17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report

Por Henry, Rohan K., Astbury, Caroline, Stratakis, Constantine A., Hickey, Scott E.
Publicado no Eur J Med Genet (2016)

Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

Por Bowden, Sasigarn A., Cozzi, Corin, Hickey, Scott E., Thrush, Devon Lamb, Astbury, Caroline, Nuthakki, Sushma
Publicado em 2013

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis(†)

Por Mukherjee, Kusumika, Ishii, Kana, Pillalamarri, Vamsee, Kammin, Tammy, Atkin, Joan F., Hickey, Scott E., Xi, Qiongchao J., Zepeda, Cinthya J., Gusella, James F., Talkowski, Michael E., Morton, Cynthia C., Maas, Richard L., Liao, Eric C.
Publicado no Hum Mol Genet (2016)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Por Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Publicado no Am J Hum Genet (2016)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Por Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Publicado no Am J Hum Genet (2017)

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Por Harel, Tamar, Yoon, Wan Hee, Garone, Caterina, Gu, Shen, Coban-Akdemir, Zeynep, Eldomery, Mohammad K., Posey, Jennifer E., Jhangiani, Shalini N., Rosenfeld, Jill A., Cho, Megan T., Fox, Stephanie, Withers, Marjorie, Brooks, Stephanie M., Chiang, Theodore, Duraine, Lita, Erdin, Serkan, Yuan, Bo, Shao, Yunru, Moussallem, Elie, Lamperti, Costanza, Donati, Maria A., Smith, Joshua D., McLaughlin, Heather M., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Pippucci, Tommaso, Magini, Pamela, Seri, Marco, Zeviani, Massimo, Hirano, Michio, Hunter, Jill V., Srour, Myriam, Zanigni, Stefano, Lewis, Richard Alan, Muzny, Donna M., Lotze, Timothy E., Boerwinkle, Eric, Gibbs, Richard A., Hickey, Scott E., Graham, Brett H., Yang, Yaping, Buhas, Daniela, Martin, Donna M., Potocki, Lorraine, Graziano, Claudio, Bellen, Hugo J., Lupski, James R.
Publicado no Am J Hum Genet (2016)