Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jønch AE"'
Autor:
Loft Nagel J; Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark julienagel@live.dk., Jønch AE; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Nguyen NTTN; Department of Neuroradiology, Odense University Hospital, Odense, Denmark., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2022 Apr 12; Vol. 15 (4). Date of Electronic Publication: 2022 Apr 12.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Autor:
Palencia-Campos A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain., Aoto PC; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Machal EMF; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Rivera-Barahona A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain., Soto-Bielicka P; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain., Bertinetti D; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Baker B; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Vu L; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Piceci-Sparascio F; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Torrente I; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Boudin E; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Peeters S; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Van Hul W; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Huber C; Clinical Genetics and Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, 75015, France; Université De Paris, INSERM UMR1163, Institut Imagine, Paris, 75015, France., Bonneau D; Biochemistry and Genetics Department, Angers Hospital, Angers Cedex 9, 49933, France; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers Cedex 9, 49933, France., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia., Coleman M; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Victoria, Australia; Department of Medical Biology, University of Melbourne, Melbourne, 3010, Victoria, Australia., Bennett MF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Victoria, Australia; Department of Medical Biology, University of Melbourne, Melbourne, 3010, Victoria, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, and Florey Institute of Neuroscience and Mental Health, Parkville, 3052, Victoria, Australia., Kibæk M; Children's Hospital of H.C. Andersen, Odense University Hospital, 5000 Odense, Denmark., Kristiansen BS; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark., Issa MY; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Mehrez MI; Department of Oro-dental Genetics, Division of Human Genetics and Genome Research. Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Ismail S; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Tenorio J; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability., Li G; Division for Molecular Nutrition, Institute for Basic Medical Sciences, University of Oslo, Oslo, 0316, Norway., Skålhegg BS; Division for Molecular Nutrition, Institute for Basic Medical Sciences, University of Oslo, Oslo, 0316, Norway., Otaify GA; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Temtamy S; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Aglan M; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Jønch AE; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark., De Luca A; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Mortier G; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium; Antwerp University Hospital, Edegem, 2650, Belgium., Cormier-Daire V; Clinical Genetics and Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, 75015, France; Université De Paris, INSERM UMR1163, Institut Imagine, Paris, 75015, France., Ziegler A; Biochemistry and Genetics Department, Angers Hospital, Angers Cedex 9, 49933, France; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers Cedex 9, 49933, France., Wallis M; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, 7001, Australia; Clinical Genetics Service, Austin Health, Heidelberg, 3084, Victoria, Australia., Lapunzina P; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability., Herberg FW; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Taylor SS; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA; Department of Chemistry and Biochemistry, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address: vlruiz@iib.uam.es.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 977-988. Date of Electronic Publication: 2020 Oct 14.
Autor:
Jønch AE; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Douard E; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.; Center Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Québec, Canada., Moreau C; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.; Center Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Québec, Canada., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Passeggeri M; Service of Medical Genetics, CHUV Lausanne, Lausanne, Switzerland., Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Puechberty J; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, Université Montpelier, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Campbell C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Sanlaville D; Service de Génétique, Hospices Civils de Lyon, CHU de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, GENDEV Team, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon, Bron, France., Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Richetin S; Service of Medical Genetics, CHUV Lausanne, Lausanne, Switzerland., Pain A; Service of Medical Genetics, CHUV Lausanne, Lausanne, Switzerland.; Centre Cantonal Autisme, CHUV Lausanne, Lausanne, Switzerland., Geneviève D; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.; INSERM, U1183, IRMB, Hôpital Saint Eloi, CHU de Montpellier, Montpellier, France., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; The Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK., Le Caignec C; Service de Génétique Médical, CHU Nantes, Nantes, France., Lespinasse J; Service de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France., Skytte AB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical epidemiology, Aarhus University, Aarhus, Denmark., Isidor B; Service de Génétique Médical, CHU Nantes, Nantes, France., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Caberg JH; Department of Human Genetics, CHU de Liège, Liège, Belgium., Delrue MA; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.; Center Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Québec, Canada., Møller RS; Danish Epilepsy Center, Filadelfia, Dianalund, Denmark., Bojesen A; Department of Clinical Genetics, Sygehus Lillebalt Vejle Sygehus, Vejle, Denmark., Hjalgrim H; Danish Epilepsy Center, Filadelfia, Dianalund, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lemyre E; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.; Center Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Québec, Canada., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada sebastien.jacquemont@umontreal.ca.; Center Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Québec, Canada.
