换一批
换一批
作者：
Sébastien,Küry [1]
;
Geeske M,van Woerden [2]
;
Thomas,Besnard [3]
;
Martina,Proietti Onori [2]
;
Xénia,Latypova [3]
;
Meghan C,Towne [4]
;
Megan T,Cho [5]
;
Trine E,Prescott [6]
;
Melissa A,Ploeg [2]
;
Stephan,Sanders [7]
;
Holly A F,Stessman [8]
;
Aurora,Pujol [9]
;
Ben,Distel [10]
;
Laurie A,Robak [11]
;
Jonathan A,Bernstein [12]
;
Anne-Sophie,Denommé-Pichon [13]
;
Gaëtan,Lesca [14]
;
Elizabeth A,Sellars [15]
;
Jonathan,Berg [16]
;
Wilfrid,Carré [17]
;
Øyvind Løvold,Busk [6]
;
Bregje W M,van Bon [18]
;
Jeff L,Waugh [19]
;
Matthew,Deardorff [20]
;
George E,Hoganson [21]
;
Katherine B,Bosanko [15]
;
Diana S,Johnson [22]
;
Tabib,Dabir [23]
;
Øystein Lunde,Holla [6]
;
Ajoy,Sarkar [24]
;
Kristian,Tveten [6]
;
Julitta,de Bellescize [25]
;
Geir J,Braathen [6]
;
Paulien A,Terhal [26]
;
Dorothy K,Grange [27]
;
Arie,van Haeringen [28]
;
Christina,Lam [29]
;
Ghayda,Mirzaa [30]
;
Jennifer,Burton [21]
;
Elizabeth J,Bhoj [31]
;
Jessica,Douglas [32]
;
Avni B,Santani [33]
;
Addie I,Nesbitt [34]
;
Katherine L,Helbig [35]
;
Marisa V,Andrews [27]
;
Amber,Begtrup [5]
;
Sha,Tang [36]
;
Koen L I,van Gassen [26]
;
Jane,Juusola [5]
;
Kimberly,Foss [37]
;
Gregory M,Enns [12]
;
Ute,Moog [38]
;
Katrin,Hinderhofer [38]
;
Nagarajan,Paramasivam [39]
;
Sharyn,Lincoln [32]
;
Brandon H,Kusako [32]
;
Pierre,Lindenbaum [40]
;
Eric,Charpentier [40]
;
Catherine B,Nowak [32]
;
Elouan,Cherot [17]
;
Thomas,Simonet [25]
;
Claudia A L,Ruivenkamp [28]
;
Sihoun,Hahn [29]
;
Catherine A,Brownstein [4]
;
Fan,Xia [41]
;
Sébastien,Schmitt [3]
;
Wallid,Deb [3]
;
Dominique,Bonneau [13]
;
Mathilde,Nizon [3]
;
Delphine,Quinquis [3]
;
Jamel,Chelly [42]
;
Gabrielle,Rudolf [43]
;
Damien,Sanlaville [14]
;
Philippe,Parent [44]
;
Brigitte,Gilbert-Dussardier [45]
;
Annick,Toutain [46]
;
Vernon R,Sutton [47]
;
Jenny,Thies [48]
;
Lisenka E L M,Peart-Vissers [18]
;
Pierre,Boisseau [3]
;
Marie,Vincent [3]
;
Andreas M,Grabrucker [49]
;
Christèle,Dubourg [17]
;
Undiagnosed Diseases Network [32]
;
Wen-Hann,Tan [26]
;
Nienke E,Verbeek [38]
;
Martin,Granzow [28]
;
Gijs W E,Santen [50]
;
Jay,Shendure [3]
;
Bertrand,Isidor [51]
;
Laurent,Pasquier [40]
;
Richard,Redon [41]
;
Yaping,Yang [7]
;
Matthew W,State [18]
;
Tjitske,Kleefstra [3]
;
Benjamin,Cogné [52]
;
GEM HUGO [53]
;
Deciphering Developmental Disorders Study [54]
;
Slavé,Petrovski [5]
;
Kyle,Retterer [50]
;
Evan E,Eichler [11]
;
Jill A,Rosenfeld [55]
;
Pankaj B,Agrawal [56]
;
Stéphane,Bézieau [51]
;
Sylvie,Odent [57]
;
Ype,Elgersma [3]
;
Sandra,Mercier
作者单位：
CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: sebastien.kury@chu-nantes.fr.
[1]
Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
[2]
CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
[3]
Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
[4]
GeneDx, Gaithersburg, MD 20877, USA.
[5]
Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
[6]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
[7]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
[8]
Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
[9]
Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.
[10]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[11]
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
[12]
CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
[13]
Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
[14]
Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
[15]
Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
[16]
Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
[17]
Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
[18]
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
[19]
Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[20]
Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
[21]
Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
[22]
Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
[23]
Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
[24]
Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
[25]
Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
[26]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
[27]
Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
[28]
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
[29]
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
[30]
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[31]
Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
[32]
Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.
[33]
Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[34]
Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[35]
Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.
[36]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
[37]
Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
[38]
Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany and Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
[39]
INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
[40]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
[41]
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, 67091 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France.
[42]
Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France; Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France.
[43]
CHRU Brest, Génétique médicale, 29609 Brest, France.
[44]
CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808 Université Poitiers, France.
[45]
CHU Tours, Service de Génétique, 2 Boulevard Tonnellé, 37044 Tours, France.
[46]
Baylor Genetics, Houston, TX 77030, USA.
[47]
Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA 98105, USA.
[48]
Department of Biological Sciences, University of Limerick, Limerick V94 T9PX, Ireland; Bernal Institute, University of Limerick, Limerick V94 T9PX, Ireland.
[49]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
[50]
CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.
[51]
Réseau de génétique et génomique médicale - Hôpitaux Universitaires du Grand Ouest, CHU Rennes, Service de Génétique Clinique, 35203 Rennes, France.
[52]
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
[53]
Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.
[54]
Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
[55]
CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; CRCINA, Inserm, Université d'Angers, Université de Nantes, 44000 Nantes, France.
[56]
Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl.
[57]
主题词
动物(Animals);脑(Brain);钙-钙调素依赖性蛋白激酶2型(Calcium-Calmodulin-Dependent Protein Kinase Type 2);细胞系(Cell Line);女(雌)性(Female);谷氨酸(Glutamic Acid);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);突变(Mutation);神经元(Neurons);磷酰化(Phosphorylation);信号传导(Signal Transduction)
DOI
10.1016/j.ajhg.2017.10.003
PMID
29100089
发布时间
2020-08-24
- 浏览14
American journal of human genetics
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