جست‌وجوی استاد و پژوهشگر

Elizabeth Sargentمشاهده پروفایل

استادیار

• Scholarship of Teaching and Learning
• Biogeochemistry
• Phytoplankton Ecophysiology
• +۱ مورد دیگر

Elizabeth Sargent serves as an Assistant Professor in the School of Marine Science and Policy within the College of Earth, Ocean and Environment at the University of Delaware. Her office is located in 112B Robinson Hall on the Newark campus, with primary contact through esargent@udel.edu. Her academic credentials include: Ph.D. in Biological Oceanography from the University of Southampton, National Oceanography Centre (2014) B.A. in Marine Biology from Roger Williams University (2009) Dr. Sargent's research spans Scholarship of Teaching and Learning (SoTL), biogeochemistry, phytoplankton ecophysiology, and algal ecology. Her recent scholarship demonstrates a strategic pivot from marine biogeochemistry toward educational innovation, with concentrated focus on developing and evaluating Course-based Undergraduate Research Experiences (CUREs) and the Remote Mentoring of Undergraduate Research Students (ReMentURS) framework. She investigates pedagogical effectiveness across instructional modalities while maintaining connections to marine science through earlier foundational work. Publication trends reveal a distinct transition from marine biogeochemistry (2011-2016) to educational research dominance (2018-2023), particularly in forensic chemistry CURE development, remote mentoring infrastructure, and assessment of flipped instruction techniques. Current work emphasizes evidence-based STEM education practices with strong focus on accessibility and mentorship scalability. Scientific Recognition: No formal awards documented in provided materials Dr. Sargent actively cultivates undergraduate research capacity through structured mentoring initiatives and curriculum innovation. Her ReMentURS program addresses critical gaps in remote research guidance, while forensic chemistry CURE development expands authentic research opportunities at primarily undergraduate institutions. She contributes significantly to faculty development through workshop series on mentoring best practices and evidence-based teaching strategies.

Evan Biederstedtمشاهده پروفایل

پژوهشگر

• Computational Biology
• Cancer Genomics
• Bioinformatics
• +۳ مورد دیگر

Evan Biederstedt is an Associate in Biomedical Informatics at Harvard Medical School, affiliated with the Gehlenborg Lab. He holds a Master of Science (MSc) and specializes in computational biology with a focus on cancer genomics. His work includes developing the Cell Annotation Platform (CAP) to enhance cellular state interpretation through metadata and molecular signature analysis. Biederstedt’s research spans single-cell analysis, spatial transcriptomics, and genomic tools for structural variant discovery. His contributions include scaling cross-tissue annotation models and haplotype-aware somatic variation analysis. Key areas of focus include bioinformatics tool development, cancer genomics, and genomic data integration. He has collaborated on projects like the Virus Discovery Codeathon and international hackathons for genomic analysis. Biederstedt’s GitHub profile showcases his open-source contributions. His publications highlight advancements in tensor decomposition for patient cohort analysis, spatial transcriptomics, and pangenome strategies. Biederstedt’s work bridges computational methods with biomedical applications, emphasizing scalable solutions for complex genomic data challenges.

