Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
Petrovski, Slavé, Aggarwal, Vimla, Giordano, Jessica L, Stosic, Melissa, Wou, Karen, Bier, Louise, Spiegel, Erica, Brennan, Kelly, Stong, Nicholas, Jobanputra, Vaidehi, Ren, Zhong, Zhu, Xiaolin, Mebane, Caroline, Nahum, Odelia, Wang, Quanli, Kamalakaran, Sitharthan, Malone, Colin, Anyane-Yeboa, Kwame, Miller, Russell, Levy, Brynn, Goldstein, David B, Wapner, Ronald J
Published in The Lancet (British edition) (23.02.2019)
Published in The Lancet (British edition) (23.02.2019)
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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis
Petrovski, Slavé, Todd, Jamie L, Durheim, Michael T, Wang, Quanli, Chien, Jason W, Kelly, Fran L, Frankel, Courtney, Mebane, Caroline M, Ren, Zhong, Bridgers, Joshua, Urban, Thomas J, Malone, Colin D, Finlen Copeland, Ashley, Brinkley, Christie, Allen, Andrew S, O'Riordan, Thomas, McHutchison, John G, Palmer, Scott M, Goldstein, David B
Published in American journal of respiratory and critical care medicine (01.07.2017)
Published in American journal of respiratory and critical care medicine (01.07.2017)
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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Sudnawa, Khemika K., Li, Wenxing, Calamia, Sean, Kanner, Cara H., Bain, Jennifer M., Abdelhakim, Aliaa H., Geltzeiler, Alexa, Mebane, Caroline M., Provenzano, Frank A., Sands, Tristan T., Fee, Robert J., Montes, Jacqueline, Shen, Yufeng, Chung, Wendy K.
Published in Genetics in medicine (01.08.2024)
Published in Genetics in medicine (01.08.2024)
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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic
Kowanda, Michelle, Cartner, Lindsey, Kentros, Catherine, Geltzeiler, Alexa R., Singer, Kaitlyn E., Weaver, W. Curtis, Lehman, Christopher D., Smith, Simone, Smith, Rebecca Sheedy, Walsh, Lauren Kasparson, Diehl, Katharine, Nagpal, Natalie, Brooks, Elizabeth, Mebane, Caroline M., Wilson, Ashley L., Marvin, Alison R., White, L. Casey, Law, J. Kiely, Jensen, William, Daniels, Amy M., Tjernagel, Jennifer, Snyder, LeeAnne Green, Taylor, Cora M., Chung, Wendy K.
Published in Journal of child neurology (01.08.2021)
Published in Journal of child neurology (01.08.2021)
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Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
Boyle, Lia, Rao, Lu, Kaur, Simranpreet, Fan, Xiao, Mebane, Caroline, Hamm, Laura, Thornton, Andrew, Ahrendsen, Jared T., Anderson, Matthew P., Christodoulou, John, Gennerich, Arne, Shen, Yufeng, Chung, Wendy K.
Published in HGG advances (08.04.2021)
Published in HGG advances (08.04.2021)
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Clinical and genomic characterization of 8p cytogenomic disorders
Okur, Volkan, Hamm, Laura, Kavus, Haluk, Mebane, Caroline, Robinson, Scott, Levy, Brynn, Chung, Wendy K.
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study
Stanley, Kate E., Bobbili, Dheeraj R., Dhindsa, Ryan S., May, Patrick, Alldredge, Brian K., Allen, Andrew S., Altmüller, Janine, Amrom, Dina, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Bluvstein, Judith, Boro, Alex, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Chung, Seo‐Kyung, Cieuta‐Walti, Cécile, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Jorgensen, Andrea, Joshi, Sucheta, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Kunz, Wolfram S., Langley, Sarah R., LeGuern, Eric, Lerche, Holger, Leu, Costin, Lortie, Anne, Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Motika, Paul V., Muhle, Hiltrud, Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Ottman, Ruth, O’Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Peter, Sarah, Petrou, Steven, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Singh, Rani K., Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Widdess‐Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zimprich, Fritz
Published in Epilepsia (Copenhagen) (01.03.2022)
Published in Epilepsia (Copenhagen) (01.03.2022)
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