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Displaying 4 results.
    • Journal article
    Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
    Wat, Margaret J Veenma, Danielle Hogue, Jacob Holder, Ashley M Yu, Zhiyin Wat, Jeanette J Hanchard, Neil Shchelochkov, Oleg A Fernandes, Caraciolo J Johnson, Anthony Lally, Kevin P Slavotinek, Anne Danhaive, Olivier[UCL] Schaible, Thomas Cheung, Sau Wai Rauen, Katherine A Tonk, Vijay S Tibboel, Dick de Klein, Annelies Scott, Daryl A (2011) Journal of medical genetics — Vol. 48, no.5, p. 299-307 (2011)
    • Journal article
    Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
    Slavotinek, Anne Rego, Shannon Sahin-Hodoglugil, Nuriye Kvale, Mark Lianoglou, Billie Yip, Tiffany Hoban, Hannah Outram, Simon Anguiano, Beatrice Chen, Flavia Michelson, Jeremy Cilio, Maria-Roberta[UCL] Curry, Cynthia Gallagher, Renata C Gardner, Marisa Kuperman, Rachel Mendelsohn, Bryce Sherr, Elliott Shieh, Joseph Strober, Jonathan Tam, Allison Tenney, Jessica Weiss, William Whittle, Amy Chin, Garrett Faubel, Amanda Prasad, Hannah Mavura, Yusuph Van Ziffle, Jessica Devine, W Patrick Hodoglugil, Ugur Martin, Pierre-Marie Sparks, Teresa N Koenig, Barbara Ackerman, Sara Risch, Neil Kwok, Pui-Yan Norton, Mary E (2023) NPJ genomic medicine — Vol. 8, no.1, p. 10 [1-10] (2023)
    • Journal article
    Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
    Slavotinek, Anne Rego, Shannon Sahin-Hodoglugil, Nuriye Kvale, Mark Lianoglou, Billie Yip, Tiffany Hoban, Hannah Outram, Simon Anguiano, Beatrice Chen, Flavia Michelson, Jeremy Cilio, Maria-Roberta[UCL] Curry, Cynthia Gallagher, Renata C Gardner, Marisa Kuperman, Rachel Mendelsohn, Bryce Sherr, Elliott Shieh, Joseph Strober, Jonathan Tam, Allison Tenney, Jessica Weiss, William Whittle, Amy Chin, Garrett Faubel, Amanda Prasad, Hannah Mavura, Yusuph Van Ziffle, Jessica Devine, W Patrick Hodoglugil, Ugur Martin, Pierre-Marie Sparks, Teresa N Koenig, Barbara Ackerman, Sara Risch, Neil Kwok, Pui-Yan Norton, Mary E (2023) NPJ genomic medicine — Vol. 8, no.1, p. 34 (2023)
    • Journal article
    Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele FitzPatrick, David R. Nuernberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L. Chitayat, David Houge, Gunnar Fernandez-Martinez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C. M. von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nuernberg, Peter Reis, Andre Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 3, p. 550-560 (2007)