جست‌وجوی استاد و پژوهشگر

Sandra A Darilekمشاهده پروفایل

دانشیار

• Prenatal Genetic Counseling
• Preimplantation Genetic Counseling
• Infertility and Reproductive Genetics
• +۳ مورد دیگر

Sandra A Darilek, M.S., C.G.C., is an Associate Professor at Baylor College of Medicine and serves as Co-Manager of the Prenatal Genetics Service within the Department of Molecular and Human Genetics. She is a certified and licensed genetic counselor with expertise in prenatal and preimplantation genetic counseling, infertility, and reproductive genetics. Education: Master of Science in Genetic Counseling – University of Texas at Houston Graduate School of Biomedical Sciences (2003) Bachelor of Science in Genetics – Texas A&M University (2000) Research and Clinical Interests: Her professional focus is on providing comprehensive genetic counseling to patients navigating prenatal testing, preimplantation genetic diagnosis (PGT), and infertility-related genetic risks. Her work aims to empower patients with accurate, actionable genetic information to guide reproductive decisions. Scientific Awards: 2022 Outstanding Supervisor Award – Association of Genetic Counseling Program Directors 2019 Women of Excellence Award – Baylor College of Medicine 2017 Code Talker Nominee – Genome Magazine 2013 Outstanding Alumni Award – University of Texas-Houston Genetic Counseling Program Secretary/Treasurer – National Society of Genetic Counselors (2015) Secretary/Treasurer Elect – National Society of Genetic Counselors (2014) Professional Memberships: National Society of Genetic Counselors (NSGC) Texas Society of Genetic Counselors American College of Medical Genetics and Genomics (ACMG) American Society of Reproductive Medicine Certifications & Licensure: Certified Genetic Counselor – American Board of Genetic Counseling Licensed Genetic Counselor – Multiple states including California, Louisiana, Alabama, Arkansas, Oklahoma, and New Mexico

• Genetic Testing
• Embryonic Development
• Chromosome Disorders
• +۵ مورد دیگر

Veerle Berckmoes is a Researcher in the Department of Medical Genetics at Vrije Universiteit Brussel (Brussels, Belgium). Her work focuses on Preimplantation Genetic Testing (PGT) , Embryonic Development , and Chromosomal Disorders . Research Themes : Genetic Testing, Embryo Transfer, Blastocyst Analysis, Live Birth Rate Modeling, Chromosomal Mosaicism Key Publications : 2025 - APCAD method for meiotic aneuploidy detection; 2024 - heatmap of PGT outcomes; 2023 - long-term child health after embryo biopsy Collaborations : Active in Belgian Society for Human Genetics, ESHRE conferences, and multidisciplinary teams at UZ Brussel

• Molecular diagnostics
• Exome sequencing
• Array-CGH
• +۵ مورد دیگر

Daniela Del Gaudio is a Professor at the University of Chicago in the Department of Human Genetics. She specializes in developing molecular diagnostic technologies for genetic disorders, including neurodevelopmental conditions, congenital malformations, hereditary cancers, and endocrine disorders. Her laboratory employs next-generation sequencing (NGS) and exome sequencing to identify disease-causing variants, particularly in monogenic diabetes and congenital hyperinsulinism. B.Sc., University of Naples ‘Federico II’, 1999 Ph.D., University of Naples ‘Federico II’, 2004 ABMGG Certification in Clinical Molecular Genetics, 2007 Her research focuses on genotype-phenotype correlation studies to expand the mutational spectrum of genetic diseases, molecular mechanisms of novel mutations, and discovery of new disease genes. She has significant contributions to understanding monogenic disorders affecting insulin secretion through clinical and research work. The articles reflect her expertise in genetic disorders, particularly in endocrinology, hematology, and neurology, using NGS-based approaches. Key subfields include neonatal diabetes, Kabuki syndrome, telomere biology, hereditary cancer predisposition, and neurodevelopmental movement disorders.