Yildiz Yilmazمشاهده پروفایل

دانشیار

• Survival Analysis
• Statistical Genetics
• Genetic Epidemiology
• +۴ مورد دیگر

Yildiz Yilmaz serves as Associate Professor of Statistics and Deputy Head of Statistics at Memorial University of Newfoundland's Department of Mathematics and Statistics within the Faculty of Science. Holding a PhD from the University of Waterloo, she maintains an active research program at the intersection of statistical methodology and biomedical applications. Education PhD in Statistics, University of Waterloo (2009) MSc in Statistics, Middle East Technical University (2004) MSc in Computer Engineering, Middle East Technical University (2004) BSc in Statistics with minor in Computer Engineering, Middle East Technical University (2002) Her research focuses on developing advanced statistical methods for survival analysis, genetic epidemiology, and causal inference. Key programs include: (1) novel methods for genome-wide prognosis studies of time-to-event phenotypes, (2) genetic association methods using joint/directional models of multiple phenotypes, (3) evaluation of response-dependent sampling designs, and (4) models for multivariate survival times. Her work addresses critical challenges in biomedical research through innovative statistical theory. Recent publications demonstrate consistent focus on colorectal cancer genomics, statistical genetics methodology, and survival analysis applications. Trends show increasing emphasis on multi-phenotype analysis, SNP interaction networks, and time-varying effects in genetic association studies, with significant contributions to copula-based joint modeling approaches. Research Support Natural Sciences and Engineering Research Council (NSERC) Canadian Statistical Sciences Institute (CANSSI) Faculty of Medicine, Memorial University Research and Development Corporation (RDC) of Newfoundland and Labrador Dr. Yilmaz actively mentors students across multiple programs including PhD, MSc, MAS, and undergraduate levels. Her current research group comprises seven students working on statistical genetics and survival analysis projects, building on a track record of successfully supervising numerous graduate students and post-doctoral fellows since 2013.

Thomas Bourgeronمشاهده پروفایل

استاد

• Genetics
• Genomics
• Autism Spectrum Disorders
• +۱۲ مورد دیگر

Thomas Bourgeron is a Professor and head of the Human Genetics and Cognitive Functions Unit at the Institut Pasteur in Paris, France. His research integrates psychiatry, neuroscience, and genetics to investigate the causes of autism spectrum disorders (ASD) and improve clinical management. He leads a multidisciplinary team and numerous international research initiatives. Institut Pasteur, Paris Human Genetics and Cognitive Functions Unit Principal Investigator, EU-AIMS, PARIS Study, Phelan-McDermid Syndrome Project His research focuses on identifying genetic mutations linked to ASD, particularly in synaptic genes (NLGN, SHANK, CNTN) and the melatonin pathway affecting sleep. His team employs high-throughput genomics, brain imaging (MRI, EEG), mouse models, and human iPSCs to study functional impacts and develop therapeutic strategies. He emphasizes data sharing and open science through tools like GeneTrek and GRAVITY. His recent publications reveal genetic heterogeneity in autism, brain connectivity patterns, and phenotypic stratification using electrophysiology and behavioral analysis. His work bridges molecular mechanisms with clinical manifestations, aiming to identify common pathways for targeted interventions. Phenotypic effects of genetic variants in autism Genetic correlates of phenotypic heterogeneity Stratification of autistic phenotypes using EEG Functional impact of SHANK3 mutations Proteomic analysis of the pineal gland in autism Thomas Bourgeron mentors numerous PhD students, postdoctoral researchers, and engineers. He collaborates with leading institutions and clinicians, including Professor Christopher Gillberg at the University of Gothenburg. His lab is actively recruiting in human genetics and neuroimaging. He contributes to public education through lectures, open-access tools, and outreach initiatives like the CléPsy platform and educational videos for families of autistic children.

Uwe Rudolphمشاهده پروفایل

استاد

• Neuroscience
• Neurobiology
• Cognitive Function
• +۳ مورد دیگر

Uwe Rudolph serves as Professor and Head of the Department of Comparative Biosciences within the College of Liberal Arts & Sciences at the University of Illinois Urbana-Champaign. He holds an affiliate appointment at the Carl R. Woese Institute for Genomic Biology. His research centers on the neurobiology of cognitive function in aging and the pathophysiology of neuropsychiatric disorders, with specialized focus on GABA and NMDA receptor mechanisms. Current investigations examine receptor-mediated cognitive impairment, genetic contributions to psychosis, and neuroinflammatory processes in pulmonary disease. Recent publications (2023-2025) reveal interdisciplinary work spanning molecular neuroscience, immunology, and veterinary medicine. Key trends include receptor pharmacology applications in depression treatment, genetic models of cognitive disorders, and translational approaches to animal welfare. His work consistently addresses receptor dysfunction in neuropsychiatric conditions while expanding into novel therapeutic domains.

