Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica L., Wang, Harold Z., Currall, Benjamin B., O’Keefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir E., Whelan, Christopher W., Hao, Stephanie P., Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan L., Zhao, Xuefang, Austin-Tse, Christina A., Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla S., Lucente, Diane, Gauthier, Laura D., Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, Norton, Mary E., MacKenzie, Tippi C., Devlin, Bernie, Gilmore, Kelly, Powell, Bradford C., Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, Sanders, Stephan J., MacArthur, Daniel G., Hodge, Jennelle C., O'Donnell-Luria, Anne, Rehm, Heidi L., Vora, Neeta L., Levy, Brynn, Brand, Harrison, Wapner, Ronald J., Talkowski, Michael E.
Published in American journal of human genetics (07.09.2023)
Published in American journal of human genetics (07.09.2023)
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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Märzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Peña, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander
Published in Frontiers in pediatrics (23.06.2020)
Published in Frontiers in pediatrics (23.06.2020)
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Journal Article
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica L, Wang, Harold Z, Currall, Benjamin B, O'keefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir E, Whelan, Christopher W, Hao, Stephanie P, Weisburd, Ben W, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan L, Zhao, Xuefang, Austin-Tse, Christina A, Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla, Lucente, Diane, Gauthier, Laura D, Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, Joon-Yong, An, Dong, Shan, Norton, Mary E, Mackenzie, Tippi, Devlin, Bernie, Gilmore, Kelly, Powell, Bradford, Brandt, Alicia, Vetrini, Francesco, Divito, Michelle, Sanders, Stephan J, Macarthur, Daniel G, Hodge, Jennelle C, O'donnell-Luria, Anne, Rehm, Heidi, Vora, Neeta, Levy, Brynn, Brand, Harrison, Wapner, Ronald, Talkowski, Michael E
Published in bioRxiv (23.09.2022)
Published in bioRxiv (23.09.2022)
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