Publikováno v:
Journal of medical genetics [J Med Genet] 2019 Oct; Vol. 56 (10), pp. 701-710. Date of Electronic Publication: 2019 Aug 26.
Autor:
Jacquemont S; Sainte-Justine University Hospital Research Centre, Montreal, QC H3T 1C5.; University of Montreal, Montreal, QC H3T 1J4, Canada., Pacini L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Jønch AE; Department of Clinical Genetics, Odense University Hospital.; Human Genetics, Department of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark., Cencelli G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Rozenberg I; Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, Basel, Switzerland., He Y; Biomarker Development, Novartis Institutes for Biomedical Research, Cambridge, MA, USA., D'Andrea L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Pedini G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Eldeeb M; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, Sacramento, CA, USA., Willemsen R; Department of Clinical Genetics, Erasmus Medical Center, DRRotterdam, Netherlands., Gasparini F; Neuroscience Discovery, Novartis Institutes for BioMedical Research, Basel, Switzerland., Tassone F; Department of Biochemistry and Molecular Medicine and Medical Investigation of Neurodevelopmental Disorders (MIND) Institute., Hagerman R; Department of Pediatric and Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, School of Medicine, Sacramento, CA, USA., Gomez-Mancilla B; Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, Basel, Switzerland.; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada., Bagni C; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.; Department of Fundamental Neuroscience, University of Lausanne, Lausanne, Switzerland.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2018 Nov 01; Vol. 27 (21), pp. 3825.
Autor:
Martin-Brevet S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Laboratoire de Recherche en Neuroimagerie, Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Rodríguez-Herreros B; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada., Nielsen JA; Department of Psychology, Harvard University, Cambridge, Massachusetts; Center for Brain Science, Harvard University, Cambridge, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts., Moreau C; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada., Modenato C; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Laboratoire de Recherche en Neuroimagerie, Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Maillard AM; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Centre Cantonal Autisme, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Pain A; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Centre Cantonal Autisme, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Richetin S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Jønch AE; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Qureshi AY; Center for Brain Science, Harvard University, Cambridge, Massachusetts; Department of Neurology, University of Kansas Medical Center, Kansas City, KS., Zürcher NR; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Conus P; Service of General Psychiatry, Department of Psychiatry, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Chung WK; Simons Foundation, New York, New York; Departments of Pediatrics and Medicine, Columbia University, New York, New York., Sherr EH; Department of Neurology, Department of Pediatrics, and Weill Institute for Neurosciences, University of California, San Francisco, California., Spiro JE; Simons Foundation, New York, New York., Kherif F; Laboratoire de Recherche en Neuroimagerie, Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Beckmann JS; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland., Hadjikhani N; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Buckner RL; Department of Psychology, Harvard University, Cambridge, Massachusetts; Center for Brain Science, Harvard University, Cambridge, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Draganski B; Laboratoire de Recherche en Neuroimagerie, Département des neurosciences cliniques, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; Department of Neurology, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany., Jacquemont S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada. Electronic address: sebastien.jacquemont@umontreal.ca.
Publikováno v:
Biological psychiatry [Biol Psychiatry] 2018 Aug 15; Vol. 84 (4), pp. 253-264. Date of Electronic Publication: 2018 Mar 27.
