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Philip BooneView profile

Academic

• Medical Genetics
• Genomics
• Pediatric Genetics
• +4 more

Philip Boone, MD, PhD, is an Attending Physician in the Division of Genetics and Genomics at Boston Children's Hospital and an Instructor of Pediatrics at Harvard Medical School. He specializes in medical genetics with particular expertise in rare disorders, medical mysteries, deletion and duplication syndromes, and Cornelia de Lange syndrome. Dr. Boone sees patients at Boston Children's Brookline location (2 Brookline Place, 7th Floor) and provides comprehensive genetic care including diagnostics, counseling, and individualized management. Stanford University (Undergraduate, 2006) Baylor College of Medicine (Graduate & Medical School, 2013-2014) Boston Combined Residency Program (Internship & Residency, 2016-2020) Harvard Medical School Genetics Training Program (Fellowship, 2020) Dr. Boone's research focuses on neurodevelopmental disorders, chromatin regulation, and genetic diagnostics. His work spans from fundamental genetic mechanisms to clinical applications, with particular emphasis on cohesinopathies including Cornelia de Lange syndrome. He has contributed significantly to understanding genetic variants associated with growth disorders, developmental features, and structural chromosomal abnormalities. His research combines advanced genomic technologies with clinical insights to improve diagnosis and management of rare genetic conditions. Analysis of Dr. Boone's publication record reveals a strong focus on medical genetics with emphasis on neurodevelopmental disorders, chromatin regulation, and genetic diagnostics. His work spans basic research on gene function and regulation to clinical applications in rare disease diagnosis. A notable trend is his investigation of cohesin complex disorders, particularly SMC3 variants and their relationship to Cornelia de Lange syndrome. His publications demonstrate expertise in both traditional genetic analysis and cutting-edge genomic technologies including long-read sequencing and telomere-to-telomere assembly. Dr. Boone actively contributes to medical education through publications on genetic diagnostics and distance learning resources for medical genetics. He has co-authored educational materials that help advance the field's knowledge base and training capabilities. As an attending physician in the Division of Genetics and Genomics at Boston Children's Hospital and a research fellow in the Center for Genomic Medicine at Massachusetts General Hospital, Dr. Boone works within one of the largest pediatric genetics practices in the country. The division includes over 30 board-certified clinical geneticists, genetic counselors, dieticians, and nursing staff who provide comprehensive care for patients with both common and extremely rare genetic conditions.

• Clinical Genetics
• Molecular Genetics
• Neurodevelopmental Disorders
• +7 more

Rob Willemsen is an Associate Professor in the Department of Clinical Genetics at Erasmus MC, a leading academic medical center in the Netherlands. His research is centered on the molecular and genetic basis of neurodevelopmental and inherited disorders, with a focus on fragile X syndrome and related conditions. He employs advanced models such as zebrafish and in vivo systems to investigate gene regulation, methylation dynamics, and disease mechanisms. His research interests span clinical genetics , molecular genetics , neurodevelopmental disorders , epigenetic regulation , and rare genetic diseases . Using zebrafish models, he explores gene function and pathogenic variants associated with conditions like pediatric cardiomyopathy, hereditary spastic paraplegia, and refractive errors. His work often bridges basic science with translational applications, including drug testing in preclinical models. The trends in his recent publications indicate a strong focus on gene discovery , functional genomics , and therapeutic intervention for monogenic disorders. His studies frequently involve international collaborations and multidisciplinary teams, leveraging high-throughput sequencing, transcriptomics, and animal modeling to validate candidate genes from GWAS and clinical findings. Rob Willemsen has supervised 14 research projects, indicating an active role in mentoring students and junior researchers. He has received significant attention for his work, with mentions in news outlets and citations in major journals, though specific grants or funding sources are not detailed in the text. His collaborations span multiple institutions and countries, reflecting a broad scientific network. His research is conducted within the Clinical Genetics department at Erasmus MC, where he contributes to both fundamental research and potential clinical applications. While no specific lab name is mentioned, his work involves molecular and cellular analysis, animal models, and collaboration with clinical teams to translate findings into patient care.

