جستجوی استاد راهنمای دانشگاهی

Professor Colin Semple is a leading researcher at the University of Edinburgh's Institute of Genetics and Cancer (IGC), where he serves as Group Leader and Head of Bioinformatics. His work is conducted within the MRC Human Genetics Unit, focusing on computational genomics and the analysis of structural mutations in both germline and cancer contexts. Professor Semple's research investigates the origins and impacts of structural mutations in the human genome, with particular emphasis on how these alterations affect gene function in developmental contexts and drive cancer progression. His group studies complex structural rearrangements in challenging cancer types including ovarian cancer, glioblastoma, and mesothelioma, where tumor genomes undergo dramatic reorganization. The research is guided by four key questions: What are the origins of structural mutations? How do they impact gene function? How does structural complexity drive disease progression? How do diverse mutational constellations combine to create adaptations and vulnerabilities? Analysis of Professor Semple's publications reveals a consistent focus on structural variation in cancer genomics, with particular attention to ovarian cancer mechanisms, lesion segregation in tumor evolution, and the functional consequences of genomic rearrangements. His work frequently employs whole genome sequencing approaches to uncover previously hidden layers of genomic variation that affect more of the genome than traditional short variants. Professor Semple leads a substantial research team including bioinformaticians and PhD students, and oversees the Bioinformatics Analysis Core which provides collaborative expertise to over 500 researchers at the IGC. His group maintains strong collaborations with both local researchers at the University of Edinburgh and international consortia, working closely with clinicians to translate genomic findings into potential diagnostic and therapeutic approaches. The Semple Lab is funded by major organizations including the Medical Research Council (MRC), Cancer Research UK (CRUK), and the Chief Scientist Office (CSO).

• Cancer genomics
• Structural mutations
• Molecular evolution
• +۵ مورد دیگر

Colin Cooper is a Professor of Cancer Genetics at the Norwich Medical School, University of East Anglia. He is also a member of the Metabolic Health and Cancer Studies research groups. His work focuses on genomic evolution, tumor microbiome dynamics, and biomarker development for prostate cancer and musculoskeletal health. Cooper’s recent research explores the interplay between cancer genetics and microbial communities, emphasizing their role in prognosis and treatment outcomes. He investigates clonal evolution in tumors, mutational signatures, and non-invasive diagnostic tools like urinary extracellular vesicles. His collaborations span genomics, microbiology, and clinical applications. 2025: Causes of evolutionary divergence in prostate cancer (Genomics, Precision Medicine) 2024: Applications of urinary extracellular vesicles... (Biomarker Development, Liquid Biopsy) 2023: Caution regarding pan-cancer microbial structure (Methodological Considerations, Microbiome Analysis) In 2022, Cooper received the European Urology Oncology SoMe Award for his contributions. His work is frequently cited and has been featured in media outlets globally, highlighting his impact on cancer and aging research.

• Cancer Genetics
• Prostate Cancer
• Genomic Evolution
• +۵ مورد دیگر

Ueli Grossniklaus is an Ordinary Professor at the University of Zurich within the Faculty of Mathematical and Natural Sciences , affiliated with the Department of Plant and Microbiology . His work focuses on plant developmental biology, particularly epigenetic and genetic mechanisms governing reproduction and adaptation. Key Courses: Epigenetics, Plant Biology Workshop, Group Seminars on Current Research Laboratory Techniques: Advanced methods in plant cell mechanics, transcriptomics, and genome editing Research Interests span plant epigenetics, reproductive biology, and the interplay between environmental stress and genetic regulation. He investigates: Mechanistic control of gametogenesis and fertilization Epigenetic contributions to plant adaptation Evolutionary implications of asexual reproduction Biophysical forces in plant cell growth Publication Trends (2025–2018) reveal expertise in: Arabidopsis and fern model systems Epigenetic regulation (DNA methylation, histone dynamics) Apomixis and hybrid seed failure mechanisms Biomechanics of pollen tubes and carnivorous plants Genome editing tools (CRISPR) and long-read sequencing Scientific Collaborations include interdisciplinary projects on: Microfluidic devices for plant cell analysis Gene drive ecology and ethics 3D imaging of plant reproductive structures Advising and Grants focus on mentoring through research internships in developmental biology, genetics, and systems biology. His lab engages in: Epigenetic response to environmental stress Cell wall mechanics in reproduction Computational modeling of plant growth Laboratory Teams integrate plant biologists, bioengineers, and computational scientists to study: Mechanistic gene regulation Evolutionary developmental biology Microrobotics for cellular force measurement

