines SIMS and X-ray elemental mapping techniques for multimodal imaging at the single cell level, successfully applied to visualize elements, metals, and lipids in porcine skin without loss or delocalization.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study developed a new method using ultrahigh-power sonication and mass spectrometry to improve protein extraction from hair shafts, identifying 239 differentially expressed proteins related to fetal growth restriction, which were validated as potential noninvasive biomarkers for perinatal diagnostics.
July 2024 in “Journal of Investigative Dermatology”
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study generated a transcriptomic map of human hair follicles, identifying compartment-specific gene expression profiles that can aid in developing targeted therapies for hair follicle disorders.
June 2025 in “Rapid Communications in Mass Spectrometry” In this study, researchers developed a simplified and reliable method to prepare human hair shaft samples, achieving over 75% protein extraction efficiency and improved keratin sequence coverage, with the approach showing high reproducibility across different labs and operators.
September 2023 in “Animals” In this study, researchers conducted whole-genome resequencing of eight sheep breeds to identify additional genes associated with wool fineness, revealing 269 genes in fine wool and 319 in coarse wool breeds that are linked to significant traits and pathways.
45 citations
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December 2004 in “Forensic Science International” This study reports that using laser microdissection to isolate telogen hair follicles significantly improves DNA extraction efficiency for STR typing, reducing contamination from keratin.
November 2024 in “Journal of Investigative Dermatology” The research aims to better understand hair follicle regulation and find new treatments for hair loss.
6 citations
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March 2014 in “Livestock science” This study successfully constructed a skin cDNA library from the Liaoning cashmere goat during follicle anagen and identified two genes with significant expression in heart, skin, and hair follicles.