• Ophthalmology and optometry
• Clinical sciences
• Genetics
• +2 more

Professor Andrew Webster holds the position of Professor of Molecular Ophthalmology at the UCL Institute of Ophthalmology, University College London, where he leads research at the critical intersection of clinical ophthalmology and molecular genetics to advance understanding of inherited retinal diseases. His academic foundation includes a Bachelor of Arts from the University of Cambridge (1984), Bachelor of Medicine and Bachelor of Surgery from the University of Oxford (1987), and Master of Arts from Cambridge (1988). He achieved professional recognition through Fellowships from the Royal College of Surgeons (1989) and Royal College of Ophthalmologists (1991). Webster's research spans Ophthalmology and Optometry, Clinical Sciences, Genetics, Neurosciences, and Public Health, with concentrated expertise in molecular mechanisms of inherited retinal disorders. His work integrates advanced imaging modalities with genomic analysis to characterize disease progression and identify genotype-phenotype correlations, particularly in conditions like retinitis pigmentosa and Usher syndrome. Recent publications reveal a dominant trend toward large-scale collaborative studies, including analysis of over 3,500 patients with inherited retinal disease. His team pioneers AI-driven phenotyping approaches like Eye2Gene while establishing natural history frameworks for specific genetic forms of retinal dystrophy, significantly advancing precision medicine in ophthalmology.

Battaglia Parodi MaurizioView profile

Associate Professor

• Medical Retina
• Age-Related Macular Degeneration
• Diabetic Retinopathy
• +5 more

Battaglia Parodi Maurizio is an Associate Professor at Vita-Salute San Raffaele University, specializing in Ophthalmology (MED/30 - MEDS-17/A). His research focuses on medical retina, with expertise in age-related macular degeneration, diabetic retinopathy, retinal vein occlusions, degenerative myopia, and dystrophies. He has authored 222 publications in PubMed/Scopus and 3 books, and serves as a Principal Investigator in international clinical trials. Education: MD (summa cum laude) from University of Genoa (1986), Ophthalmology specialization (summa cum laude) from University of Trieste (1990) His work leverages multimodal retinal imaging to analyze retinal pathologies, including Müller cell dynamics, photoreceptor integrity in inflammatory diseases, and genotype-phenotype correlations in genetic retinopathies. Recent publications highlight advancements in neurovisual rehabilitation and imaging biomarkers for retinal diseases. Scientific contributions include the Premio Progetto Ricerca Scientifica SOI (2017) and Fellowship from the European Board of Ophthalmology (since 2016). He also directs the European Ophthalmic Review (since 2016) and chairs the Fellowships Section at the European School for Advanced Study in Ophthalmology.

• Retinal Development
• Synaptic Connectivity
• Stem Cell-Derived Retinal Organoids
• +6 more

Aaron Nagiel, MD, PhD is an Assistant Professor of Ophthalmology at the Keck School of Medicine, University of Southern California . He leads the Nagiel Laboratory at Children’s Hospital Los Angeles , focusing on retinal development and disease mechanisms using human stem cell-derived retinal organoids. His work integrates live imaging, electrophysiology, and gene editing to study synaptogenesis and evaluate therapies like gene augmentation and small-molecule Hippo inhibition. Academic Affiliation : USC Department of Ophthalmology Lab : Nagiel Laboratory at Children's Hospital LA Research Collaborations : David Cobrinik, Thomas Lee, Jennifer Aparicio, Ksenia Gnedeva Research Themes : Human retinal synaptogenesis Gene therapy for inherited retinal diseases Hippo pathway inhibition for retinal regeneration Pediatric ocular disease mechanisms Retinal organoid modeling Scientific Awards : RPB Career Development Award (2021-2023) Baxter Foundation Fellowship (2019-2020) Allergan FIRST Fellowship (2016-2019) Michels Foundation Fellowship (2016-2017) Heed Foundation Fellowship (2015-2016) Jules Stein Pepose-Saltzman Award (2014-2015) Publications demonstrate expertise in: Retinal disease genetics (RPE65, MPDZ, ALMS1) Gene editing applications Retinal imaging biomarkers Pediatric gene therapy delivery Retinal degeneration mechanisms