Autor:
Jacquemont S; Sainte-Justine University Hospital Research Centre, Montreal, QC H3T 1C5.; University of Montreal, Montreal, QC H3T 1J4, Canada., Pacini L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy., Jønch AE; Department of Clinical Genetics, Odense University Hospital.; Human Genetics, Department of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark., Cencelli G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy., Rozenberg I; Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, 4056 Basel, Switzerland., He Y; Biomarker Development, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., D'Andrea L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy., Pedini G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy., Eldeeb M; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, Sacramento, CA 95817, USA., Willemsen R; Department of Clinical Genetics, Erasmus Medical Center, 1738, 3000DR Rotterdam, The Netherlands., Gasparini F; Neuroscience Discovery, Novartis Institutes for BioMedical Research, 4002 Basel, Switzerland., Tassone F; Department of Biochemistry and Molecular Medicine and Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Sacramento, CA 95817, USA., Hagerman R; Department of Pediatric and Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA., Gomez-Mancilla B; Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, 4056 Basel, Switzerland.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 0G4, Canada., Bagni C; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy.; Department of Fundamental Neuroscience, University of Lausanne, 1005 Lausanne, Switzerland.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2018 Jun 15; Vol. 27 (12), pp. 2039-2051.
Autor:
Berry-Kravis EM; Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, Illinois 60612, USA., Lindemann L; Roche Pharmaceuticals Research and Early Development, Discovery Neuroscience, Neuroscience, Ophthalmology, and Rare Diseases, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070 Basel, Switzerland., Jønch AE; Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, Odense C, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, J.B. Winsløws Vej 19, 5000 Odense C, Denmark., Apostol G; Formerly at Neuroscience Development, Novartis Pharma AG, Fabrikstrasse 2, 4056 Basel, Switzerland., Bear MF; Picower Institute for Learning and Memory, Massachusetts Institute of Technology, 43 Vassar St, Cambridge, Massachusetts 02139, USA., Carpenter RL; Picower Institute for Learning and Memory, Massachusetts Institute of Technology, 43 Vassar St, Cambridge, Massachusetts 02139, USA., Crawley JN; MIND Institute, University of California Davis School of Medicine, 2825 50th Street, Sacramento, California 95817, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, 4625 2nd Avenue, Sacramento, California 95817, USA., Curie A; National Reference Center for Rare Diseases with Intellectual Disability, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université de Lyon, Institut des Sciences Cognitives, CNRS UMR 5304, Boulevard Pinel 67, 69675 Bron Cedex, France., Des Portes V; National Reference Center for Rare Diseases with Intellectual Disability, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université de Lyon, Institut des Sciences Cognitives, CNRS UMR 5304, Boulevard Pinel 67, 69675 Bron Cedex, France., Hossain F; Neuroscience Development, Novartis Pharmaceutical Corporation, 1 Health Plaza, East Hanover, New Jersey 07936, USA., Gasparini F; Novartis Institutes for Biomedical Research, Neuroscience Research, Postfach, 4002 Basel, Switzerland., Gomez-Mancilla B; Novartis Institutes for Biomedical Research, Neuroscience Research, Postfach, 4002 Basel, Switzerland.; Department of Neurology & Neurosurgery, McGill University, 845 Sherbrook Street West, Montreal, Quebec H3A 0G4, Canada., Hessl D; MIND Institute, University of California Davis School of Medicine, 2825 50th Street, Sacramento, California 95817, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, 4625 2nd Avenue, Sacramento, California 95817, USA., Loth E; Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK., Scharf SH; Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070 Basel, Switzerland., Wang PP; Simons Foundation, 160 Fifth Avenue, 7th Floor, New York, New York 10010, USA., Von Raison F; Neuroscience Development, Novartis Pharma AG, Fabrikstrasse 2, 4056 Basel, Switzerland., Hagerman R; MIND Institute, University of California Davis School of Medicine, 2825 50th Street, Sacramento, California 95817, USA.; Department of Pediatrics, University of California Davis Medical Center, 2516 Stockton Boulevard, Sacramento, California 95817, USA., Spooren W; Roche Pharmaceuticals Research and Early Development, Discovery Neuroscience, Neuroscience, Ophthalmology, and Rare Diseases, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070 Basel, Switzerland., Jacquemont S; Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, 1011 Lausanne and University of Lausanne, Switzerland.; CHU Sainte-Justine Research Centre, University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.