• human genetics
• genomics
• bioinformatics
• +۷ مورد دیگر

Sophie LIMOU is a Professor in Human Genetics at the University of Nantes , affiliated with the Mathematics, Informatics and Biology (MIB) department and leading Team 3 at the CR2TI (Center for Research in Transplantation and Translational Immunology) under Inserm UMR1064. Her work bridges genomics, bioinformatics, and immunology in kidney transplantation and complex disease research. Cell Biology Molecular Biology Physiology Human Genomics Big Data Bioinformatics Her research focuses on genetic epidemiology of complex diseases, integrating genomics, bioinformatics, and biostatistics to explore kidney function and pathologies in five key areas: end-stage renal disease, kidney graft survival, transplantation comorbidities, recurrent diseases post-transplantation, and living donor kidney function. She emphasizes nephrogenomics and precision medicine applications. Recent publications highlight her work in HLA typing , polygenic risk scores , and computational immunogenetics , particularly in transplantation outcomes. Tools developed include SHLARC reference panels and synthetic HLA twin models for privacy-preserving data sharing. She actively collaborates with international consortia and welcomes researchers to join her team at CR2TI, where she integrates multi-omics data into clinical care frameworks.

• Developmental Psychology
• Neuroscience
• Child Development
• +۷ مورد دیگر

Dr. Sonja de Zwarte is an Assistant Professor in the Department of Psychology within the Faculty of Social and Behavioral Sciences at Utrecht University. Her office is located in the Martinus J. Langeveld building at Heidelberglaan 1 in Utrecht. She maintains an active research program focusing on developmental psychology and neuroscience, with particular emphasis on early childhood development and brain imaging. Her research interests span multiple interconnected domains including the critical first 1001 days of child development, prenatal brain development, schizophrenia and bipolar disorder research, genetic risk factors, and the application of artificial intelligence in behavioral analysis. Her work often involves large-scale collaborative efforts through international consortia such as ENIGMA (Enhancing Neuro Imaging Genetics Through Meta Analysis), which enables powerful analyses of brain structure and function across thousands of participants worldwide. Dr. de Zwarte's publication record demonstrates consistent productivity with numerous high-impact publications in top neuroscience and psychiatry journals. Her recent work shows a clear trajectory integrating advanced neuroimaging techniques with genetic analysis to understand developmental pathways in both typical and at-risk populations. She has made significant contributions to understanding how genetic risk factors manifest in brain structure and cognitive function, particularly in relation to schizophrenia and bipolar disorder. Her methodological expertise spans both traditional neuroimaging analysis and cutting-edge applications of artificial intelligence to behavioral data, as evidenced by her recent work on automated segmentation of fetal brain structures using deep learning and automated analysis of parent-child interactions. This interdisciplinary approach positions her work at the intersection of developmental psychology, clinical neuroscience, and computational methods.

Sebastian Zollnerمشاهده پروفایل

استاد

• Statistical Genetics
• Population Genetics
• Copy Number Variation
• +۵ مورد دیگر

Sebastian Zollner is a Professor in the Department of Biostatistics at the University of Michigan School of Public Health, with a secondary appointment in the Department of Psychiatry. His research bridges statistical genetics, computational biology, and psychiatric disease analysis. Education PhD in Biology, University of Munich (2001) MSc in Mathematics, University of Munich (1997) Research Focus : Zollner develops statistical methods to study genome variation, population history, and disease variant mapping. His work addresses challenges in copy number variation, rare variant analysis, and psychiatric genetics, particularly focusing on bipolar disorder and germline mutation patterns. Scientific Contributions : Recent publications highlight advancements in mutation signature analysis, rare variant modeling, and coalescent algorithms, demonstrating expertise in integrating mathematical theory with genomic data. Collaborations : Active in interdisciplinary teams like the Prechter Bipolar Clinical Research Collaborative and BRIDGES Consortium, applying statistical tools to large-scale genomic datasets.

