Zobrazeno 1 - 10
of 2 116
pro vyhledávání: '"Juusola J"'
Autor:
Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Mansilla Aparicio E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., García Santiago FA; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Klotz CM; Swedish Medical Center, Maternal and Fetal Specialty Center, Seattle, Washington, USA., Regojo RM; Department of Pathology, La Paz University Hospital, Madrid, Spain., Anguita E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Instituto de Investigaciones Biomedicas Sols-Morreale (IIBM), CSIC-UAM, Madrid, Spain., Ryan E; GeneDx, Gaithersburg, Maryland, USA., Juusola J; GeneDx, Gaithersburg, Maryland, USA., Herrero B; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Cazalla M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Rodriguez-González R; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Antolín E; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Ruiz-Perez VL; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium.; Instituto de Investigaciones Biomedicas Sols-Morreale (IIBM), CSIC-UAM, Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 713-720. Date of Electronic Publication: 2024 Aug 27.
Autor:
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.
Autor:
Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA., Jux B; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn, 53012, Germany., Zhao S; Department of Genetics, School of Medicine, Washington University, St. Louis, MO, 63110, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Mekbib KY; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA., Dennis E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, 10065, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, 06510, USA., Mehta NH; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Shohfi JP; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Juusola J; GeneDx, Gaithersburg, MD, 20877, USA., Allington G; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Marlin S; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, Paris Descartes, Sorbonne Paris Cité University, Paris, 75013, France., Belhous K; Department of Radiology, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris, 75004, France., Monteleone B; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY, 11501, USA., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 77205, USA., Pisarska MD; Department of Obstretrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA., Vásquez J; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY, 11501, USA., Estrada-Veras JI; Department of Surgery, Henry M Jackson Foundation for the Advancement of Military Medicine and Uniformed Services University of the Health Sciences, Bethesda, MD, 20817, USA.; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA., Keren B; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, 75013, France., Mignot C; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, 75013, France., Flore LA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, and Central Michigan University College of Medicine, Mount Pleasant, MI, 48858, USA., Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, 38700, France., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, 02115 USA.; Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, 10065, USA., Haider S; School of Pharmacy, University College London, London, WC1E 6BT, UK., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, ON, K7L 3N6, Canada., Jin SC; Department of Genetics, School of Medicine, Washington University, St. Louis, MO, 63110, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 063110, USA., Kolanus W; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn, 53012, Germany., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease research, Department of pediatrics, and Howard Hughes Medical institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA, 02114, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 04. Date of Electronic Publication: 2024 Jun 04.
Autor:
Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., de Ravel TJL; Centre for Human Genetics, UZ Leuven/Leuven University Hospitals, Leuven, Belgium., Fusaro V; Invitae, San Francisco, CA, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, USA., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Korenke GC; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Humberson J; University of Virginia Health System, Charlottesville, VA, USA., Napier MP; GeneDx, Gaithersburg, MD, USA., Hoffman J; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, USA., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA., Rockowitz S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dortenzio V; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Divison of Neurology, Boston Children's Hospital, Boston, MA, USA., Rothfelder K; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, USA; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: philip.boone@childrens.harvard.edu.
Publikováno v:
HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100273. Date of Electronic Publication: 2024 Jan 30.
Autor:
Berthoumieux A; Omada Health Inc, San Francisco, California., Linke S; Omada Health Inc, San Francisco, California., Merry M; Omada Health Inc, San Francisco, California., Megliola A; Omada Health Inc, San Francisco, California., Juusola J; Anchor Outcomes LLC, San Francisco, California., Napoleone J; Omada Health Inc, San Francisco, California.
Publikováno v:
The science of diabetes self-management and care [Sci Diabetes Self Manag Care] 2024 Feb; Vol. 50 (1), pp. 19-31. Date of Electronic Publication: 2024 Jan 19.
Autor:
Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Dyer L; GeneDx, Gaithersburg, MD 20877, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France., Prontera P; Medical Genetics Unit, Hospital 'Santa Maria della Misericordia', Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France., Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Pope K; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Snell P; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Luana Mandarà GM; Medical Genetics, ASP Ragusa, Ragusa, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France., Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France., Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy., Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Dec 07; Vol. 110 (12), pp. 2015-2028. Date of Electronic Publication: 2023 Nov 17.
Autor:
Sobering, A.K., Bryant, L.M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J.M., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L.K., Adler, E., Lyonnet, S., Pingault, V., Sandrine, M., Ziegler, A., Donald, T., Nelson, B., Holt, B., Petryna, O., Firth, H., McWalter, K., Zyskind, J., Telegrafi, A., Juusola, J., Person, R., Bamshad, M.J., Earl, D., Tsai, A.C.H., Yearwood, K.R., Marco, E., Nowak, C., Douglas, J., Hakonarson, H., Bhoj, E.J., Univ Washington Ctr Mendelian Geno
Publikováno v:
Human Genetics and Genomics Advances, 3(3). ELSEVIER
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, Adler, É, Lyonnet, S, Pingault, V, Sandrine, M, Ziegler, A, Donald, T, Nelson, B, Holt, B, Petryna, O, Firth, H, McWalter, K, Zyskind, J, Telegrafi, A, Juusola, J, Person, R, Bamshad, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, Adler, É, Lyonnet, S, Pingault, V, Sandrine, M, Ziegler, A, Donald, T, Nelson, B, Holt, B, Petryna, O, Firth, H, McWalter, K, Zyskind, J, Telegrafi, A, Juusola, J, Person, R, Bamshad, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102
Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0c2f4bddb24a1f74df42714cfbbe1
https://hdl.handle.net/1887/3561451
https://hdl.handle.net/1887/3561451
Autor:
Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE., Fusaro V; Invitae, San Francisco, CA, US., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, US., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Humberson J; University of Virginia Health System, Charlottesville, VA, US., Napier MP; GeneDx, Gaithersburg, MD, US., Hoffman J; GeneDx, Gaithersburg, MD, US., Juusola J; GeneDx, Gaithersburg, MD, US., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US., Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US., Rothfelder K; Zentrum für Humangenetik, Tübingen, DE., Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Hilton S; Manchester University, Manchester, UK., Banka S; Manchester University, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE., Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.
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Autor:
Wu J; Omada Health Inc, San Francisco, CA, United States., Napoleone J; Omada Health Inc, San Francisco, CA, United States., Linke S; Omada Health Inc, San Francisco, CA, United States., Noble M; Omada Health Inc, San Francisco, CA, United States., Turken M; Google, Mountain View, CA, United States., Rakotz M; American Medical Association, Chicago, IL, United States., Kirley K; American Medical Association, Chicago, IL, United States., Folk Akers J; American Medical Association, Chicago, IL, United States., Juusola J; Anchor Outcomes, LLC, San Francisco, CA, United States., Jasik CB; Omada Health Inc, San Francisco, CA, United States.
Publikováno v:
JMIR cardio [JMIR Cardio] 2023 Aug 24; Vol. 7, pp. e43489. Date of Electronic Publication: 2023 Aug 24.