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作者：
Kelly,Smallwood [1]
;
Kristin E N,Watt [2]
;
Satoru,Ide [3]
;
Kristina,Baltrunaite [1]
;
Chad,Brunswick [1]
;
Katherine,Inskeep [4]
;
Corrine,Capannari [1]
;
Margaret P,Adam [5]
;
Amber,Begtrup [6]
;
Debora R,Bertola [7]
;
Laurie,Demmer [8]
;
Erin,Demo [9]
;
Orrin,Devinsky [10]
;
Emily R,Gallagher [5]
;
Maria J,Guillen Sacoto [6]
;
Robert,Jech [11]
;
Boris,Keren [12]
;
Jennifer,Kussmann [13]
;
Roger,Ladda [14]
;
Lisa A,Lansdon [15]
;
Sebastian,Lunke [16]
;
Anne,Mardy [17]
;
Kirsty,McWalters [6]
;
Richard,Person [6]
;
Laura,Raiti [18]
;
Noriko,Saitoh [19]
;
Carol J,Saunders [15]
;
Rhonda,Schnur [6]
;
Matej,Skorvanek [20]
;
Susan L,Sell [14]
;
Anne,Slavotinek [21]
;
Bonnie R,Sullivan [13]
;
Zornitza,Stark [16]
;
Joseph D,Symonds [22]
;
Tara,Wenger [5]
;
Sacha,Weber [23]
;
Sandra,Whalen [12]
;
Susan M,White [24]
;
Juliane,Winkelmann [25]
;
Michael,Zech [26]
;
Shimriet,Zeidler [27]
;
Kazuhiro,Maeshima [3]
;
Rolf W,Stottmann [28]
;
Paul A,Trainor [29]
;
K Nicole,Weaver [30]
作者单位：
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[1]
Stowers Institute for Medical Research, Kansas City, MO, USA.
[2]
Genome Dynamics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan; Department of Genetics, School of Life Science, Sokendai (Graduate University for Advanced Studies), Mishima, Shizuoka, Japan.
[3]
Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[4]
Department of Pediatrics, University of Washington, Seattle, WA, USA.
[5]
GeneDx, LLC, Gaithersburg, MD, USA.
[6]
University of São Paulo, São Paulo, Brazil.
[7]
Atrium Health's Levine Children's Hospital, Charlotte, NC, USA.
[8]
Sibley Heart Center, Atlanta, GA, USA.
[9]
Department of Neurology, Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA.
[10]
Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
[11]
Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
[12]
Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA.
[13]
Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA, USA.
[14]
Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA; Genomic Medicine Center, Children's Mercy Research Institute, 2401 Gillham Road, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, Kansas City, MO, USA.
[15]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.
[16]
Department of Women's Health, University of Texas Austin Dell Medical Center, Austin, TX, USA.
[17]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia.
[18]
The Cancer Institute of JFCR, Tokyo, Japan.
[19]
Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
[20]
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
[21]
Paediatric Neuroscience Research Group, Royal Hospital for Children, Glasgow G667AB, UK.
[22]
CCA-AHU de génétique clinique et de neurogénétique, Service de Génétique et de Neurologie, CHU de Caen, Caen, France.
[23]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.
[24]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
[25]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
[26]
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
[27]
Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, OH, USA.
[28]
Stowers Institute for Medical Research, Kansas City, MO, USA; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.
[29]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: kathryn.weaver@cchmc.org.
[30]
主题词
人类(Humans);小鼠(Mice);动物(Animals);下颌面骨发育不全(Mandibulofacial Dysostosis);细胞凋亡(Apoptosis);诱变(Mutagenesis);核糖体(Ribosomes);表型(Phenotype);神经嵴(Neural Crest);颅面骨畸形(Craniofacial Abnormalities)
DOI
10.1016/j.ajhg.2023.03.014
PMID
37075751
发布时间
2023-11-05
- 浏览2
American journal of human genetics
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