Laura Almasyمشاهده پروفایل

استاد

• Genetics
• Genomics
• Computational Biology
• +۳ مورد دیگر

Laura Almasy serves as Professor of Genetics in the Department of Genetics at the University of Pennsylvania, with affiliations in the Genomics and Computational Biology Graduate Group. Her work bridges statistical genetics, neuroimaging, and complex trait analysis across psychiatric and cardiovascular domains. Her academic foundation includes a B.A. in Biology and Psychology from Swarthmore College (1990), followed by an M.Phil. (1992) and Ph.D. (1996) in Genetics from Yale University. Postdoctoral training was completed at the Southwest Foundation for Biomedical Research (1996-1998). Research centers on genetic architecture of complex diseases , integrating whole-genome sequencing , gene dosage studies , and neurocognitive phenotyping . Key emphases include schizophrenia risk mechanisms, cardiovascular remodeling in congenital heart disease, and population-specific genetic effects. Recent work leverages cross-ancestry genomic analyses and multimodal trait integration to dissect gene-environment interactions. Analysis of 2024-2025 publications reveals accelerating focus on copy-number variant impacts across cognitive and physiological traits, with growing attention to liver-related genetic regulation and personalized brain network mapping. Collaborative studies consistently incorporate large pedigree designs and transdisciplinary methodologies spanning psychiatry, cardiology, and computational biology. No details regarding scientific awards, student mentorship, grant funding, or laboratory teams were provided in the source material.

Jason Sheltzerمشاهده پروفایل

پژوهشگر ارشد

• Cancer Biology
• Genetics
• Molecular Biology
• +۵ مورد دیگر

Jason Sheltzer is a CSHL Fellow at Cold Spring Harbor Laboratory’s School of Biological Sciences, focusing on cancer research. His work leverages CRISPR technology to investigate aneuploidy, copy number variations, and drug target validation in cancer cells. Research Interests: Sheltzer explores how chromosomal abnormalities influence cancer progression, challenges traditional drug target assumptions (e.g., MELK’s non-essential role), and develops prognostic tools using genomic data. Key Discoveries: His studies revealed that copy number variations outperform mutation analysis in predicting cancer severity and debunked MELK’s role in tumor proliferation via CRISPR experiments. Awards: Damon Runyon-Rachleff Innovation Award for high-risk/high-reward cancer research. Presidential Early Career Award for Scientists and Engineers (PECASE) for groundbreaking work on genetic drivers of cancer. Labs & Teams: Sheltzer leads a research group at CSHL, collaborating with computational biologists and clinicians to translate findings into clinical tools.

Nancy B. Spinnerمشاهده پروفایل

استاد

• Human Genetics
• Notch Signaling
• Alagille Syndrome
• +۵ مورد دیگر

Nancy B. Spinner, PhD is a Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia (CHOP), which is affiliated with the University of Pennsylvania's Perelman School of Medicine. She holds graduate group affiliations in Cell and Molecular Biology and Genomics and Computational Biology. Her research program focuses on identifying genes that contribute to congenital diseases, with particular emphasis on Alagille syndrome, Biliary Atresia, and ring chromosome disorders. Dr. Spinner employs advanced genomic techniques including SNP array analysis, whole exome sequencing, and whole genome sequencing to investigate the genetic basis of these conditions. Education: B.A. in Anthropology from Brandeis University (1975) Ph.D. in Genetics from University of California at Berkeley/San Diego State (1984) Post-Graduate Training as Fellow in Genetics at The Children's Hospital of Philadelphia (1984-1986) Certified by American Board of Medical Genetics in Medical Genetics and Clinical Cytogenetics (1987) Dr. Spinner's research interests span multiple areas of human genetics with focus on Notch signaling pathway disorders. Her laboratory investigates the molecular mechanisms underlying Alagille syndrome, demonstrating that this disorder is caused by mutations in two genes within the Notch Signaling Pathway (JAG1 and NOTCH2). Her team also studies Biliary Atresia susceptibility through genome-wide association studies and whole exome sequencing, while investigating the molecular basis of Ring Chromosome 14 and 20 syndromes using various research strategies including induced pluripotent stem cell work. In collaboration with Dr. Ian Krantz, she leads a program project grant testing whole exome sequencing applications for pediatric disorders while exploring the ethical and psychosocial implications of genomic medicine. Dr. Spinner's publication record spans over four decades, with significant contributions to understanding genetic mechanisms of congenital disorders. Her recent work focuses on comprehensive mutation analysis in Alagille syndrome, natural history studies of liver disease in affected children, and establishing genomic technologies as standard diagnostic tools. She has been instrumental in developing chromosomal microarray as a first-tier diagnostic test and advancing understanding of mosaicism in clinical genetics. Research Team: Debbie McEldrew - Research Associate Jason Mills, Ph.D. - Research Associate Christopher Grochowski - Senior Research Technician Ramakrishnan Rajagopalan - Bioinformatics Specialist Alexandra Falsey - Clinical Research Coordinator

