Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
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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Genetics in medicine open
Genetics in medicine open
2024年2卷
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