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Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

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Title: Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Authors: Brünger T; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kim S; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Myers SJ; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA., Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Taylor G; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA., Perez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile., Macnee M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany., Schorge S; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Dahl RS; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Yuan H; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA., Perszyk RE; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA., Kim S; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA., Bajaj S; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia., Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA., Farrant M; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Wollmuth L; Department of Neurobiology & Behavior and Biochemistry & Cell Biology, Center for Nervous System Disorders, Stony Brook University, Stony Brook, NY, USA., Wyllie DJA; Institute for Neuroscience and Cardiovascular Research, University of Edinburgh, Edinburgh, UK., Kurganov E; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA., Baez D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA., Zuberi S; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK., Boßelmann CM; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany., Mantegazza M; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France., Cestèle S; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Ivaniuk A; Department of Neurology, Mayo Clinic in Florida, Jacksonville, Fl, 32224, USA., Meskis MA; Dravet Syndrome Foundation, Cherry Hill, NJ, USA., Hood V; Dravet Syndrome Foundation, Cherry Hill, NJ, USA., Schust L; FamilieSCN2A Foundation 501(c)(3), Gettysburg, PA, USA., Goodspeed K; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Kang JQ; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA., Freed A; SLC6A1 Connect, 1939 Temperence Hill Drive, Frisco, TX 75034, USA., Gati C; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA., Montanucci L; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA., Wuster A; BioMarin Pharmaceutical Inc., Novato, CA, USA., Trinidad M; Innovative Genomics Institute, University of California, Berkeley, CA, USA, 94720., Froelich S; BioMarin Pharmaceutical Inc., Novato, CA, USA., Deng AT; NHS South East Genomic Medicine Service, Guy's and St Thomas's NHS Foundation Trust, London SE1 9RT, UK., Serrano ÁA; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain., Borovikov A; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Russia., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA., Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK., Danvoye L; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Charleroi, Belgium., Balci TR; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Department of Pediatrics, Division of Medical Genetics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A3K7, Canada., Hagebeuk EEO; Stichting Epilepsie Instellingen Nederland (SEIN), Department of Pediatric Neurology, Heemstede, The Netherlands., Heidlebaugh A; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA.; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA., Oetjens K; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA., Hoffman TL; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Williams SD; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada., Howell KB; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Khoury J; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Benke TA; Department of Pediatrics, Neurology and Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ramsey A; Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada., Manaster L; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA., Malepati S; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA., Fox P; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA., Noebels J; Blue Bird Circle Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Chung W; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Poduri A; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Stripe LL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA., Cohen S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA., Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Boesch S; Center for rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Wilmarth O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Inova Health System, Falls Church, VA, USA., Prentice AJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA., Cha E; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Budnik N; The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hommersom MP; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands., Kramer A; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA., Vanoye CG; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Zhang GQ; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA., Nothnagel M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; University Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany., Palotie A; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Daly MJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA., George AL Jr; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA., Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Brunklaus A; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK., Traynelis SF; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, member of ERN EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Lal D; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Center for Innovation in Health Informatics, Cook Children's Health Care System, Fort Worth, TX, USA.; Department of Bioengineering and Department of Computer Science and Engineering, University of Texas at Arlington, Arlington, TX, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 06. Date of Electronic Publication: 2026 Mar 06.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 41822692