Priscilla Ayineمشاهده پروفایل

استادیار

• Nutrition Security
• Healthy Food Access
• Food Systems
• +۳ مورد دیگر

Dr. Priscilla Ayine serves as an Assistant Professor and Extension Specialist in Nutrition Security and Healthy Eating at Tennessee State University's College of Agriculture, joining the faculty in October 2023. Her work bridges academic research with community-focused solutions to address nutritional disparities. Her educational foundation includes: PhD in Nutrition Science from Auburn University MS in Food and Nutritional Science from Tuskegee University BEd in Basic Education from the University of Education, Winneba, Ghana Teaching Diploma from Boscos College of Education, Navrongo, Ghana Dr. Ayine's research centers on Nutrition Security , Healthy Food Access , and Food Systems , with specialized focus on community-engaged interventions and school-based health initiatives . She investigates socioeconomic determinants of childhood obesity, parental influences on dietary behaviors, and biological mechanisms linking nutrition to cardiovascular health, particularly in underserved rural and low-income populations. Analysis of her 2019-2022 publications reveals consistent exploration of obesity drivers across biological, environmental, and behavioral domains. Key trends include microbiome-obesity interactions, sleep-diet relationships, and structural interventions targeting food access through school and community channels. Her accolades demonstrate early-career excellence: GMaP Travel Award (2022) Texas A&M Postdoctoral Scholar Travel Award (2022) Auburn University Distinguished Dissertation Award (2021) Multiple research symposium awards (2016-2021) Dr. Ayine currently leads a $143,177 American Heart Association project evaluating parent engagement in school health initiatives (2023-2025) and previously contributed to a GMaP-funded study on infant nutrition. Her extension role involves direct community collaboration to translate research into actionable programs across Tennessee.

• Cytogenetics
• Medical Genetics
• Genomics
• +۳ مورد دیگر

Peining Li is a Professor of Genetics at Yale School of Medicine, serving as Co-Director of the Fellowship in Laboratory Genetics and Genomics and Director of the Cytogenetics Lab. His research focuses on structural and functional characterization of human chromosome abnormalities using advanced techniques like FISH, microsatellite allelotyping, and next-generation sequencing. He specializes in identifying disease-causing genes and understanding molecular mechanisms behind genetic disorders. Li holds a PhD from the University of Alabama at Birmingham (1996) and completed postdoctoral training in Clinical Cytogenetics (Yale, 2003) and Clinical Molecular Genetics (UAB, 1999). Research Interests: Chromosome aberrations, genetic diagnostics, ring chromosome pathology, and genomic analysis of cancer (e.g., hepatocellular carcinoma). Key collaborations include work with Allen Bale and Yong-Hui Jiang on genetic modifiers and prenatal diagnostics. Publications highlight advancements in cytogenomic analysis for pregnancy loss, ring chromosome mechanisms, and translational research in vascular tissue engineering. His lab contributes to clinical diagnostics and global registries for ring chromosomes. No awards listed, but active in professional education and guideline development for genetic testing standards.

