T
Thomas S. DeNapoli
Researcher at Boston Children's Hospital
Publications - 5
Citations - 158
Thomas S. DeNapoli is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Copy-number variation & Structural variation. The author has an hindex of 4, co-authored 5 publications receiving 132 citations.
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Journal ArticleDOI
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski,Tomasz Gambin,Avinash V. Dharmadhikari,Kadir C. Akdemir,Shalini N. Jhangiani,Jennifer Schuette,Nihal Godiwala,Svetlana A. Yatsenko,Jessica Sebastian,Suneeta Madan-Khetarpal,Urvashi Surti,Rosanna G. Abellar,David A. Bateman,Ashley Wilson,Melinda H. Markham,Jill Slamon,Fernando Santos-Simarro,María Palomares,Julián Nevado,Pablo Lapunzina,Brian H.Y. Chung,Wai Lap Wong,Yoyo W. Y. Chu,Gary Tsz Kin Mok,Eitan Kerem,Joel Reiter,Namasivayam Ambalavanan,Scott A. Anderson,David R. Kelly,Joseph T. Shieh,Taryn C. Rosenthal,Kristin Scheible,Laurie A. Steiner,M. Anwar Iqbal,Margaret L. McKinnon,Sara Jane Hamilton,Kamilla Schlade-Bartusiak,Dawn English,Glenda Hendson,Elizabeth Roeder,Thomas S. DeNapoli,Rebecca O. Littlejohn,Daynna J. Wolff,Carol L. Wagner,Alison Yeung,David Francis,Elizabeth K. Fiorino,Morris Edelman,Joyce E. Fox,Denise A. Hayes,Sandra Janssens,Elfride De Baere,Björn Menten,Anne Loccufier,Lieve Vanwalleghem,Philippe Moerman,Yves Sznajer,Amy S. Lay,Jennifer Kussmann,Jasneek Chawla,Jasneek Chawla,Diane J. Payton,Gael E. Phillips,Erwin Brosens,Dick Tibboel,Annelies de Klein,Isabelle Maystadt,Richard Fisher,Neil J. Sebire,Alison Male,Maya Chopra,Jason Pinner,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Melissa Lees,Zoe Mead,Oliver Quarrell,Richard Sayers,Martina Owens,Charles Shaw-Smith,Janet Lioy,Eileen McKay,Nicole de Leeuw,Ilse Feenstra,Liesbeth Spruijt,Frances Elmslie,Timothy Thiruchelvam,Carlos A. Bacino,Claire Langston,James R. Lupski,Partha Sen,Edwina J. Popek,Pawel Stankiewicz +93 more
TL;DR: It is demonstrated that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.
Journal ArticleDOI
Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis.
Barbara A. Gruner,Thomas S. DeNapoli,Walter S. Andrews,Gail E. Tomlinson,Laura C. Bowman,Steven D. Weitman +5 more
TL;DR: It is important to consider the possibility of Gardner syndrome or familial adenomatous polyposis in these patients, because hepatocellular carcinoma is uncommon in the pediatric and adolescent population.
Journal ArticleDOI
Coexistent Chorangioma and Hepatic Adenoma in One Twin Placenta: A Case Report and Review of the Literature.
TL;DR: The co-occurrence of a chorangioma and hepatic adenoma as a grossly single lesion on the fetal surface of a diamniotic dichorionic twin placenta is reported.
Journal ArticleDOI
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Przemyslaw Szafranski,Ewelina Kośmider,Ewelina Kośmider,Qian Liu,Justyna A. Karolak,Justyna A. Karolak,Lauren Currie,Sandhya Parkash,Stephen G. Kahler,Elizabeth Roeder,Rebecca O. Littlejohn,Thomas S. DeNapoli,F. Shardonofsky,Cody Henderson,Cody Henderson,George C. Powers,George C. Powers,Virginie Poisson,Denis Bérubé,Luc L. Oligny,Jacques L. Michaud,Sandra Janssens,Kris De Coen,Jo Van Dorpe,Annelies Dheedene,Matthew T. Harting,Matthew D. Weaver,Amir M. Khan,Nina Tatevian,Jennifer A. Wambach,Kathleen Gibbs,Edwina J. Popek,Anna Gambin,Pawel Stankiewicz +33 more
TL;DR: The data show that, in addition to mediating recurrentCNVs, L1 and Alu retrotransposons can predispose the human genome to formation of variably sized CNVs, both of clinical and evolutionary relevance.
Journal ArticleDOI
Necrotizing Fasciitis of the Right Lower Extremity from Ruptured Appendicitis: Case Report.
TL;DR: A 16-year-old girl with history of dermatomyositis in remission for several years presented with complaints of right thigh pain and elevated inflammatory markers and was diagnosed with right lower extremity necrotizing fasciitis secondary to ruptured appendix as mentioned in this paper.