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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.·2018·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2017.12.015
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Metadata

Authors
Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., Nouri, K., Farina, L., Dvorsky, R., Lepri, F., Buchholzer, M., Konopatzki, R., Walsh, L., Payne, K., Pierpont, M. E., Vergano, S. S., Langley, K. G., Larsen, D., Farwell, K. D., Tang, S., Mroske, C., Gallotta, I., Di Schiavi, E., della Monica, M., Lugli, L., Rossi, C., Seri, M., Cocchi, G., Henderson, L., Baskin, B., Alders, M., Mendoza-Londono, R., Dupuis, L., Nickerson, D. A., Chong, J. X., Meeks, N., Brown, K., Causey, T., Cho, M. T., Demuth, S., Digilio, M. C., Gelb, B. D., Bamshad, M. J., Zenker, M., Ahmadian, M. R., Hennekam, R. C., Tartaglia, M., & Mirzaa, G. M.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2018-02
Volume
102
Issue
2
Pages
309-320
ISSN
0002-9297
DOI
10.1016/j.ajhg.2017.12.015
Cited by
188
References
5
Language
en
Licence
Funders
  • National Human Genome Research Institute
  • National Institute of Neurological Disorders and Stroke (K08NS092898)
  • University of Washington
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development
  • National Heart, Lung, and Blood Institute (HG006493, U01HL131003, UM1HL098123, UM1HL098147, UM1HL098162, UM1HL128711, UM1HL128761)
  • Heinrich-Heine-Universität Düsseldorf (9772617)
  • Associazione Italiana per la Ricerca sul Cancro (IG17583)
  • Fondazione Bambino Gesù
  • National Institutes of Health (P40 OD010440)
  • Center for Mendelian Genomics, University of Washington
  • Ministero della Salute (RF-2011-02349938)

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CoChat. (2026). Citation check: Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. https://app.cochat.ai/papers/10.1016/j.ajhg.2017.12.015
The paper
Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., Nouri, K., Farina, L., Dvorsky, R., Lepri, F., Buchholzer, M., Konopatzki, R., Walsh, L., Payne, K., Pierpont, M. E., Vergano, S. S., Langley, K. G., Larsen, D., Farwell, K. D., . . . Mirzaa, G. M. (2018). Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.12.015