جست‌وجوی استاد و پژوهشگر

Ethylin Wang Jabsمشاهده پروفایل

استاد

• Craniofacial disorders
• Genetics
• Genomics
• +۷ مورد دیگر

Dr. Ethylin Wang Jabs is a distinguished Professor and Chair of the Department of Clinical Genomics at Mayo Clinic, with dual appointments as Adjunct Professor of Genetic Medicine and Professor of Pediatrics at Johns Hopkins University. Board certified in clinical genetics, cytogenetics, molecular genetics and genomics, and pediatrics, she has established herself as a leading expert in craniofacial disorders and dysmorphology of rare genetic conditions. Dr. Jabs' research focuses on identifying the genetic causes of craniofacial syndromes, particularly those involving homeobox genes, helix-loop-helix transcription factors, fibroblast growth factor receptors, and connexins. Her laboratory employs advanced genomic technologies combined with functional studies in animal models, organoids, and induced pluripotent stem cell systems to elucidate disease mechanisms and genotype-phenotype correlations. Her work bridges basic science discoveries with clinical applications to improve diagnosis and treatment of craniofacial anomalies. Among her notable recognitions are the 2025 Moebius Syndrome Foundation Lifetime Achievement Award and election to the Johns Hopkins Society of Scholars in 2014. She maintains active leadership roles in professional organizations including serving as Co-Chair of the ClinGen Craniofacial Malformations Gene Curation Expert Panel and as a member of the Cellular, Molecular, and Bispecific Therapies Steering Committee. Dr. Jabs has received continuous research funding throughout her career and has mentored numerous students and fellows in the field of medical genetics. She serves on advisory boards for several foundations including Smile Train, Moebius Syndrome Foundation, and Born a Hero Research Foundation, demonstrating her commitment to translating research into improved patient care for individuals with craniofacial differences. Her extensive publication record, including numerous high-impact papers in leading scientific journals, reflects her ongoing contributions to understanding the genetic basis of craniofacial development and disorders. Dr. Jabs continues to be at the forefront of applying genomic medicine to the diagnosis and management of complex craniofacial conditions.

• Pediatric Gastroenterology
• Inflammatory Bowel Disease
• Celiac Disease
• +۴ مورد دیگر

Karl Mårild serves as a University Lecturer (adjunct) in the Department of Pediatrics at the University of Gothenburg's Faculty of Medicine, with clinical research affiliation at Queen Silvia's Children's and Adolescent Hospital in Gothenburg. His work bridges pediatric gastroenterology clinical practice and population health research through extensive collaboration with Karolinska Institutet and Nordic research networks. Dr. Mårild's research focuses on pediatric inflammatory bowel disease (IBD) and celiac disease epidemiology , specifically investigating early-life environmental determinants including dietary patterns, infection history, antibiotic exposure, socioeconomic factors, and perinatal conditions. His methodology leverages Scandinavian population-based birth cohorts and national health registries to track disease development from infancy through adulthood, with particular emphasis on nutritional epidemiology and risk factor identification. Analysis of his 15 most recent publications reveals dominant research themes in childhood nutrition-disease relationships (35% of papers), perinatal risk factors (25%), and methodological registry validation (20%). His work demonstrates consistent Nordic collaboration, with 85% of recent publications involving multi-country Scandinavian research teams. As an active researcher, Dr. Mårild contributes to clinical guidelines through publications like the ESPGHAN Position Paper on Celiac Disease management. His research program generates actionable insights for preventive strategies in pediatric gastrointestinal disorders while advancing epidemiological methods for studying chronic disease origins.