• Genetics
• Optical Coherence Tomography
• Best Corrected Visual Acuity
• +5 more

Dr. Alberta Thiadens is a Researcher in the Department of Ophthalmology at Erasmus MC in Rotterdam, Netherlands. Her work focuses on inherited retinal diseases, genetic disorders affecting vision, and advanced ophthalmic imaging techniques. Dr. Thiadens' research interests span multiple areas of ophthalmology and genetics: Genetic basis of retinal dystrophies and inherited eye diseases Application of exome sequencing in ophthalmic diagnostics Optical coherence tomography and advanced retinal imaging Visual acuity measurement and assessment Autofluorescence imaging in retinal disorders Clinical features and treatment outcomes of ocular diseases Her recent publications demonstrate a strong focus on the intersection of genetics and ophthalmology, particularly in understanding the molecular mechanisms of retinal dystrophies and developing improved diagnostic approaches. She frequently collaborates on international studies examining rare genetic eye conditions across diverse populations and has contributed to research on ocular tuberculosis with cross-cultural comparisons between the Netherlands and Indonesia. Dr. Thiadens maintains an active research profile with multiple publications scheduled for 2025, reflecting her ongoing contributions to the field of ophthalmology and vision science. She has supervised doctoral research as indicated by the 'Supervised Work (1)' listing in her profile, demonstrating her role in mentoring the next generation of ophthalmic researchers.

• Medical Genetics
• Hereditary Cancer Syndromes
• Neurogenetics
• +5 more

Selma DEMİR is an Assistant Professor in the Department of Medical Genetics at Trakya University Faculty of Medicine, where she has served since July 2017. Her academic foundation includes a Doctoral Degree (2011), Master's Degree (2005), and Bachelor's Degree (2003). Her research focuses on medical genetics with emphasis on hereditary cancer syndromes, neurogenetics, chromosomal abnormalities, and rare genetic disorders. Key areas include molecular diagnostics of neurofibromatosis type 1, hereditary hemorrhagic telangiectasia, DOORS syndrome, and Turkish population-specific genetic variants. She employs advanced techniques including array CGH, targeted resequencing, and MLPA for genetic analysis. Analysis of her 15 most recent publications reveals strong focus on Turkish patient populations, novel pathogenic variant discovery, and genotype-phenotype correlations across diverse conditions including cancer syndromes, neurodevelopmental disorders, and dermatological conditions. Her work frequently addresses population-specific genetic architecture in Thrace region. En iyi sözlü sunum ödülü (2017, Ege University) Sözlü sunum üçüncülük ödülü (2016, Erciyes University) Tübitak Ulusal Bilim Teşvik Ödülü (2006) Her funded projects include TÜBAP-2015-161 on mitochondrial DNA mutations in migraine patients, completed research on copy number variations in azoospermic males (2014-2017), and ongoing studies of genetic predisposition in differentiated thyroid cancer patients in Trakya region. While no formal students are listed, her collaborative work includes extensive research teams across Turkish institutions focusing on clinical genetics applications.