• Plant Developmental Biology
• Epigenetics
• Plant Genetics
• +۵ مورد دیگر

Lambertus (Bart) Kiemeney is a Professor of Cancer Epidemiology and Chair of the Department for Health Evidence at Radboud University Medical Center (Radboudumc). As Scientific Director of the Radboud Institute for Health Sciences since 2012, he leads one of Radboudumc’s three major research institutes. His career spans clinical epidemiology, genetic epidemiology, and urological cancer research, with over 500 peer-reviewed publications and 25 book chapters. MSc in Biomedical Sciences (1988), PhD in Epidemiology (1992) from Radboud University Postdoctoral training at Johns Hopkins University and Fred Hutchinson Cancer Research Center (1992-1994) Kiemeney’s research focuses on the genetic and clinical epidemiology of bladder and prostate cancer , emphasizing genome-wide association studies (GWAS) and environmental risk factors. His work has identified key genetic loci (e.g., FGFR3, SLC14A1) and challenged assumptions about hereditary cancer screening and biomarker validity. Publications highlight his leadership in genetic epidemiology , including the first bladder cancer GWAS (2008) and large-scale replication studies (2014-2016). Trends include mechanistic research on urine concentration effects (2011), antioxidant risk factors (2012), and clinical translation of biomarkers (2015). Scientific Awards: 2014: Thomson Reuters’ “World’s Most Influential Scientific Minds” 2013: Dominique Chopin Distinguished Researcher Award (ESUR) 2012: Eminent Scholar at COMSATS Institute 2003-2004 & 2002: Multiple “Lecturer of the Year” awards 1992: Netherlands Cancer Society Fellowship 1983-1988: Cum Laude degrees in Physiotherapy and Biomedical Sciences As coordinator of the EU 7th Framework Programme project on renal cell cancer, Kiemeney has shaped international research collaborations. His work on coal tar safety (2010) resolved long-standing clinical concerns in dermatology.

• Biobanking
• Urological cancers
• Clinical epidemiology
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Professor Annette Byrne is a leading academic at RCSI University of Medicine and Health Sciences , where she serves as Professor of Physiology and Head of the Precision Cancer Medicine (PCM) Group. She has held this position since 2019 after progressing through roles as Lecturer (2008), Senior Lecturer (2013), and Associate Professor (2017). Her research focuses on precision medicine approaches for colorectal and brain cancers , integrating multi-modality molecular imaging , Next Generation Sequencing , and patient-derived xenograft models . PhD in Cell Biology (University of York, 1999) John Kerner Fellowship in Gynaecologic Oncology (UCSF, 1999-2001) Scientist at Pharmacyclics Inc. (2001-2003) Senior Scientist at Angion Biomedica Corp. (2003-2005) Principal Investigator at UCD Conway Institute (2005-2008) Her research interest lies in precision cancer medicine , particularly elucidating predictive biomarkers (genomic, transcriptomic, proteomic) and identifying novel therapeutic targets . Key methodologies include radiomics , fluorescence-guided surgery , and systems modeling of apoptosis pathways. She has pioneered Ireland's first Tumour Xenograft Facility and Translational In Vivo Imaging Centre . Recent publications highlight her work on cross-species radiomics , cell-free DNA analysis , and glioblastoma microenvironment subtyping . Her Marie Curie networks (Gliotrain, Glioresolve) and COLOSSUS project have trained 25+ PhD researchers in brain cancer therapeutics. Over €45M in national/international grants Member of Royal Irish Academy (2025) Highly cited in Cancer Discovery , Annals of Oncology , and Nature journals She supervises multiple PhD candidates and leads the RCSI Precision Cancer Medicine Group , which utilizes computational approaches and molecular imaging to improve cancer treatment outcomes. Her GLIORESOLVE and EDIReX projects focus on tumor microenvironment manipulation and distributed PDX infrastructure.

