Ashley Wilson
Columbia University
17 Papers
12 Citations
Ashley Wilson is an academic researcher from Columbia University. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 9, co-authored 15 publications. Previous affiliations of Ashley Wilson include Morgan Stanley Children's Hospital & Boston Children's Hospital.
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Papers
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Nicole Revencu,Laurence M. Boon,Antonella Mendola,Maria R. Cordisco,Josée Dubois,Philippe Clapuyt,Frank Hammer,David J. Amor,Alan D. Irvine,Eulalia Baselga,Anne Dompmartin,S. Syed,Ana Martín-Santiago,Lesley C. Adès,Felicity Collins,Janine Smith,Sarah A. Sandaradura,Victoria R. Barrio,Patricia E. Burrows,Francine Blei,Mariarosaria Cozzolino,Nicola Brunetti-Pierri,Asunción Vicente,Marc Abramowicz,Julie Désir,Catheline Vilain,Wendy K. Chung,Ashley Wilson,Carol A. Gardiner,Yim Dwight,David J.E. Lord,Leona Fishman,Cheryl Cytrynbaum,Sarah L. Chamlin,Fred Ghali,Yolanda Gilaberte,Shelagh Joss,María del Carmen Boente,Christine Léauté-Labrèze,Marie Ange Delrue,Susan J. Bayliss,Loreto Martorell,María Antonia González-Enseñat,Juliette Mazereeuw-Hautier,Brid O'Donnell,Didier Bessis,Reed E. Pyeritz,Aicha Salhi,Oon T. Tan,Orli Wargon,John B. Mulliken,Miikka Vikkula +51 more
TL;DR: In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up.
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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Mustapha Amyere,Nicole Revencu,Raphaël Helaers,Eleonore Pairet,Eulalia Baselga,Maria R. Cordisco,Wendy K. Chung,Josée Dubois,Jean-Philippe Lacour,Loreto Martorell,Juliette Mazereeuw-Hautier,Reed E. Pyeritz,David J. Amor,Annouk Bisdorff,Francine Blei,Hannah M Bombei,Anne Dompmartin,David G. Brooks,Juliette Dupont,María Antonia González-Enseñat,Ilona J. Frieden,Marion Gérard,Malin Kvarnung,Andrea Hanson-Kahn,Louanne Hudgins,Christine Léauté-Labrèze,Catherine McCuaig,Denise W. Metry,Philippe Parent,Carle Paul,Florence Petit,A. Phan,Isabelle Quéré,Aicha Salhi,Anne M. Turner,Pierre Vabres,Asunción Vicente,Orli Wargon,Shoji Watanabe,Lisa Weibel,Ashley Wilson,Marcia C. Willing,John B. Mulliken,Laurence M. Boon,Miikka Vikkula +44 more
TL;DR: The data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.
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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.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Jennifer M. Bain,Megan T. Cho,Aida Telegrafi,Ashley Wilson,Susan Sklower Brooks,Christina Botti,Gordon C. Gowans,Leigh Anne Autullo,Vidya Krishnamurthy,Marcia C. Willing,Tomi L. Toler,Bruria Ben-Zev,Orly Elpeleg,Yufeng Shen,Kyle Retterer,Kristin G. Monaghan,Wendy K. Chung +16 more
TL;DR: Six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures are identified with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome.
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De novo mutations in PURA are associated with hypotonia and developmental delay
Akemi J. Tanaka,Renkui Bai,Megan T. Cho,Kwame Anyane-Yeboa,Priyanka Ahimaz,Ashley Wilson,Fran Kendall,Beverly N. Hay,Timothy J. Moss,Monica Nardini,Mislen Bauer,Kyle Retterer,Jane Juusola,Wendy K. Chung +13 more
- 01 Oct 2015
TL;DR: Six unrelated children who were identified by clinical whole-exome sequencing to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures are described.