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Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

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第一作者: Paola,Nicoletti
第一单位: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
作者: Paola,Nicoletti [1] ; Samreen,Zafer [1] ; Lital,Matok [2] ; Inbar,Irron [3] ; Meidva,Patrick [3] ; Rotem,Haklai [3] ; John Erol,Evangelista [4] ; Giacomo B,Marino [4] ; Avi,Ma'ayan [4] ; Anshuman,Sewda [5] ; Greg,Holmes [1] ; Sierra R,Britton [6] ; Won Jun,Lee [1] ; Meng,Wu [1] ; Ying,Ru [1] ; Eric,Arnaud [7] ; Lorenzo,Botto [8] ; Lawrence C,Brody [9] ; Jo C,Byren [10] ; Michele,Caggana [11] ; Suzan L,Carmichael [12] ; Deirdre,Cilliers [13] ; Kristin,Conway [14] ; Karen,Crawford [15] ; Araceli,Cuellar [16] ; Federico,Di Rocco [17] ; Michael,Engel [18] ; Jeffrey,Fearon [19] ; Marcia L,Feldkamp [8] ; Richard,Finnell [20] ; Sarah,Fisher [21] ; Christian,Freudlsperger [18] ; Gemma,Garcia-Fructuoso [22] ; Rhinda,Hagge [14] ; Yann,Heuzé [23] ; Raymond J,Harshbarger [24] ; Charlotte,Hobbs [25] ; Meredith,Howley [21] ; Mary M,Jenkins [26] ; David,Johnson [10] ; Cristina M,Justice [27] ; Alex,Kane [28] ; Denise,Kay [11] ; Arun Kumar,Gosain [29] ; Peter,Langlois [30] ; Laurence,Legal-Mallet [31] ; Angela E,Lin [32] ; James L,Mills [33] ; Jenny E V,Morton [34] ; Peter,Noons [35] ; Andrew,Olshan [36] ; John,Persing [37] ; Julie M,Phipps [15] ; Richard,Redett [38] ; Jennita,Reefhuis [26] ; Elias,Rizk [39] ; Thomas D,Samson [40] ; Gary M,Shaw [41] ; Robert,Sicko [11] ; Nataliya,Smith [42] ; David,Staffenberg [43] ; Joan,Stoler [44] ; Elizabeth,Sweeney [45] ; Peter J,Taub [46] ; Andrew T,Timberlake [43] ; Jolanta,Topczewska [29] ; Steven A,Wall [10] ; Alexander F,Wilson [27] ; Louise C,Wilson [47] ; Simeon A,Boyadjiev [16] ; Andrew O M,Wilkie [15] ; Joan T,Richtsmeier [48] ; Ethylin Wang,Jabs [1] ; Paul A,Romitti [14] ; David,Karasik [2] ; Ramon Y,Birnbaum [3] ; Inga,Peter [1]
作者单位: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. [1] Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel. [2] Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel. [3] Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. [4] Department of Pediatrics, Columbia University Irving Medical Center, New York, NY. [5] Department of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY. [6] Department of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. [7] Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah. [8] Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD. [9] Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom. [10] Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY. [11] Department of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA. [12] Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom. [13] Department of Epidemiology, University of Iowa, Iowa City, IA. [14] MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom. [15] Department of Pediatrics, University of California, Davis, CA. [16] Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France. [17] Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany. [18] The Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX. [19] Center for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas. [20] Birth Defects Registry, New York State Department of Health, Albany, NY. [21] Hospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain. [22] Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France. [23] Department of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX. [24] Rady Children's Institute for Genomic Medicine, San Diego, CA. [25] Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA. [26] Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD. [27] Department of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX. [28] Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL. [29] Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX. [30] Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France. [31] Medical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA. [32] Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD. [33] Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom. [34] Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom. [35] Department of Epidemiology, University of North Carolina, Chapel Hill, NC. [36] Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT. [37] Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD. [38] Department of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA. [39] Division of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA. [40] Department of Pediatrics, Stanford University, Stanford, CA. [41] Neuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA. [42] Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY. [43] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. [44] Department of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom. [45] Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY. [46] Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. [47] Department of Anthropology, Pennsylvania State University, University Park, PA. [48]
DOI 10.1016/j.gimo.2024.101851
PMID 39345948
发布时间 2026-03-14
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