• Precision Medicine
• Molecular Imaging
• Angiogenesis
• +۷ مورد دیگر

Dr. Steven Jacobsen is a Professor in the Molecular, Cell, and Developmental Biology Department at the University of California, Los Angeles (UCLA), where he leads the Jacobsen Lab. His work focuses on epigenetic inheritance and gene regulation in Arabidopsis thaliana and mammalian stem cells, utilizing genetic screens, genomics, epigenomics, and biochemical approaches. The lab also pioneers CRISPR-mediated genome editing techniques. University: University of California, Los Angeles Department: Molecular, Cell, and Developmental Biology Research Interests: Jacobsen's research spans multiple interconnected domains in epigenetics, including DNA methylation patterning, histone modification interplay, and transposable element silencing. His team investigates how chromatin structure influences gene expression and epigenetic inheritance, with applications from plant development to human health. Key areas include: CRISPR-based epigenetic modifications RNA-directed DNA methylation (RdDM) mechanisms Chromatin compaction via MORC proteins Histone variant functions in methylation Transposon control in plant genomes Comparative epigenomics across species Advising Legacy: Over two decades, Dr. Jacobsen has mentored 21 former lab members who now hold academic and industry positions globally, including professors at Chinese Academy of Sciences, University of Georgia, and Southern University of Science & Technology. His lab's publications reveal a consistent focus on DNA methylation dynamics, chromatin remodeling, and small RNA pathways, with recent work emphasizing CRISPR innovations and structural insights into epigenetic regulators.

• Epigenetics
• Epigenomics
• Genetics
• +۴ مورد دیگر

Maureen Sartor is a Professor in the Department of Computational Medicine and Bioinformatics at the University of Michigan Medical School. Her work bridges computational biology, epigenetics, and cancer research, with recent contributions to understanding environmental toxicant impacts on DNA methylation, HPV-associated head and neck cancers, and neurodegenerative disease mechanisms. Key research themes: Epigenetic regulation, bioinformatics modeling, environmental health Active clinical trial collaborations in immunotherapy rechallenge and neoadjuvant treatment strategies Leadership in cross-species toxicoepigenetic studies and microbiome-immune crosstalk in oral cancer Recent publications highlight her expertise in: Epigenetic age acceleration in ALS and its environmental correlates HPV integration mechanisms in oropharyngeal cancer Chemical oxidation techniques for piRNA discovery Sex-specific epigenetic responses to lead and phthalate exposure Her interdisciplinary approach connects computational methods with experimental validation across multiple disease models.

