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Nancy B. Spinner
Researcher at Children's Hospital of Philadelphia
Publications - 225
Citations - 19860
Nancy B. Spinner is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Alagille syndrome & JAG1. The author has an hindex of 61, co-authored 220 publications receiving 18117 citations. Previous affiliations of Nancy B. Spinner include Albert Einstein Medical Center & University of Pennsylvania.
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Journal ArticleDOI
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Journal ArticleDOI
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Linheng Li,Ian D. Krantz,Yu Deng,Yu Deng,Anna Genin,Amy B. Banta,Colin Collins,Ming Qi,Barbara J. Trask,Wen Lin Kuo,Joanne Cochran,Teresa Costa,Mary Ella M Pierpont,Elizabeth B. Rand,David A. Piccoli,Leroy Hood,Nancy B. Spinner +16 more
TL;DR: Four distinct coding mutations in JAG1 are demonstrated, providing evidence that it is the causal gene for Alagille syndrome, and supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagile syndrome phenotype.
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KILLER/DR5 is a DNA damage–inducible p53–regulated death receptor gene
G. S. Wu,Timothy F. Burns,E. R. McDonald,W. Jiang,R. Meng,Ian D. Krantz,Gary D. Kao,D. D. Gan,Jun Ying Zhou,Ruth J. Muschel,Stanley R. Hamilton,Nancy B. Spinner,Sanford D. Markowitz,Gary D. Wu,Wafik S. El-Deiry +14 more
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Mutations in the human Jagged1 gene are responsible for Alagille syndrome
Takaya Oda,Abdel G. Elkahloun,Brian L. Pike,Kazuki Okajima,Ian D. Krantz,Anna Genin,David A. Piccoli,Paul S. Meltzer,Nancy B. Spinner,Francis S. Collins,Settara C. Chandrasekharappa +10 more
TL;DR: It is concluded that AGS is caused by haploinsufficiency of JAG1, the human homologue of rat Jagged1, which encodes a ligand for the Notch receptor, an attractive candidate gene for a developmental disorder in humans.
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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
Jeffrey R. Botkin,John W. Belmont,Jonathan S. Berg,Benjamin E. Berkman,Yvonne Bombard,Ingrid A. Holm,Howard P. Levy,Kelly E. Ormond,Howard M. Saal,Nancy B. Spinner,Benjamin S. Wilfond,Joseph D. McInerney +11 more
TL;DR: This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children and a broad range of test technologies and their applications in clinical medicine and research.