• Cytogenetics
• Prenatal Diagnosis
• Postnatal Diagnosis
• +۳ مورد دیگر

Frédérique Tihy serves as an Assistant Clinical Professor in the Department of Pediatrics at the Faculty of Medicine, University of Montreal, and works as a cytogeneticist at CHU Sainte-Justine. She is certified by the Canadian College of Medical Geneticists (CCMG) in cytogenetics and maintains active roles in clinical diagnostics and academic training. Education: PhD in Cytogenetics, University of Paris XI Postdoctoral Training in Clinical Cytogenetics, CHU Sainte-Justine Research Expertise: Dr. Tihy specializes in advanced cytogenetic techniques including karyotype analysis, fluorescence in situ hybridization (FISH), and comparative genomic hybridization on microarray (CGH array). Her clinical focus spans prenatal and postnatal diagnosis of chromosomal abnormalities, with particular emphasis on complex rearrangements, subtelomeric variants, and copy number variations in fetuses and children with congenital malformations. Her methodological rigor has established critical protocols for detecting subtle chromosomal anomalies undetectable by standard karyotyping. Publication Trends: Her research from 2005-2014 demonstrates consistent innovation in diagnostic cytogenetics, transitioning from traditional FISH techniques to high-resolution array-based methods. Key contributions include establishing diagnostic criteria for subtelomeric rearrangements, validating array CGH for prenatal use, and elucidating genotype-phenotype correlations in neurodevelopmental disorders. Her work bridges technical methodology with clinical impact, particularly in cases of unexplained fetal malformations and developmental delay. Scientific Awards: No specific awards were documented in the source material. Leadership & Training: Dr. Tihy directs CCMG's training programs, chairs the Quebec Cytogenetics Association, and oversees master's-level genetic counseling laboratory internships. She contributes to national standards as a member of CCMG's Good Laboratory Practices Committee, shaping quality assurance protocols for clinical cytogenetics across Canada. Her mentorship extends to supervising graduate students in diagnostic laboratory settings. Laboratory Operations: She leads cytogenetic diagnostics within CHU Sainte-Justine's Medical Genetics Department, managing a high-volume laboratory that implements cutting-edge techniques for prenatal and postnatal chromosomal analysis. Her team maintains accreditation through rigorous adherence to CCMG standards while developing novel approaches for complex case resolution.

Kathleen S. Wilsonمشاهده پروفایل

استاد

• Clinical Cytogenetics
• Molecular Cytogenomics
• Genomic Microarray Analysis
• +۴ مورد دیگر

Kathleen S. Wilson, MD, is a Professor in the Department of Pathology and member of the McDermott Center for Human Growth and Development at the University of Texas Southwestern Medical Center. She is board-certified in Clinical Pathology and Clinical Cytogenetics and serves as Director of the Cytogenomic Microarray Analysis (CMA) laboratory, which she founded in 2008 as the first clinical CMA service in North Texas. Dr. Wilson obtained her undergraduate degree with honors from Amherst College (1986) and her MD from UT Southwestern (1991), followed by residency in Pathology and fellowship in Genetics, both at UT Southwestern. Her research integrates high-resolution genomic technologies with clinical diagnostics, focusing on chromosomal abnormalities in pediatric leukemias and solid tumors, constitutional genomic disorders, and the policy framework governing reimbursement for complex genetic tests. She has contributed to national proficiency-testing guidelines for cytogenomic microarray analysis and served on key policy committees of the College of American Pathologists and the American College of Medical Genetics. Across more than two decades her publications trace the evolution of cytogenomics: early works defined recurrent chromosomal alterations in uncommon lymphomas and leukemias, while recent studies exploit array-CGH to uncover cryptic driver lesions in embryonal rhabdomyosarcoma and to characterize dramatic chromothripsis events in pediatric AML. A parallel line of investigation explores the clinical impact of copy-number variants in neurodevelopmental conditions such as autism and PTEN-related cancer predisposition syndromes. Dr. Wilson has received teaching awards for her sustained commitment to medical and graduate education. She currently chairs the UT Southwestern Medical School Admissions Committee and co-directs the Medical Student Genetics Course, roles that complement her active mentorship of residents, fellows, and junior faculty. She maintains professional leadership positions including fellowship in the College of American Pathologists and the American College of Medical Genetics, and she continues to shape national laboratory standards through committee service and policy development.