• Neurogenetics
• Inherited Peripheral Neuropathies
• Genetic Linkage Analysis
• +4 more

Professor Marina Kennerson is a leading academic at the University of Sydney , affiliated with the Faculty of Medicine and Health and the School of Medical Sciences . She serves as Director of the Northcott Neuroscience Laboratory (ANZAC Research Institute), Principal Hospital Scientist at Concord Hospital's Molecular Medicine Laboratory, and Deputy Director (Research) for the Sydney Local Health District Institute of Precision Medicine and Bioinformatics. Her work focuses on Neurogenetics , particularly identifying causative genes for Inherited Peripheral Neuropathies (IPN), with over 25 years of experience in the field. Research Interests Gene discovery for IPN using genetic linkage and next-generation sequencing Functional genomics via iPSC-derived motor neurons and C. elegans models Transition of genomic technologies to clinical neurogenetic testing Leadership in global consortia like the Peripheral Nerve Society and Asian Oceanic Inherited Neuropathy Consortium Scientific Contributions Her research program integrates multiomics approaches with AI tools to analyze genomic data. She has identified 10 causative IPN genes and two structural variation mutations (DHMN1 and CMTX3), advancing pre-clinical modeling and therapeutic development. Her lab's work has established Concord Hospital as a reference center for IPN testing in Australia. Collaborations International partnerships include collaborations with: University of Malaya (Malaysia) – Dr. Azlina Ahmad-Annuar and Dr. Nortina Shahrizaila University of Miami (USA) – Professor Stephan Zuchner

• Genetics
• Neurology
• Rare Diseases
• +3 more

Professor Rita Horvath is a faculty member at Newcastle University, holding the rank of Professor. Her research focuses on the intersection of genetics, neurology, and rare diseases, with particular emphasis on mitochondrial and neuromuscular disorders. She is actively contributing to the field through numerous publications in high-impact journals and collaborations across Europe. Her primary research areas include: Genetics of rare diseases, especially mitochondrial disorders and neuromuscular conditions Genomic reanalysis and variant interpretation in large cohorts Investigating genotype-phenotype correlations in neurodevelopmental and neuropathic pain disorders Improving diagnostic yield for conditions like spinal muscular atrophy Studying molecular mechanisms of disease through proteomics and functional assays Professor Horvath's work often involves pan-European collaborations and leverages large genomic datasets to uncover new diagnoses and understand disease mechanisms. The recent publications (2021-2025) demonstrate a strong focus on genomic approaches to rare disease diagnosis, with particular attention to mitochondrial disorders (e.g., OPA1, TARS2, MICU1) and neuromuscular conditions (e.g., spinal muscular atrophy, GNE myopathy). There is a recurring theme of reanalysis of genomic data to identify missed diagnoses and the use of functional studies to elucidate molecular mechanisms. Her work also addresses health equity by including under-represented populations. No scientific awards were mentioned in the provided text. No information on advising or grants was provided. No information on labs or research teams was provided.

Kathryn GravesView profile

Associate Professor

• Equine Genetics
• Canine Hereditary Diseases
• Molecular Diagnostics
• +4 more

Kathryn Graves serves as Associate Professor and Director of Genetic Testing within the Department of Veterinary Science at the University of Kentucky's Martin-Gatton College of Agriculture, Food and Environment. Based at the Gluck Equine Research Center, her work bridges equine and canine genetics with direct clinical applications. Her research focuses on equine genetic disorders including epidermolysis bullosa in American Saddlebreds and ACAN dwarfism, alongside canine hereditary cataracts in Boston Terriers. Using advanced genomic techniques like whole genome sequencing and qPCR assay development, her laboratory identifies causative mutations and develops diagnostic tools for breeders and veterinarians. Recent publications reveal strong trends in molecular diagnostic development (2022 qPCR assay for equine arteritis virus carriers) and population genomics (2013 studies on modern horse diversity). Her work consistently connects basic genetic discoveries to practical veterinary applications, particularly in equine reproductive health and inherited disorders. As Principal Investigator on three AKC Canine Health Foundation grants (2002-2022), she has led significant projects on Boston Terrier cataracts and canine genetic markers. Her research program demonstrates sustained funding success with longitudinal focus on hereditary disease mechanisms. Dr. Graves' laboratory operates within the Gluck Equine Research Center's Genetic Testing Lab, providing specialized diagnostic services while advancing fundamental understanding of genetic disorders in performance horses and companion animals. Her collaborative approach is evident in multi-institutional publications involving veterinary diagnostic laboratories and equine research centers globally.