Publikováno v:
Nature reviews. Drug discovery [Nat Rev Drug Discov] 2018 Apr; Vol. 17 (4), pp. 280-299. Date of Electronic Publication: 2017 Dec 08.
Autor:
Loviglio MN; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Arbogast T; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA., Jønch AE; Service of Medical Genetics, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland., Collins SC; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Translational Medicine and Neurogenetics; Centre National de la Recherche Scientifique, UMR7104; Institut National de la Santé et de la Recherche Médicale, U964; Université de Strasbourg, 67400 Illkirch-Graffenstaden, France., Popadin K; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Immanuel Kant Baltic Federal University, 14 A. Nevskogo ul., Kaliningrad 236041, Russia., Bonnet CS; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA., Giannuzzi G; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Maillard AM; Service of Medical Genetics, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland., Jacquemont S; Service of Medical Genetics, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland., Yalcin B; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Translational Medicine and Neurogenetics; Centre National de la Recherche Scientifique, UMR7104; Institut National de la Santé et de la Recherche Médicale, U964; Université de Strasbourg, 67400 Illkirch-Graffenstaden, France., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA., Golzio C; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Electronic address: christelle.golzio@igbmc.fr., Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address: alexandre.reymond@unil.ch.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Oct 05; Vol. 101 (4), pp. 564-577. Date of Electronic Publication: 2017 Sep 28.
Autor:
D'Angelo D; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York., Lebon S; Pediatric Neurology Unit, Department of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland., Chen Q; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York., Martin-Brevet S; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Snyder LG; Clinical Research Associates, New York, New York., Hippolyte L; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Hanson E; Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Maillard AM; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Faucett WA; Genomic Medicine Institute, Geisinger Clinic, Danville, Pennsylvania., Macé A; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland7Swiss Institute of Bioinformatics, University of Lausanne, Lausanne, Switzerland., Pain A; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Bernier R; Department of Psychiatry and Behavioral Science, University of Washington, Seattle., Chawner SJ; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales., David A; Service de Génétique Médicale, Faculté de Médecine, Centre Hospitalier Universitaire (CHU) Nantes, Institut National de la Santé et de la Recherche Medicale (INSERM) Unités Mixtes de Recherche 957, Nantes, France., Andrieux J; Institut de Génétique Médicale, Hospital Jeanne de Flandre, Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France., Aylward E; Center for Integrative Brain Research, Children's Research Institute, Seattle, Washington., Baujat G; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France 14INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France15Institut Imagine, Université Paris Descartes-Sorbonne Paris Cité, Paris., Caldeira I; 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Publikováno v:
JAMA psychiatry [JAMA Psychiatry] 2016 Jan; Vol. 73 (1), pp. 20-30.
Autor:
Hall DA; Department of Neurological Sciences, Rush University, Chicago, IL USA., Birch RC; Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia., Anheim M; Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, Cedex 67098 France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, 67404 France ; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Jønch AE; Department of clinical Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Pintado E; Department of Medical Biochemistry and Molecular Biology, University of Seville, Sevilla, Spain., O'Keefe JA; Department of Anatomy & Cell Biology, Rush University, Chicago, IL USA., Trollor JN; Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia ; Centre for Healthy Brain Ageing, University of New South Wales, Sydney, Australia., Stebbins GT; Department of Neurological Sciences, Rush University, Chicago, IL USA., Hagerman RJ; Department of Pediatrics & M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA USA., Fahn S; Department of Neurology, Columbia University, New York, NY USA., Berry-Kravis E; Department of Neurological Sciences, Rush University, Chicago, IL USA ; Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL USA., Leehey MA; Department of Neurology, University of Colorado at Denver, Denver, CO USA.
Publikováno v:
Journal of neurodevelopmental disorders [J Neurodev Disord] 2015; Vol. 7 (1), pp. 13. Date of Electronic Publication: 2015 Apr 08.