换一批Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
第一作者：
Elisabeth,Bosch
第一单位：
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
作者：
Elisabeth,Bosch [1]
;
Bernt,Popp [2]
;
Esther,Güse [1]
;
Cindy,Skinner [3]
;
Pleuntje J,van der Sluijs [4]
;
Isabelle,Maystadt [5]
;
Anna Maria,Pinto [6]
;
Alessandra,Renieri [7]
;
Lucia Pia,Bruno [8]
;
Stefania,Granata [7]
;
Carlo,Marcelis [9]
;
Özlem,Baysal [9]
;
Dewi,Hartwich [10]
;
Laura,Holthöfer [10]
;
Bertrand,Isidor [11]
;
Benjamin,Cogne [11]
;
Dagmar,Wieczorek [12]
;
Valeria,Capra [13]
;
Marcello,Scala [14]
;
Patrizia,De Marco [15]
;
Marzia,Ognibene [15]
;
Rami Abou,Jamra [16]
;
Konrad,Platzer [16]
;
Lauren B,Carter [17]
;
Outi,Kuismin [18]
;
Arie,van Haeringen [4]
;
Reza,Maroofian [19]
;
Irene,Valenzuela [20]
;
Ivon,Cuscó [20]
;
Julian A,Martinez-Agosto [21]
;
Ahna M,Rabani [22]
;
Heather C,Mefford [23]
;
Elaine M,Pereira [24]
;
Charlotte,Close [24]
;
Kwame,Anyane-Yeboa [24]
;
Mallory,Wagner [25]
;
Mark C,Hannibal [25]
;
Pia,Zacher [26]
;
Isabelle,Thiffault [27]
;
Gea,Beunders [28]
;
Muhammad,Umair [29]
;
Priya T,Bhola [30]
;
Erin,McGinnis [31]
;
John,Millichap [32]
;
Jiddeke M,van de Kamp [33]
;
Eloise J,Prijoles [3]
;
Amy,Dobson [3]
;
Amelle,Shillington [34]
;
Brett H,Graham [35]
;
Evan-Jacob,Garcia [35]
;
Maureen Kelly,Galindo [36]
;
Fabienne G,Ropers [37]
;
Esther A R,Nibbeling [4]
;
Gail,Hubbard [38]
;
Catherine,Karimov [38]
;
Guido,Goj [39]
;
Renee,Bend [40]
;
Julie,Rath [40]
;
Michelle M,Morrow [41]
;
Francisca,Millan [41]
;
Vincenzo,Salpietro [42]
;
Annalaura,Torella [43]
;
Vincenzo,Nigro [43]
;
Mitja,Kurki [44]
;
Roger E,Stevenson [3]
;
Gijs W E,Santen [4]
;
Markus,Zweier [45]
;
Philippe M,Campeau [46]
;
Mariasavina,Severino [47]
;
André,Reis [48]
;
Andrea,Accogli [49]
;
Georgia,Vasileiou [50]
作者单位：
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
[1]
Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[2]
Greenwood Genetic Center, Greenwood, SC.
[3]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[4]
Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
[5]
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
[6]
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy.
[7]
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
[8]
Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands.
[9]
Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany.
[10]
Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
[11]
Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
[12]
Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[13]
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[14]
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[15]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[16]
Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC.
[17]
Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
[18]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
[19]
Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.
[20]
Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA.
[21]
Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA.
[22]
Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN.
[23]
Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.
[24]
Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI.
[25]
Epilepsy Center Kleinwachau, Radeberg, Germany.
[26]
Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO.
[27]
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
[28]
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.
[29]
Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.
[30]
Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
[31]
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
[32]
Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands.
[33]
Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
[34]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
[35]
Department of Pediatrics, University of Arizona, Tucson, AZ.
[36]
Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands.
[37]
Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.
[38]
Vestische Kinder- und Jugendklinik, Datteln, Germany.
[39]
PreventionGenetics, Part of Exact Sciences, Marshfield, WI.
[40]
GeneDx, Gaithersburg, MD.
[41]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
[42]
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.
[43]
Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA.
[44]
Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
[45]
Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
[46]
Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[47]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.
[48]
Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada.
[49]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.
[50]
医学主题词
人类(Humans);畸形, 多发性(Abnormalities, Multiple);面部(Face);小颌畸形(Micrognathism);面容(Facies);表型(Phenotype);DNA结合蛋白质类(DNA-Binding Proteins);转录因子(Transcription Factors)
DOI
10.1016/j.gim.2023.100950
PMID
37551667
发布时间
2023-11-13
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Genetics in medicine
Genetics in medicine
100950页
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