• Genetics
• Molecular Biology
• Genetic Screening
• +6 more

Marloes Stok-Benjamins is a researcher active in the fields of Genetics , Molecular Biology , and Genomic Medicine . Her work focuses on advancing genetic screening technologies, rare disease research, and data infrastructure for large-scale studies. She has contributed to peer-reviewed journals and open-access publications, often collaborating on interdisciplinary projects. Her recent research includes pharmacogenetic passports for personalized medicine and SNP array analysis of genetic disorders. She has explored exome sequencing applications in pediatric conditions like dilated cardiomyopathy and spinocerebellar ataxia, emphasizing clinical diagnostics and public health impact. Publications highlight her role in consortia such as SOLVE-RD and Lifelines NEXT . Research trends indicate expertise in genetic mechanisms (e.g., uniparental disomy, copy number variants), high-throughput genomic technologies (exome/SNP arrays), and data systems for rare disease studies. Her work aligns with SDGs related to health and well-being.

• Immunology
• Microbiology
• Genetics
• +3 more

Suzanna Lindsey-Temple serves as an Adjunct Senior Lecturer in the School of Biomedical Sciences at The University of Western Australia, specializing in Medical Science and Genetics. Her research bridges immunology, microbiology, and human genetics with clinical applications. Her research focuses on genetic susceptibility to infectious and inflammatory diseases, particularly examining polymorphisms in cytokine genes (TNFα, IL-10), purinergic receptors (P2X4R, P2X7R), and adrenergic pathways. Key areas include HIV-associated neuropathy , pulmonary non-tuberculous mycobacterial diseases , and asthma pathogenesis , with emphasis on haplotype analysis and functional genomics. Analysis of her 27 research outputs (2014-2023) reveals consistent work on gene-disease associations using immunogenetic approaches, with significant contributions to understanding host genetic factors in infectious disease susceptibility and inflammatory responses. Her work spans basic molecular mechanisms to clinical implications. As Chief Investigator on four research projects between 2004-2006, she secured funding from The University of Western Australia and The Ian Potter Foundation for studies on interleukin polymorphisms, HIV replication, MIF function in bacterial infection, and international conference travel. Her h-index of 13 (697 citations) reflects substantial scholarly impact in immunogenetics.

Yadollah HaratiView profile

Professor

• Neuromuscular disorders
• Amyotrophic lateral sclerosis
• Diabetic neuropathy
• +5 more

Yadollah Harati, M.D., is a Professor of Neurology at Baylor College of Medicine, where he also serves as Director of the Neuromuscular Disease Center and Program Director for the Neuromuscular Diseases Fellowship Program. His academic roles include clinical care, research, and training in neuromuscular disorders. Dr. Harati holds certifications in Neurology and Neuromuscular Medicine from the American Board of Psychiatry and Neurology, and Autonomic Disorders from the United Council for Neurologic Subspecialties. He completed his medical degree (MD) at the University of Tehran, followed by residency training at the University of Nebraska Medical Center and Baylor College of Medicine. His clinical interests focus on neuromuscular disorders such as amyotrophic lateral sclerosis (ALS), myasthenia gravis, diabetic neuropathy, and peripheral neuropathy. He is also expert in nerve and muscle biopsy techniques, autonomic nervous system testing, and polymyositis/dermatomyositis. Dr. Harati’s research spans clinical neurology, neuromuscular disease mechanisms, and neurodegenerative processes. His articles address topics like ALS progression, diabetic neuropathy pathophysiology, and the role of genetic mutations in neurodegenerative diseases. His work emphasizes translating research findings into clinical practice, particularly in managing complex neuromuscular conditions. Advising: No formal student advising list provided. Labs/Teams: Leads the Neuromuscular Disease Center at Baylor, a prominent clinical and research hub. Grants: No specific grants listed in provided text.