• Epigenetics
• Bioinformatics
• Cancer Research
• +۷ مورد دیگر

Martyn T. Smith is a Professor of Toxicology and the Kenneth Howard and Marjorie Witherspoon Kaiser Endowed Chair in Cancer Epidemiology at the University of California, Berkeley. He has led the Superfund Research Program (SRP) Center at Berkeley since 1987, a flagship NIH-funded program focusing on toxic waste site remediation and the exposome paradigm. His research spans molecular epidemiology, toxicology, and genomics, with a focus on chronic diseases like cancer and diabetes. Education: BSc in Biology (Queen Elizabeth College, 1977), PhD in Biochemistry (Medical College of St. Bartholomew's Hospital, 1980), Postdoc in Toxicology (Karolinska Institute, 1981). Awards: AAAS Fellow, 2010 Children’s Environmental Health Network Award, 2024 Stokinger Award (ACGIH). Teaching: Courses include Advanced Toxicology and Health Risk Assessment. Dr. Smith’s research emphasizes the exposome approach to assess cumulative environmental risks, particularly from chemicals like arsenic, benzene, and PFAS. His team combines biomedicine and engineering to address complex environmental health challenges. Grants & Labs: The SRP Center, funded at ~$2.15M annually, includes 6 projects and 5 cores targeting hazardous site remediation. Collaborations focus on translational research and community engagement. Future Work: Expanding exposomics applications to improve risk assessment and remediation strategies for multi-chemical contaminated sites.

• Molecular Epidemiology
• Toxicology
• Genomics
• +۳ مورد دیگر

Weerachai Jaratlerdsiri is a Research Fellow at the School of Medical Sciences , Faculty of Medicine and Health , University of Sydney . He is also a member of the University of Sydney Nano Institute and leads bioinformatics initiatives at the Charles Perkins Centre . His work focuses on genomics , prostate cancer , and health disparities in underrepresented populations. PhD in Comparative Genomics (University of Sydney, 2014) Postdoctoral Fellow at Australian Prostate Cancer Research Centre Co-Investigator for US Department of Defense Prostate Cancer Research Programs Developed frameworks for personalized genomics in cancer disparities His research interrogates "Big Data" genomics to uncover genetic and environmental factors influencing prostate cancer in African and other underrepresented populations. He has identified ancestral heritage connections to aggressive cancer and environmental effects on ethnic groups. His work spans computational biology , epigenetics , and translational research . His publications from 2014–2025 emphasize African-ancestral disparities , oncogenic drivers , mitochondrial genomics , and epigenetic machinery . Key journals include Nature , Science , and Cancer Discovery , often in collaboration with global institutions across Australia, South Africa, the UK, and the US. Scientific recognition includes: Best early-career presentation at the Australasian Genomic Technologies Association Conference FMH Showcase Travel Award 2023 (Faculty of Medicine and Health) Dr. Jaratlerdsiri supervises Ruotian HUANG and Jue JIANG , who investigate telomere length and genomic processes in prostate cancer. He collaborates with the Hayes Lab and the ICGC Pan-Prostate Cancer group to harmonize global genomic data from over 2,000 patients.

• Bioinformatics
• Prostate Cancer
• Genetics
• +۵ مورد دیگر

Dr. Hilary Martin is a Group Leader in Human Genetics at the Wellcome Sanger Institute and a College Research Associate at St John's College, Cambridge. Her research focuses on medical and population genomics, analyzing high-throughput sequence and genotype data from large cohorts to address various medical and population genetic questions. She leads the Martin Group which studies the genetic architecture of rare and common disorders in diverse populations, with particular emphasis on populations with high levels of parental relatedness. BSc (Human Genetics) from the University of Queensland, Australia PhD from the Wellcome Trust Centre for Human Genetics in Oxford Postdoctoral research at Sanger Institute with Jeff Barrett Group Leader at Sanger Institute since September 2018 Dr. Martin's research program spans several key areas in human genetics. Her group analyzes large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. A particular focus is on populations with high levels of parental relatedness (consanguinity), where her team investigates how autozygosity affects disease risk across the phenotypic spectrum. Her work on developmental disorders examines the role of rare recessive variants and polygenic risk, while her research with South Asian populations explores the genetic basis of cardiometabolic diseases. Analyzing her recent publications reveals a strong trend toward multi-ancestry studies, particularly focusing on British Pakistani and Bangladeshi populations through the Genes & Health project. Her research increasingly integrates rare variant analysis with polygenic risk scores to understand the full genetic architecture of complex traits. There's also a growing emphasis on understanding how population structure, consanguinity, and founder effects influence disease risk across diverse populations. Her work bridges fundamental population genetics with clinical applications, particularly in neurodevelopmental disorders and cardiometabolic diseases. Extensive publication record in top journals including Nature, Cell, and Nature Genetics Leadership in major collaborative projects like Deciphering Developmental Disorders (DDD) Key contributions to understanding the role of consanguinity in disease architecture Development of methods for analyzing recessive variants in diverse populations Dr. Martin leads a dynamic research group comprising PhD students, postdoctoral fellows, and staff scientists. Her group works closely with multiple large-scale studies including the Avon Longitudinal Study of Parents and Children (ALSPAC), Millennium Cohort Study, Born in Bradford, Deciphering Developmental Disorders study, Genomics England, and Genes & Health. She maintains strong collaborations with clinical and research teams across the UK and internationally, particularly with groups studying South Asian populations. Her research has secured significant funding through institutional support and collaborative grants that enable large-scale genomic analyses. The Martin Group operates within the Human Genetics Programme at the Wellcome Sanger Institute, maintaining close ties with the Hurles Group and other related teams. They collaborate extensively with the East London Genes and Health project, which is one of the world's largest community-based genetics studies focusing on people of Pakistani and Bangladeshi heritage. The group maintains strict data security and confidentiality procedures while working closely with the communities they study through community engagement and dissemination of scientific findings.