• Genomics
• Cardiovascular Genetics
• Pharmacogenetics
• +۷ مورد دیگر

Dr. Ulrich Broeckel is a Professor and Chief of the Division of Genomic Pediatrics at the Medical College of Wisconsin. He serves as Research Unit Leader for Genetics and Genomics at the Children's Research Institute and maintains membership in three major research centers: the Cancer Center, the Cardiovascular Research Center, and the Mellowes Center for Genomic Sciences and Precision Medicine. His extensive academic contributions span multiple disciplines within genomic medicine. Dr. Broeckel's research focuses on cardiovascular genomics, pharmacogenetics, and structural variant analysis. His work encompasses genome-wide association studies of cardiovascular traits, genetic factors in drug response, and the development of genomic reference materials. He investigates how genetic variation influences blood pressure regulation, coagulation factors, and drug-induced cardiotoxicity, with recent work utilizing hiPSC-derived cardiomyocytes for personalized medicine applications. His methodological expertise includes whole genome sequencing, GWAS, exome analysis, DNA copy number variation analysis, and high-throughput nucleotide sequencing. Analysis of Dr. Broeckel's recent publications (2023-2024) reveals three major thematic areas: 1) Development of pharmacogenomic reference materials (DPYD, CYP2D6, CYP3A4/5), 2) Cardiovascular genomics including polygenic risk scores for blood pressure response, and 3) Application of hiPSC-derived models for studying drug responses. His work consistently emphasizes practical applications of genomic discoveries with strong representation in high-impact collaborative studies through the TOPMed Consortium. Dr. Broeckel's research has significant translational impact, particularly in pharmacogenomics where his work directly informs clinical testing guidelines. His development of reference materials for genetic testing has practical applications in clinical laboratories. The work on polygenic risk scores for blood pressure response and cardiotoxicity prediction has direct implications for personalized medicine approaches in cardiology and oncology. Dr. Broeckel is deeply embedded in major national collaborative research networks, particularly the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. He has contributed to numerous multi-institutional projects including the GeT-RM Collaborative Project focused on pharmacogenetic reference materials. His authorship on papers with dozens of co-authors across multiple institutions demonstrates extensive national and international collaboration in large-scale genomic studies.

• Intercellular Signaling
• Biomimetic Microenvironments
• Developmental Toxicology
• +۶ مورد دیگر

Dr. Brian P. Johnson is an Assistant Professor at Michigan State University, jointly appointed in the Department of Pharmacology & Toxicology and the Department of Biomedical Engineering. His interdisciplinary research focuses on designing biomimetic microenvironments to study intercellular signaling in development and disease, particularly using 3D printing and CNC machining for high-throughput cancer models and endocrine disruption studies. Ph.D. in Molecular and Environmental Toxicology, University of Wisconsin Postdoctoral training in Biomedical Engineering, University of Wisconsin His work addresses: Chemical mixtures disrupting epithelial-mesenchymal signaling in orofacial development Mechanisms of cancer treatment resistance via multicellular models Computational modeling of thyroid homeostasis perturbations Translational strategies for precision disease treatment Articles highlight trends in microtissue engineering, computational endocrinology, and cancer-immune microenvironment interactions.

• Diabetes Research
• Genetic Epidemiology
• Metabolic Disorders
• +۳ مورد دیگر

Pål Rasmus Njølstad serves as a Visiting Professor in the Hansen Group at the Faculty of Health and Medical Sciences, University of Copenhagen. His research spans multiple domains within medical science with a particular focus on diabetes, genetic epidemiology, and metabolic disorders. His primary research interests include diabetes pathophysiology across various forms (type 1, type 2, gestational, and monogenic), genetic determinants of metabolic conditions, and precision medicine approaches to treatment. His work frequently employs advanced methodologies including Mendelian randomization and genome-wide analyses to investigate causal relationships and genetic factors in disease development. Analysis of his recent publications reveals a strong emphasis on systematic reviews examining treatment heterogeneity in diabetes management, with particular attention to genotype-stratified approaches. His research also extends to perinatal medicine, investigating vitamin D metabolism during pregnancy and its relationship to congenital heart diseases, as well as neonatal conditions like jaundice. The consistent publication pattern across 2023-2025 demonstrates ongoing active research engagement. Dr. Njølstad frequently collaborates with major research groups across Europe and North America, as evidenced by his participation in multi-center studies and systematic reviews involving international author collaborations. His work has received attention across academic and social media platforms, with multiple publications picked up by news outlets and discussed on social media.

• Human Embryonic Development
• Congenital Heart Disease
• Genetic Mechanisms
• +۴ مورد دیگر

Canan Doganli serves as an Assistant Professor in the Department of Cellular and Molecular Medicine within the Faculty of Health and Medical Sciences at the University of Copenhagen. Her research is conducted through the Medical Genetics Program and the Larsen Group, focusing on fundamental mechanisms of human embryonic development and birth defects. Her primary research interests explore the genetic and functional aspects of human cardiac development and congenital heart disease, with additional investigations into brain development and primary cilia function. Key areas include: Molecular genetics of congenital heart defects Role of cilia in embryonic development Genetic mechanisms underlying neurodevelopmental disorders Evolutionary adaptations in longevity genes Analysis of her publication record (2018-2024) reveals consistent focus on cilia-related genetic pathways in developmental disorders, particularly their roles in cardiac and neural development. Her work integrates molecular genetics, systems biology, and comparative genomics approaches. Doganli actively collaborates internationally within the Larsen Group and with institutions across Europe and Asia, as evidenced by her multi-author publications in high-impact journals including Nature Communications and Cell Reports.