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
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  Data: Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Brünger+T%22">Brünger T</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Klöckner+C%22">Klöckner C</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Myers+SJ%22">Myers SJ</searchLink>; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Johannesen+KM%22">Johannesen KM</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Stefanski+A%22">Stefanski A</searchLink>; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+G%22">Taylor G</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Perez-Palma+E%22">Perez-Palma E</searchLink>; Universidad del Desarrollo, Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile.<br /><searchLink fieldCode="AU" term="%22Macnee+M%22">Macnee M</searchLink>; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.<br /><searchLink fieldCode="AU" term="%22Schorge+S%22">Schorge S</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Dahl+RS%22">Dahl RS</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Yuan+H%22">Yuan H</searchLink>; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Perszyk+RE%22">Perszyk RE</searchLink>; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Bajaj+S%22">Bajaj S</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia.<br /><searchLink fieldCode="AU" term="%22Pan+JQ%22">Pan JQ</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Farrant+M%22">Farrant M</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Wollmuth+L%22">Wollmuth L</searchLink>; Department of Neurobiology & Behavior and Biochemistry & Cell Biology, Center for Nervous System Disorders, Stony Brook University, Stony Brook, NY, USA.<br /><searchLink fieldCode="AU" term="%22Wyllie+DJA%22">Wyllie DJA</searchLink>; Institute for Neuroscience and Cardiovascular Research, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Kurganov+E%22">Kurganov E</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Baez+D%22">Baez D</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zuberi+S%22">Zuberi S</searchLink>; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Boßelmann+CM%22">Boßelmann CM</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lerche+H%22">Lerche H</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mantegazza+M%22">Mantegazza M</searchLink>; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France.<br /><searchLink fieldCode="AU" term="%22Cestèle+S%22">Cestèle S</searchLink>; Université Côte D'azur, CNRS UMR7275, Inserm U1323, Institute of Molecular and Cellular Pharmacology, Valbonne - Sophia Antipolis, France.<br /><searchLink fieldCode="AU" term="%22May+P%22">May P</searchLink>; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Ivaniuk+A%22">Ivaniuk A</searchLink>; Department of Neurology, Mayo Clinic in Florida, Jacksonville, Fl, 32224, USA.<br /><searchLink fieldCode="AU" term="%22Meskis+MA%22">Meskis MA</searchLink>; Dravet Syndrome Foundation, Cherry Hill, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Hood+V%22">Hood V</searchLink>; Dravet Syndrome Foundation, Cherry Hill, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Schust+L%22">Schust L</searchLink>; FamilieSCN2A Foundation 501(c)(3), Gettysburg, PA, USA.<br /><searchLink fieldCode="AU" term="%22Goodspeed+K%22">Goodspeed K</searchLink>; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kang+JQ%22">Kang JQ</searchLink>; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA.<br /><searchLink fieldCode="AU" term="%22Freed+A%22">Freed A</searchLink>; SLC6A1 Connect, 1939 Temperence Hill Drive, Frisco, TX 75034, USA.<br /><searchLink fieldCode="AU" term="%22Gati+C%22">Gati C</searchLink>; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA.<br /><searchLink fieldCode="AU" term="%22Montanucci+L%22">Montanucci L</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Wuster+A%22">Wuster A</searchLink>; BioMarin Pharmaceutical Inc., Novato, CA, USA.<br /><searchLink fieldCode="AU" term="%22Trinidad+M%22">Trinidad M</searchLink>; Innovative Genomics Institute, University of California, Berkeley, CA, USA, 94720.<br /><searchLink fieldCode="AU" term="%22Froelich+S%22">Froelich S</searchLink>; BioMarin Pharmaceutical Inc., Novato, CA, USA.<br /><searchLink fieldCode="AU" term="%22Deng+AT%22">Deng AT</searchLink>; NHS South East Genomic Medicine Service, Guy's and St Thomas's NHS Foundation Trust, London SE1 9RT, UK.<br /><searchLink fieldCode="AU" term="%22Serrano+ÁA%22">Serrano ÁA</searchLink>; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain.<br /><searchLink fieldCode="AU" term="%22Borovikov+A%22">Borovikov A</searchLink>; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia.<br /><searchLink fieldCode="AU" term="%22Sharkov+A%22">Sharkov A</searchLink>; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Russia.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hajianpour+MJ%22">Hajianpour MJ</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA.<br /><searchLink fieldCode="AU" term="%22Pal+DK%22">Pal DK</searchLink>; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.<br /><searchLink fieldCode="AU" term="%22Danvoye+L%22">Danvoye L</searchLink>; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium.<br /><searchLink fieldCode="AU" term="%22Lederer+D%22">Lederer D</searchLink>; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Charleroi, Belgium.