• Medical Genomics
• Population Genetics
• Genetic Architecture of Diseases
• +۶ مورد دیگر

Louis Lambrechts is a Researcher and Head of the Insect Infection & Immunity Group at the Institut Pasteur in Paris, France, within the Department of Virology. His research focuses on the ecology, evolution, and genetics of mosquito-virus interactions, particularly involving Aedes aegypti and arboviruses such as dengue and Zika. He leads a dynamic research team and multiple national and international projects funded by agencies including ANR and EU consortia. His research interests include arbovirus transmission dynamics, vectorial capacity, mosquito genetics, evolutionary ecology, host-pathogen interactions, and the role of microbiota in vector competence. He employs genomics, quantitative genetics, and experimental evolution to understand the mechanisms underlying variation in mosquito susceptibility to viral infection. His work has important implications for predicting and controlling arboviral disease outbreaks. Lambrecht’s recent publications reveal key insights into the genetic and environmental factors influencing arbovirus transmission, including the role of mosquito population variation in Zika transmission in Africa, the impact of endogenous viral elements, and the discovery of antiviral roles for cytochrome P450 enzymes. His research integrates molecular biology, field studies, and computational modelling, contributing to a comprehensive understanding of vector-borne disease systems. He has mentored numerous PhD students, postdoctoral researchers, and visiting scientists, fostering a collaborative and interdisciplinary research environment. His lab collaborates widely with institutions across Europe, Africa, and the Americas. Lambrecht’s work is supported by multiple ongoing projects such as CAZIKANO, INTRANZIGEANT, ANR PILGRIM, and LIPOARBO-IVI, focusing on Zika virus transmission, genetic drivers of vectorial capacity, and mosquito-virus specificity. His lab is also involved in broader initiatives like the LabEx IBEID and the Emerging Infectious Diseases program at Institut Pasteur.

• Arbovirus transmission
• Insect-virus interactions
• Mosquito genetics
• +۱۲ مورد دیگر