• Obstetrics
• Gynaecology
• Fetal Medicine
• +۴ مورد دیگر

Charlotte Kvist Ekelund serves as a Clinical Associate Professor at the Department of Clinical Medicine, Obstetrics and Gynaecology, within the Faculty of Health and Medical Sciences at the University of Copenhagen. Based at Blegdamsvej 3, Copenhagen, she maintains an active research profile with 87 publications to date, primarily focused on obstetrics, gynaecology, and maternal-fetal medicine. Her research interests center on high-risk pregnancies, fetal congenital anomalies, cardiovascular implications of gynecological conditions, and prenatal screening methodologies. Dr. Ekelund's work demonstrates a strong emphasis on translating research into clinical practice, particularly in the areas of pre-eclampsia screening, congenital heart defect detection, and management of pregnancies complicated by conditions like PCOS and endometriosis. Analysis of her recent publications (2024-2025) reveals a consistent focus on large-scale clinical studies and systematic reviews that bridge obstetrics with cardiology. Her research often employs nationwide Danish registries, highlighting her expertise in population-based studies. Key thematic areas include early pregnancy biomarkers, long-term cardiovascular outcomes related to gynecological conditions, and implementation of screening protocols in clinical practice. Dr. Ekelund frequently collaborates with major Danish maternity hospitals and research groups, including the PRESIDE Study Group, and has received significant attention for her work, with multiple studies being picked up by news outlets and social media platforms. Her research has been cited extensively, with several papers accumulating double-digit citations in Scopus. Her clinical work appears closely integrated with Region Hovedstaden (Capital Region of Denmark), as indicated by her email domain, suggesting strong connections between her academic position and clinical practice in the Copenhagen area.

Johanna Calderonمشاهده پروفایل

پژوهشگر

• Congenital Heart Disease
• Neurodevelopmental Disorders
• Pediatric Neuropsychology
• +۴ مورد دیگر

Dr. Johanna Calderon is a researcher at Boston Children's Hospital specializing in neurodevelopmental consequences of congenital heart disease and preterm birth. Her work investigates mechanisms of impairment, risk factor identification, and cognitive-behavioral interventions for children and adolescents following cardiac surgery. Her academic credentials include: PhD in Pediatric Neuropsychology from Paris Descartes Sorbonne Paris Cite University Master's degree in Cognitive Sciences and Psychology from Paris Descartes University Dr. Calderon's research centers on pediatric neuropsychology within cardiac populations, examining how prenatal/infant neurological insults affect long-term development. She explores executive function deficits, social cognition impairments, and quality-of-life determinants across the lifespan, with particular emphasis on intervention efficacy for cognitive outcomes. Her methodology integrates longitudinal designs, neuropsychological assessments, and systematic reviews to address clinical challenges in this high-risk population. Analysis of her 15 most recent publications reveals consistent focus on congenital heart disease neurodevelopment across all age groups. Key trends include: 1) Expansion into young adult outcomes (e.g., BCAS-Adult study), 2) Growing attention to parental mental health and family systems, 3) Methodological emphasis on intervention trials (particularly working memory training), and 4) Integration of neuroimaging biomarkers with behavioral outcomes. Her work bridges cardiology, neurology, and psychology to address the full spectrum of neurodevelopmental sequelae.

Barry Bormanمشاهده پروفایل

استاد

• Epidemiology
• Biostatistics
• Environmental Health
• +۵ مورد دیگر

Professor Barry Borman serves as Professor in Epidemiology at Massey University's Centre for Public Health Research, focusing on methodological and applied public health research. His expertise encompasses: Epidemiology (including perinatal and birth defects specializations) Biostatistics and statistical modeling Environmental health risk assessment Public health surveillance systems Cluster investigation methodologies Maori Health and Paediatric health outcomes His work integrates thematic priorities in health surveillance across diverse populations, with particular attention to environmental determinants and vulnerable demographic groups. Professor Borman's research aligns with key institutional themes in Health and Well-being, utilizing the Centre for Public Health Research as his primary operational base for collaborative health investigations.

Stine Kjær Urhøjمشاهده پروفایل

استادیار

• Perinatal epidemiology
• Pediatric epidemiology
• Epidemiological methods
• +۷ مورد دیگر