Conny M.A. van Ravenswaaij-Artsمشاهده پروفایل

استاد

• Genetics & Heredity
• Clinical Genetics
• Dysmorphology
• +۵ مورد دیگر

Prof. Conny M.A. van Ravenswaaij-Arts is a Clinical Geneticist and Professor of Dysmorphology at the University of Groningen's Faculty of Medical Sciences, affiliated with the UMCG (University Medical Center Groningen). She specializes in rare genetic disorders, particularly CHARGE syndrome, Phelan-McDermid syndrome, and chromosome 6 aberrations. Her research focuses on genotype-phenotype correlations and improving diagnostic and clinical care for patients with genetic conditions. Education includes a medical degree from Leiden University (1986), pediatric training, and a PhD in 1993 on heart rate variability in preterm infants. She became a clinical geneticist in 1997 and clinical cytogeneticist in 2002. Key roles include coordinating the European Consortium on Phelan-McDermid syndrome and leading the Chromosome 6 Project. Research interests span clinical genetics, molecular cytogenetics, and translational research. Major projects include studies on CHD7 gene mutations in CHARGE syndrome, array CGH techniques, and intranasal insulin trials for Phelan-McDermid syndrome. She leads multidisciplinary clinics for rare chromosome disorders and CHARGE syndrome patients. Awards include the Stars-in-CHARGE Award (2015) and Honorary Membership from the German CHARGE Syndrome group (2016). She serves on editorial boards, including the European Journal of Medical Genetics, and advises international foundations. Her work emphasizes patient-centered care and international collaboration to advance rare disease understanding and treatment.

• Cancer Biology
• Neuro-Oncology
• Genomics
• +۵ مورد دیگر

Dr. Katherine Karakoula is a Senior Lecturer in Pharmacy Sciences at the University of Wolverhampton’s Faculty of Science and Engineering. She holds a PhD in Cancer Biology from the University of Leicester and has a distinguished career in molecular neuro-oncology, focusing on pediatric and adult brain tumors. PhD in Cancer Biology (University of Leicester) MSc in Molecular Genetics (University of Leicester) BSc (Hons) in Applied Biology (De Montfort University) Her research spans genetics and genomics of gliomas , epigenetic mechanisms in brain cancer , and metabolic therapies for malignant glioma. She collaborates with De Montfort University on drug repurposing strategies and has established the Neuro-Oncology Brain Tumour Research Centre at Wolverhampton. Her publications highlight trends in epigenetic regulation , metabolic reprogramming , and novel therapeutic targets for brain tumors. Key areas include FGFR1 signaling , hexokinase 2 in drug resistance, and genomic deletions in pediatric cancers. Fellow of the Higher Education Academy (2015) Dr. Karakoula supervises PhD, MSc, and BSc students at Wolverhampton, with past projects examining hypoxia effects , anti-angiogenic therapy resistance , and epigenetic silencing in astrocytoma. She has reviewed for journals like Drug Design, Development and Therapy and Carcinogenesis , and is a member of the British Neuro-Oncology Society .

Eva Klopockiمشاهده پروفایل

استاد

• Human Genetics
• Rare Diseases
• Copy Number Variations (CNVs)
• +۴ مورد دیگر

Professor Eva Klopocki serves as a Professor of Human Genetics at the Institute of Human Genetics within the Biocenter of the University of Würzburg. Her research group focuses on the genetic basis of congenital malformations, particularly limb and craniofacial abnormalities. She has established herself as a leading researcher in copy number variations (CNVs) and their role in human disease pathogenesis. Dr. Klopocki completed her biology studies at the University of Ulm (1994-2000), earned her doctorate in biology from the Free University of Berlin (2004), and obtained a part-time MBA in Biotechnology and Medical Engineering from the University of Potsdam (2005-2007). Prior to her current position, she led a research group at Charité University Medicine Berlin (2003-2012) and headed the Array-CGH Laboratory there (2006-2012). Her research program investigates how copy number alterations (CNVs) contribute to congenital malformations and rare diseases. She employs molecular karyotyping/microarray-based comparative genomic hybridization (array CGH) for genome-wide screening of CNVs. Her work spans multiple projects including the BMBF-funded FACE network studying craniofacial malformations, Philadelphia-type craniosynostosis research, and investigations into congenital limb malformations. Her team utilizes model systems such as zebrafish and mice to functionally validate genetic findings. Analysis of her publication record reveals consistent focus on non-coding regulatory elements in human disease, with recent work expanding into zebrafish modeling, induced pluripotent stem cell systems, and advanced genomic diagnostics. Her research bridges basic science with clinical applications, particularly in rare disease diagnosis. German Society for Human Genetics award European Society for Human Genetics award Professor Klopocki leads multiple research collaborations including the BMBF-funded FACE network for craniofacial malformations involving partners in Berlin, Essen, Freiburg, Cologne, and Tübingen. Her work on craniosynostosis involves collaboration with the Department of Neurosurgery and Pediatric Neurosurgery at the University of Würzburg. Her research group actively recruits patients with primary craniosynostosis and congenital limb malformations for genomic studies. Her laboratory employs array CGH analyses for genome-wide detection of CNVs, followed by whole-exome sequencing when necessary. Functional validation utilizes RNA in situ hybridization, immunohistochemical staining, and animal models including zebrafish for limb development studies. Her team has developed specialized custom arrays covering non-coding genomic regions with potential regulatory functions for genes involved in craniofacial development.