Rajendra Bahadur Shahi PhD is a researcher at the Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel (VUB), located at Pleinlaan 2, 1050 Brussel, Belgium. With an active research career spanning from 2012 to the present, he has established himself as a significant contributor to cancer genetics research with 11 research outputs documented in institutional records and an h-index reflecting substantial scholarly impact. Dr. Shahi's research primarily focuses on cancer genetics, particularly in the areas of breast and lung cancer predisposition. His work centers on identifying genetic variants that predispose individuals to cancer, with special attention to BRCA1/2-negative familial cases. Using advanced genomic techniques like whole-exome sequencing and next-generation sequencing (NGS), he investigates cancer-associated genes and their mutations to better understand hereditary cancer syndromes and develop improved diagnostic approaches. Analysis of Dr. Shahi's publication record reveals a clear progression from methodological development in NGS approaches toward increasingly sophisticated applications in clinical oncology. His research has evolved from foundational work on sequencing technologies to direct clinical applications in cancer predisposition and targeted therapies, particularly in breast and lung cancer. The integration of genomic data with clinical phenotypes represents a consistent theme throughout his scholarly output. European Association for Cancer Research (EACR) travel fellowship (2012) Organization of the European Cancer Institute (OECI) award (2013) Organization of the European Cancer Institute's (OECI) Award (2011) PhD Scholarship (2011) Prijs Kankeronderzoek (2016) Dr. Shahi has been actively involved in presenting his research at numerous international conferences and workshops, demonstrating his commitment to advancing knowledge in cancer genomics. His scholarly work has garnered attention across multiple platforms, with significant readership on Mendeley and coverage in news outlets, indicating the relevance and impact of his research. He has also contributed to datasets that support reproducible research in cancer genetics. Through his presentations and publications, Dr. Shahi has established himself as a contributor to the cancer research community, particularly in the application of genomic technologies to understand hereditary cancer predisposition. His work bridges basic genomic research with clinical applications, focusing on translating genetic findings into improved cancer risk assessment and potential therapeutic strategies.

• Cancer Genetics
• Breast Cancer Research
• Lung Cancer
• +۴ مورد دیگر

Professor Ian Henderson is a leading academic in the Department of Plant Sciences at the University of Cambridge, affiliated with the School of Biological Sciences. He holds the title of Professor of Genetics and Epigenetics and has been a Royal Society University Research Fellow and Gatsby Resident Fellow since 2008. Education: BA in Biological Sciences (University of Oxford, 1997-2000); PhD in Plant Genetics (John Innes Centre, 2000-2004) under Prof. Caroline Dean His research focuses on genetic and epigenetic control of meiotic recombination in plant genomes, with an emphasis on crossover frequency, chromatin interactions, and centromere evolution. His group uses model organisms like Arabidopsis thaliana , wheat, potato, and oak trees. Key trends in his recent publications include centromere genomics , epigenetic regulation of recombination , and application of long-read sequencing to resolve complex genomic regions. Collaborations with agro-biotech companies (Bayer Biosciences, Solynta) aim to translate findings into crop breeding technologies. Scientific Awards EMBO Member (2022) Society for Experimental Biology President's Medal (2013) Royal Society University Research Fellow (2008-2016) Gatsby Research Fellow (2008-2016) EMBO Long Term Fellowship (2004-2008) Professor Henderson's work bridges fundamental research on plant genome evolution with applied strategies to control recombination for climate-resilient crops. His lab employs advanced techniques including nanopore sequencing , ChIP , and high-performance computing for genome analysis.

