Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

Por Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S.
Publicado no JIMD Rep (2015)

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Por McConkie-Rosell, Allyn, Hooper, Stephen R., Pena, Loren D. M., Schoch, Kelly, Spillmann, Rebecca C., Jiang, Yong-Hui, Cope, Heidi, Palmer, Christina, Shashi, Vandana
Publicado no J Genet Couns (2018)

Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in t...

Por McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., Pena, Loren D.M.
Publicado no J Pediatr (2016)

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Por Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Vockley, Cate Walsh, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A, Arnold, Georgianne L, Vockley, Jerry
Publicado no Mol Genet Metab (2016)

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Por Walley, Nicole M., Pena, Loren D. M., Hooper, Stephen R., Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C., Strong, Kimberly, McCray, Alexa T., Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L., Shashi, Vandana
Publicado no BMC Health Serv Res (2018)

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

Por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado no Cold Spring Harb Mol Case Stud (2018)

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Por Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya
Publicado no Hum Mol Genet (2018)

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)

IRF2BPL Is Associated with Neurological Phenotypes

Por Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.
Publicado no Am J Hum Genet (2018)

IRF2BPL Is Associated with Neurological Phenotypes

Por Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.
Publicado no Am J Hum Genet (2018)