• Clinical Genetics
• Cytogenetics
• Prenatal Genetics
• +۳ مورد دیگر

Mary Ann Thomas serves as Associate Professor in both the Department of Medical Genetics and Department of Pediatrics at the University of Calgary. She maintains clinical practice through Alberta Health Services, where she co-leads the specialized 22q11.2 deletion syndrome clinic network at Alberta Children’s Hospital. Her educational credentials include: MD, CM Dr. Thomas's research centers on rare chromosome anomalies and prenatal genetics, with specific focus on clinical feature delineation in rare disorders and evaluation of emerging genetic testing technologies. Her work examines chromosome microarray (array CGH), whole exome sequencing, and non-invasive prenatal testing (NIPT) implementation within clinical practice, emphasizing responsible integration of these advanced diagnostics. She currently holds active research funding for prenatal genetic testing studies. While student mentorship details aren't specified in available materials, her clinical leadership in the 22q11.2 deletion syndrome network demonstrates commitment to specialized patient care pathways. Her clinical network provides comprehensive life-long management for 22q11.2 deletion syndrome patients, addressing associated genetic endocrine and hematological conditions alongside primary genetic manifestations.

• Clinical Human Cytogenetics
• Molecular Cytogenetic Technologies
• Chromosome Anomaly Characterization
• +۳ مورد دیگر

Judy Chernos serves as Associate Professor in the Department of Medical Genetics at the University of Calgary's Cumming School of Medicine, with primary laboratory operations at the Alberta Children's Hospital Cytogenetics Laboratory under Alberta Health Services. Her research focuses on clinical human cytogenetics , specializing in: Elucidating constitutional chromosome anomalies through FISH and array CGH Correlating clinical phenotypes with karyotypic abnormalities Characterizing genetic syndromes including 4q deletion and contiguous gene deletion disorders Her work bridges diagnostic cytogenetics with research through analysis of 3,000 annual specimens spanning developmental disorders and congenital anomalies. Current research is supported by the Alberta Children's Hospital Foundation through three active projects where she serves as Principal Investigator on two studies investigating balanced chromosomal rearrangements and 4q deletion syndrome, while co-investigating childhood obesity-related genetic syndromes. Teaching responsibilities span undergraduate to post-doctoral levels with emphasis on diagnostic methodology and clinical correlation. Her laboratory provides critical diagnostic services while generating research insights through high-volume specimen analysis.

• Medical Genetics
• Molecular Diagnostics
• Genetic Disorders
• +۳ مورد دیگر

Hakan GÜRKAN is a Professor at Trakya University's Faculty of Medicine, Department of Medical Genetics. His academic journey includes a Bachelor's degree (1998), Master's (2006), Ph.D. (2011), and post-doctoral studies (2012). He attained the rank of Associate Professor in 2015 and Professor in 2021, both at Trakya University. His research focuses on medical genetics , with emphasis on molecular diagnostics, genetic disorders (e.g., autism, thyroid cancer, cardiomyopathies), and genomic variations. He employs advanced techniques like next-generation sequencing and array CGH to investigate phenotype-genotype relationships in rare diseases. GÜRKAN's publications (2022–2024) reveal a strong focus on neurodevelopmental disorders, oncogenetics, and prenatal diagnostics. His work frequently addresses Turkish population-specific genetic variants and their clinical implications. Awards & Honors: Analysis of THRΒ Gene (2017) BRAFV600E mutation in thyroid cancer (2016) Factor X deficiency genetics (2016) Thrombophilia/recurrent miscarriage panels (2016) HLA-B polymorphism (2015) Toll-like receptor polymorphisms in atopic dermatitis (2015) He leads TÜBİTAK-funded projects (e.g., genetic screening in autism, Lynch syndrome) and serves on ethics committees. As an editorial board member for Balkan Medical Journal , he reviews genetics research. He also supervised a Master's thesis on MTHFR gene methylation in male infertility (2016).