• Genetics
• Epigenetics
• Meiosis
• +۴ مورد دیگر

Dr. Leslie G. Biesecker serves as Director & NIH Distinguished Investigator leading the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. His work bridges clinical practice and genomic research with focus on elucidating genetic mechanisms of rare developmental disorders. Educational background includes: B.S. from University of California, Riverside M.D. from University of Illinois College of Medicine Pediatrics training at University of Wisconsin Clinical and molecular genetics training at University of Michigan His research program centers on precision genomics with dual foci: (1) rare disorders of development and overgrowth including Proteus syndrome, PIK3CA-related overgrowth, and Pallister-Hall syndrome; and (2) hypothesis-generating clinical genomics through the ClinSeq ® program. The laboratory employs integrated clinical-molecular approaches, massively parallel sequencing, and animal models to investigate genotype-phenotype correlations while developing therapeutic strategies targeting the AKT/PIK3CA pathway. Recent work expands into pharmacogenetics and cancer susceptibility gene evaluation. Key publication trends reveal consistent leadership in rare disease gene discovery (2000-2012), methodological innovation in genomic analysis (2009-2013), and translational implementation of genomic medicine (2013-2016). Research spans molecular genetics, clinical diagnostics, and therapeutic development with strong emphasis on somatic mosaicism and pathway-targeted treatments. Major recognitions include: Election to National Academy of Medicine Presidency of American Society of Human Genetics (2019) NIH Distinguished Investigator appointment Dr. Biesecker co-directs a CLIA-certified molecular diagnostic laboratory and serves on editorial boards for four biomedical journals. His advisory roles include Illumina Corporation consultation and World Trade Center victim identification efforts. The Precision Genomics Section maintains active recruitment for clinical protocols studying rare disorders through the NIH Clinical Center, with recent expansion into therapeutic interventions for overgrowth disorders. Current lab structure includes staff scientists (Jennifer Johnston), genetic counselors (Julie Sapp), research scientists (Marjorie Lindhurst), and postdoctoral fellows working on genomic analysis and clinical protocols.

• Precision Genomics
• Rare Genetic Disorders
• Overgrowth Syndromes
• +۳ مورد دیگر

Andrew Wilkie is the Nuffield Professor of Pathology at the University of Oxford and an Honorary Consultant in Clinical Genetics. He is based at the MRC Weatherall Institute of Molecular Medicine and leads the Wilkie Group focused on clinical genetics and craniofacial malformations. His work bridges fundamental research with clinical applications, particularly in the field of craniosynostosis and related conditions. He serves as Co-Theme Leader for Genomic Medicine at the NIHR Oxford Biomedical Research Centre and is an Associate Editor for PLoS Genetics. Wilkie's primary research interest lies in craniofacial malformations, especially craniosynostosis (premature fusion of cranial sutures). His groundbreaking 1995 discovery identified specific FGFR2 mutations as the cause of Apert syndrome, which led to two major research themes: discovering other genetic causes of craniosynostosis and investigating why certain mutations occur with unexpectedly high frequency. This work evolved into the recognition of 'selfish spermatogonial selection,' a novel process in testes that links germline and somatic mutation origins. Current research leverages next-generation sequencing to identify new genetic causes of craniosynostosis and explores the mechanisms by which stem cell populations maintain cranial sutures. His publication record demonstrates consistent contributions to understanding craniosynostosis genetics, with recent work focusing on novel gene discoveries (such as MEGF8, ERF, TCF12, ZIC1, CDC45, and SMO), regulatory element mapping, and the application of whole genome sequencing in clinical diagnostics. The research spans molecular genetics, developmental biology, and clinical applications, with increasing emphasis on understanding the complex pathways underlying craniofacial development and malformation. Fellow of the Academy of Medical Sciences (FMedSci) Fellow of the Royal Society (FRS) Wilkie leads a research team including Associate Professor Stephen Twigg, DPhil candidates, and postdoctoral researchers. His lab collaborates extensively with clinical units across the UK and internationally, including craniofacial teams at Oxford University Hospitals, Great Ormond Street Hospital, and institutions in the Netherlands and USA. Funding comes from major sources including the Wellcome Trust, NIHR Oxford Biomedical Research Centre, NIH, and Action Medical Research. His work has translated numerous genetic discoveries into NHS diagnostic testing, directly impacting patient care through improved genetic diagnoses. The Wilkie Lab maintains strong connections with clinical genetics services and focuses on both fundamental mechanisms of cranial suture development and direct clinical applications. The team uses mouse models (including CRISPR-Cas9 genome editing), single-cell analysis, and human genomic data to understand suture biology. They're part of the 100,000 Genomes Project and work closely with the NIHR Oxford BRC Genomic Medicine theme to implement genomic technologies in healthcare.

• Clinical Genetics
• Craniofacial Malformations
• Craniosynostosis
• +۵ مورد دیگر