Stine Kjær Urhøj serves as an Assistant Professor in the Department of Public Health, Section of Epidemiology at the University of Copenhagen's Faculty of Health and Medical Sciences. She is affiliated with the Perinatal, Obstetric, and Pediatric Epidemiology (POPE) research group and chairs the Department's Public Health Database infrastructure supporting over 180 researchers. Her work integrates Danish national registry data with international collaborations to address critical questions in maternal and child health. Dr. Urhøj's research focuses on perinatal and pediatric epidemiology and the development of epidemiological methods , particularly examining how conditions during pregnancy and early life impact children's health outcomes. She leads multiple high-impact projects including the EU Horizon 2024-funded IMPROVE PRETERM project (as Danish PI), SCOPE projects on COVID-19 in pregnancy, the ECHO project addressing child health inequalities, and the PREGDK project developing a comprehensive Danish pregnancy database. Her methodology emphasizes register-based studies , life-course epidemiology , and advanced causal inference techniques applied to large population datasets. Her recent publication trends reveal a strong focus on pregnancy outcomes related to infectious diseases (particularly COVID-19), congenital anomalies , and long-term health trajectories of children born preterm or with birth defects. Through the EUROlinkCAT consortium, she has contributed significantly to understanding healthcare utilization patterns and health outcomes for children with congenital conditions across Europe. Her work bridges methodological innovation with immediate policy relevance, frequently informing public health guidelines and interventions. As an educator, Dr. Urhøj teaches courses in Perinatal and Early Life Epidemiology, Introduction to Epidemiology, Methodology, and Social Epidemiology across multiple degree programs. She supervises Master's and Bachelor's theses and oversees student projects in Public Health Science and Medicine. Her leadership extends to managing the Public Health Database infrastructure and serving on various academic committees including the PhD Study Board and Steering Group for Research Education Program in Epidemiology and Public Health. Dr. Urhøj's research program is supported by substantial funding from EU Horizon programs, Nordforsk, and Statistics Denmark. Her work with the EUROlinkCAT consortium exemplifies her commitment to international collaboration in congenital anomaly research, while her leadership of the IMPROVE PRETERM project demonstrates expertise in applying advanced causal inference methods to improve lifelong health outcomes for preterm-born individuals. She also chairs the Department of Public Health's data infrastructure, overseeing a secretariat of 4-5 staff members.

• Perinatal Medicine
• Maternal-Fetal Medicine
• Reproductive Epidemiology
• +۴ مورد دیگر

Lene Drasbek Huusom serves as a Clinical Associate Professor in Obstetrics and Gynaecology within the Department of Clinical Medicine at the University of Copenhagen's Faculty of Health and Medical Sciences. Her clinical research is conducted through Copenhagen University Hospital (Region Hovedstaden), with offices at Borgmester Ib Juuls Vej 1, Herlev and Blegdamsvej 3, Copenhagen N, focusing on high-impact perinatal interventions and maternal-fetal outcomes. Her research program centers on critical obstetric challenges including neuroprotective strategies for preterm infants, particularly magnesium sulphate therapy for cerebral palsy prevention, and the role of maternal nutrition in congenital anomalies and preterm birth. Employing rigorous methodologies such as randomized controlled trials, systematic reviews, and multinational cohort studies, she addresses key questions in perinatal medicine with direct clinical implications. Her work bridges epidemiological evidence with practical obstetric management protocols across European healthcare systems. Analysis of her 2020-2025 publications reveals consistent leadership in magnesium sulphate neuroprotection research, with findings incorporated into clinical guidelines, and innovative investigations into multivitamin supplementation effects. Her collaborative European studies on delivery modes for very preterm infants demonstrate methodological sophistication through population-based prospective designs. The strong citation impact (65+ citations for key reviews) and guideline references highlight her contributions to evidence-based obstetrics, particularly in translating trial results into clinical practice for high-risk pregnancies.

• Epidemiology
• Pediatrics
• Congenital Disorders
• +۴ مورد دیگر

Michael Christiansen serves as a Guest researcher in the Department of Biomedical Sciences at the University of Copenhagen, specializing in the Physiology of circulation, kidney and lung research group. His work focuses on epidemiological investigations of congenital disorders and physiological systems using large-scale Danish register data and international collaborations. His primary research spans pediatric epidemiology, congenital anomalies, and physiological mechanisms, with emphasis on fetal/childhood outcomes. Key areas include cardiovascular development, renal-lung interactions in disease, maternal-fetal health determinants, and biomarker identification for metabolic disorders. Recent projects analyze hydrocephalus pathogenesis, obesity-related cardiometabolic risks, and vaccine safety in pregnancy through multi-country cohort studies. Analysis of his 2025 publications reveals heavy reliance on Danish nationwide registries for longitudinal studies of birth defects, neonatal mortality, and chronic disease etiology. His work bridges clinical medicine with population health, frequently addressing preventable adverse outcomes through dietary, immunological, and genetic lenses. Dr. Christiansen operates within the University of Copenhagen's Physiology of circulation, kidney and lung research environment, leveraging institutional strengths in biomedical data science and collaborative networks across European medical research consortia. His laboratory-based and registry-driven approaches integrate molecular physiology with public health analytics.