<br /><searchLink fieldCode="AU" term="%22Balci+TR%22">Balci TR</searchLink>; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Department of Pediatrics, Division of Medical Genetics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A3K7, Canada.<br /><searchLink fieldCode="AU" term="%22Hagebeuk+EEO%22">Hagebeuk EEO</searchLink>; Stichting Epilepsie Instellingen Nederland (SEIN), Department of Pediatric Neurology, Heemstede, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heidlebaugh+A%22">Heidlebaugh A</searchLink>; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA.; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.<br /><searchLink fieldCode="AU" term="%22Oetjens+K%22">Oetjens K</searchLink>; Department of Developmental Medicine, Geisinger, Danville, PA 17837, USA.<br /><searchLink fieldCode="AU" term="%22Hoffman+TL%22">Hoffman TL</searchLink>; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.<br /><searchLink fieldCode="AU" term="%22Williams+SD%22">Williams SD</searchLink>; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.<br /><searchLink fieldCode="AU" term="%22van+Engelen+K%22">van Engelen K</searchLink>; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Khoury+J%22">Khoury J</searchLink>; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Benke+TA%22">Benke TA</searchLink>; Department of Pediatrics, Neurology and Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Strehlow+V%22">Strehlow V</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Ramsey+A%22">Ramsey A</searchLink>; Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Manaster+L%22">Manaster L</searchLink>; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.<br /><searchLink fieldCode="AU" term="%22Malepati+S%22">Malepati S</searchLink>; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.<br /><searchLink fieldCode="AU" term="%22Fox+P%22">Fox P</searchLink>; CACNA1A Foundation, Inc., 31 Point Rd, Norwalk, CT 06854, USA.<br /><searchLink fieldCode="AU" term="%22Noebels+J%22">Noebels J</searchLink>; Blue Bird Circle Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Chung+W%22">Chung W</searchLink>; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Stripe+LL%22">Stripe LL</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Ruggiero+SM%22">Ruggiero SM</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Cohen+S%22">Cohen S</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Smith+L%22">Smith L</searchLink>; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Boesch+S%22">Boesch S</searchLink>; Center for rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Wilmarth+O%22">Wilmarth O</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.; Inova Health System, Falls Church, VA, USA.<br /><searchLink fieldCode="AU" term="%22Prentice+AJ%22">Prentice AJ</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Cha+E%22">Cha E</searchLink>; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Budnik+N%22">Budnik N</searchLink>; The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hommersom+MP%22">Hommersom MP</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kramer+A%22">Kramer A</searchLink>; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA.<br /><searchLink fieldCode="AU" term="%22Vanoye+CG%22">Vanoye CG</searchLink>; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+GQ%22">Zhang GQ</searchLink>; Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Nothnagel+M%22">Nothnagel M</searchLink>; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; University Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Palotie+A%22">Palotie A</searchLink>; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Daly+MJ%22">Daly MJ</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22George+AL+Jr%22">George AL Jr</searchLink>; Department of Pharmacology and Physiology, University of Maryland School of Medicine, Baltimore, MD 20201, USA.<br /><searchLink fieldCode="AU" term="%22Zarate+YA%22">Zarate YA</searchLink>; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Brunklaus+A%22">Brunklaus A</searchLink>; School of Health and Wellbeing and Royal Hospital for Children University of Glasgow, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Traynelis+SF%22">Traynelis SF</searchLink>; Department of Pharmacology and Chemical Biology, and the Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, member of ERN EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Lemke+JR%22">Lemke JR</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Lal+D%22">Lal D</searchLink>; Cologne Center for Genomics (CCG), University of Cologne, Cologne, 50931, Germany.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA.; Center for Neurogenetics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Center for Innovation in Health Informatics, Cook Children's Health Care System, Fort Worth, TX, USA.; Department of Bioengineering and Department of Computer Science and Engineering, University of Texas at Arlington, Arlington, TX, USA.
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Mar 06. <i>Date of Electronic Publication: </i>2026 Mar 06.
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  Data: Journal Article; Preprint
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.64898/2026.03.05.26347086
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      – Code: eng
        Text: English
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      – TitleFull: Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
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              Text: 2026 Mar 06
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              Y: 2026
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            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
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