换一批
换一批Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
第一作者：
Dana E,Layo-Carris
第一单位：
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
作者：
Dana E,Layo-Carris [1]
;
Emily E,Lubin [2]
;
Annabel K,Sangree [2]
;
Kelly J,Clark [2]
;
Emily L,Durham [1]
;
Elizabeth M,Gonzalez [2]
;
Sarina,Smith [1]
;
Rajesh,Angireddy [1]
;
Xiao Min,Wang [1]
;
Erin,Weiss [1]
;
Annick,Toutain [3]
;
Roberto,Mendoza-Londono [4]
;
Lucie,Dupuis [4]
;
Nadirah,Damseh [4]
;
Danita,Velasco [5]
;
Irene,Valenzuela [6]
;
Marta,Codina-Solà [6]
;
Catherine,Ziats [7]
;
Jaclyn,Have [7]
;
Katie,Clarkson [8]
;
Dora,Steel [9]
;
Manju,Kurian [9]
;
Katy,Barwick [9]
;
Diana,Carrasco [10]
;
Aditi I,Dagli [11]
;
M J M,Nowaczyk [12]
;
Miroslava,Hančárová [13]
;
Šárka,Bendová [13]
;
Darina,Prchalova [13]
;
Zdeněk,Sedláček [13]
;
Alica,Baxová [14]
;
Catherine Bearce,Nowak [15]
;
Jessica,Douglas [16]
;
Wendy K,Chung [17]
;
Nicola,Longo [18]
;
Konrad,Platzer [19]
;
Chiara,Klöckner [19]
;
Luisa,Averdunk [20]
;
Dagmar,Wieczorek [20]
;
Ilona,Krey [19]
;
Christiane,Zweier [21]
;
Andre,Reis [22]
;
Tugce,Balci [23]
;
Marleen,Simon [24]
;
Hester Y,Kroes [24]
;
Antje,Wiesener [24]
;
Georgia,Vasileiou [24]
;
Nikolaos M,Marinakis [25]
;
Danai,Veltra [25]
;
Christalena,Sofocleous [25]
;
Konstantina,Kosma [25]
;
Joanne,Traeger Synodinos [25]
;
Konstantinos A,Voudris [26]
;
Marie-Laure,Vuillaume [27]
;
Paul,Gueguen [27]
;
Nicolas,Derive [28]
;
Estelle,Colin [29]
;
Clarisse,Battault [29]
;
Billie,Au [30]
;
Martin,Delatycki [31]
;
Mathew,Wallis [32]
;
Lyndon,Gallacher [31]
;
Fatma,Majdoub [33]
;
Noor,Smal [34]
;
Sarah,Weckhuysen [35]
;
An-Sofie,Schoonjans [36]
;
R Frank,Kooy [37]
;
Marije,Meuwissen [38]
;
Benjamin T,Cocanougher [39]
;
Kathryn,Taylor [40]
;
Carolyn E,Pizoli [40]
;
Marie T,McDonald [41]
;
Philip,James [42]
;
Elizabeth R,Roeder [43]
;
Rebecca,Littlejohn [43]
;
Nicholas A,Borja [44]
;
Willa,Thorson [44]
;
Kristine,King [45]
;
Radka,Stoeva [46]
;
Manon,Suerink [47]
;
Esther,Nibbeling [47]
;
Stephanie,Baskin [48]
;
Gwenaël,L E Guyader [49]
;
Julie,Kaplan [50]
;
Candace,Muss [50]
;
Deanna Alexis,Carere [51]
;
Elizabeth J K,Bhoj [52]
;
Laura M,Bryant [53]
作者单位：
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[1]
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[2]
Service de Génétique, CHU de Tours, Tours, France.;UMR1253, iBrain, Inserm, University of Tours, Tours, France.
[3]
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
[4]
Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.
[5]
Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.;Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.
[6]
Shodair Children's Hospital, Helena, MT, USA.
[7]
Greenwood Genetic Center, Greenwood, SC, USA.
[8]
UCL Great Ormond Street Institute of Child Health, London, UK.
[9]
Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
[10]
Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.
[11]
McMaster University Medical Centre, Hamilton, ON, Canada.
[12]
Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
[13]
Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
[14]
Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
[15]
Harvard Medical School, Boston, MA, USA.
[16]
Harvard Medical School, Boston, MA, USA.;Boston Children's Hospital, Boston, MA, USA.
[17]
University of Utah, Salt Lake City, UT, USA.
[18]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[19]
Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.
[20]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.;Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
[21]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.
[22]
University of Western Ontario, London, ON, Canada.
[23]
Department of Genetics, University Medical Center, Utrecht, Netherlands.
[24]
Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
[25]
Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
[26]
Service de Génétique, CHU de Tours, Tours, France.;UMR1253, iBrain, Inserm, University of Tours, Tours, France.;Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
[27]
Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
[28]
Service de Génétique Médicale, CHU d'Angers, Angers, France.
[29]
University of Calgary, Calgary, AB, Canada.
[30]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
[31]
Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.;School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
[32]
Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.;Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.;Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
[33]
Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.;Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
[34]
Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.;Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.;Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.;Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.;NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.
[35]
Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.;Department of Pediatrics, Duke University Hospital, Durham, NC, USA.
[36]
Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.
[37]
Department of Pediatrics, Duke University Hospital, Durham, NC, USA.;Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.
[38]
Department of Pediatrics, Duke University Hospital, Durham, NC, USA.
[39]
Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.
[40]
Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.
[41]
DMG Children's Rehabilitative Services, Phoenix, AZ, USA.
[42]
Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
[43]
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
[44]
Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.
[45]
Medical genetics department, Centre Hospitalier, Le Mans, France.
[46]
Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
[47]
Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[48]
Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.
[49]
Nemours Children's Health, Wilmington, DE, USA.
[50]
GeneDx, Gaithersburg, MD, USA.
[51]
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.;Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.
[52]
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
[53]
主题词
人类(Humans);表型(Phenotype);男(雄)性(Male);女(雌)性(Female);组蛋白类(Histones);儿童(Child);神经变性疾病(Neurodegenerative Diseases);儿童, 学龄前(Child, Preschool);青少年(Adolescent);成年人(Adult)
DOI
10.1038/s41431-024-01610-1
PMID
38678163
发布时间
2025-01-21
- 浏览0
European journal of human genetics
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