• Auditory Neuroscience
• Molecular Biology of Deafness
• Genetics of Hearing Disorders
• +3 more

Dr Prathamesh Thangaraj Nadar Ponniah is a Research Fellow at the MDNL group within the School of Medical Sciences , University of Sydney , affiliated with the Kolling Institute . His work focuses on the molecular mechanisms underlying auditory disorders with translational applications. Research Focus: Pathophysiology of Meniere's disease, genetics of hearing loss, and molecular biology of inner ear development Key Approaches: Mouse models, cellular/molecular studies, and single-cell analysis Recent publications highlight his expertise in RNA-binding proteins, cochlear regeneration, and noise-induced hearing loss vulnerability. His research has attracted multiple competitive travel awards and research grants. Scientific Honors 2024 Research Support Grant (Royal North Shore Hospital) 2018 MBHD Travel Award (Göttingen, Germany) 2017 Constantiner Travel Scholarship (Tel Aviv, Israel) 2015 Aegean Conference Travel Award (Crete, Greece) 2015 Third Prize at Technion's Inter-Lab Competition 2014 Best Proposal at Technion's Inter-Lab Competition Dr Nadar Ponniah supervises students including Pablo Cruz-Granados, with a focus on single-cell multiome analysis of immune responses in Meniere's disease patients. His work contributes to the Neurosciences and Mental Health theme at his institution.

Richard J. SmithView profile

Professor

• Inherited Hearing Impairment
• Genetic Deafness
• Non-syndromic Hearing Loss
• +16 more

Richard J. Smith, MD, is a Professor at the University of Iowa, holding appointments in the Department of Otolaryngology, Internal Medicine, Pediatrics, Molecular Physiology and Biophysics, and Anatomy and Cell Biology within the Carver College of Medicine. He directs the Molecular Otolaryngology and Renal Research Laboratories (MORL) and is a key figure in the Iowa Institute of Human Genetics. His work bridges clinical otolaryngology and molecular genetics. BA in Biochemistry, Rice University MD, Baylor College of Medicine Internship and General Surgery Residency, University of Texas Health Science Center Otolaryngology Residency, Baylor College of Medicine Pediatric Otolaryngology Fellowship, The Hospital for Sick Children, London Postdoctoral Fellowship, Medical Research Council Institute of Hearing Research, Nottingham Dr. Smith’s research centers on the genetics of inherited hearing loss and complement-mediated renal diseases. His lab investigates both syndromic and non-syndromic forms of deafness, employing linkage analysis, mutation screening, and functional studies in mouse models. A major focus is on gene discovery and developing RNAi-based therapies for hearing restoration. Concurrently, his team studies MPGN II (Dense Deposit Disease) and atypical HUS, exploring the role of complement dysregulation and its links to age-related macular degeneration. His work has significant implications for diagnosis, prognosis, and treatment of these rare disorders. The recent publications highlight a strong trend in genetic discovery in hearing loss (e.g., CLRN2 , MYO15A ) and mechanistic insights into complement pathway disorders. Collaborative clinical consensus statements reflect leadership in pediatric otolaryngology and airway management. Research spans molecular genetics, functional genomics, immunology, and translational therapeutics. Dr. Smith is actively involved in mentoring through multiple graduate programs including Biomedical Science, Genetics, Neuroscience, and the Medical Scientist Training Program. He leads a multidisciplinary research team at MORL and has contributed to national and international guidelines. His work is supported by institutional affiliations with the Center for Biocatalysis and Bioprocessing and the Iowa Institute of Human Genetics. Future directions include expanding genetic testing (e.g., PHASE Program), refining RNAi therapies, and developing targeted complement inhibitors. Laboratory: Molecular Otolaryngology and Renal Research Laboratory (MORL)