Megan Freethمشاهده پروفایل

استاد

• Autism Spectrum Disorders
• Neurodevelopmental Psychology
• Social Attention
• +۵ مورد دیگر

Professor Megan Freeth serves as Professor of Neurodevelopmental Psychology and School Director of Research and Innovation at the University of Sheffield's School of Psychology. Her internationally recognized research focuses on improving the lives of autistic individuals through co-produced studies addressing healthcare access, employment barriers, and societal inclusion, while simultaneously investigating autism's expression in rare genetic syndromes using innovative eye-tracking methodologies. Her educational background includes: PhD in Psychology, University of Nottingham MSc in Psychology, University of Nottingham BSc in Psychology, University of Birmingham Professor Freeth's research program centers on three interconnected themes: Societal Barrier Reduction : Conducting co-produced qualitative research to understand and dismantle obstacles faced by autistic people in healthcare systems and employment contexts through interpretative phenomenological analysis. Genetic Syndrome Phenotyping : Leading groundbreaking studies on autism manifestations in Sotos syndrome, Russell-Silver syndrome, SOX11 syndrome, and 16p11.2 copy number variations to unravel autism's heterogeneity. Real-World Social Attention : Utilizing mobile and laboratory eye-tracking to examine how autistic and neurotypical individuals process social cues in naturalistic environments. Analysis of her recent publications (2022-2025) reveals a decisive shift toward participatory research methodologies where autistic individuals actively shape study design and implementation. Her work increasingly addresses systemic barriers in healthcare and employment while expanding genetic syndrome characterization through multimodal assessment. This dual focus on immediate quality-of-life improvements and fundamental neurodevelopmental mechanisms defines her impactful scholarly trajectory. Her scientific recognition includes: Leverhulme Early Career Fellowship (2011-2013) ESRC Post Doctoral Fellowship (2009-2010) Professor Freeth maintains an active supervisory portfolio with current PhD students Nazli Altin (primary), Aikaterini Giannadou, Louise Stokes, Jiayi Chen (co-supervision), and DClin student Rosie Wilson. Her research program is sustained by major funding including NIHR PDG (£148,622), NIHR RfPB (£249,883), and Colt Foundation (£80,953) grants focused on participatory systems mapping, post-diagnostic assessment, and employment barrier reduction respectively. She directs the Sheffield Autism Research Lab (ShARL) within the University's Neuroscience Institute, leading interdisciplinary teams comprising cognitive neuroscientists, clinical psychologists, and geneticists. Her research group's collaborative approach with autistic communities and healthcare providers ensures direct translation of findings into practice through the International Classification of Functioning framework.

Joshua Akeyمشاهده پروفایل

استاد

• Genomics
• Population Genetics
• Evolutionary Biology
• +۴ مورد دیگر

Joshua Akey is a Professor at Princeton University's Lewis-Sigler Institute for Integrative Genomics, specializing in the biology and evolution of genomes. His interdisciplinary research spans yeast, dogs, and humans, integrating experimental, computational, and theoretical methods to address complex genetic questions. Research Focus: Human population genomics, yeast functional genomics, and canine adverse drug response genetics. Collaborations: Katrina Mealey (Washington State University), Evan Eichler (University of Washington). Key Themes: Archaic introgression, adaptive evolution, and the genetic architecture of phenotypic variation. The Akey Lab leverages large-scale datasets and statistical approaches to explore genome-wide selection patterns, copy number variation, and evolutionary mechanisms. Recent publications emphasize comparative genomics, longevity in companion dogs, and Neanderthal ancestry in African populations. Scientific Recognition: Recognized as a Best Scientific Figure of 2012 by Wired. Students: Ruby Redlich, Susie Song, Caroline (Cara) Weisman, Winnie Xu, Kaiqian Zhang.