De Novo Mutations in Patients with Ataxic CP

Por Agarwal, Sonika, Emrick, Lisa
Publicado no Pediatr Neurol Briefs (2015)

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome()

Por El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando
Publicado em 2013

EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease

Por Calame, Daniel G., Hainlen, Meagan, Takacs, Danielle, Ferrante, Leah, Pence, Kayla, Emrick, Lisa T., Chao, Hsiao-Tuan
Publicado no Neurol Genet (2020)

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

Por El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.
Publicado no Mitochondrion (2014)

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

Por El-Hattab, Ayman W., Hsu, Jean W., Emrick, Lisa T., Wong, Lee-Jun C., Craigen, William J., Jahoor, Farook, Scaglia, Fernando
Publicado em 2012

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

Por El-Hattab, Ayman W., Emrick, Lisa T, Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando
Publicado no Mol Genet Metab (2016)

Prenatal Diagnosis of CLOVES Syndrome Confirmed by Detection of a Mosaic PIK3CA Mutation in Cultured Amniocytes

Por Emrick, Lisa T., Murphy, Lauren, Shamshirsaz, Alireza A., Ruano, Rodrigo, Cassady, Christopher I., Liu, Liu, Chang, Fengqi, Sutton, V. Reid, Li, Marilyn, Van den Veyver, Ignatia B.
Publicado no Am J Med Genet A (2014)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

Por Ng, Bobby G., Rosenfeld, Jill A., Emrick, Lisa, Jain, Mahim, Burrage, Lindsay C., Lee, Brendan, Craigen, William J., Bearden, David R., Graham, Brett H., Freeze, Hudson H.
Publicado no Am J Hum Genet (2018)

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado no Front Neurosci (2019)

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado no Front Neurosci (2020)

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Por Donti, Taraka R., Cappuccio, Gerarda, Hubert, Leroy, Neira, Juanita, Atwal, Paldeep S., Miller, Marcus J., Cardon, Aaron L., Sutton, V. Reid, Porter, Brenda E., Baumer, Fiona M., Wangler, Michael F., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado no Mol Genet Metab Rep (2016)

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

Por Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J, Bluske, Krista, Denise, Perry, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan
Publicado no Genet Med (2018)

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Por Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C., Goldstein, Amy
Publicado no J Inherit Metab Dis (2017)

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Por Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C., Goldstein, Amy
Publicado no J Inherit Metab Dis (2018)

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Por Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.
Publicado no PLoS Genet (2017)

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Por Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.
Publicado no Neurol Genet (2019)

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Por Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Publicado no Am J Hum Genet (2018)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Por Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
Publicado no Ann Clin Transl Neurol (2019)

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Por Mao, Dongxue, Reuter, Chloe M., Ruzhnikov, Maura R.Z., Beck, Anita E., Farrow, Emily G., Emrick, Lisa T., Rosenfeld, Jill A., Mackenzie, Katherine M., Robak, Laurie, Wheeler, Matthew T., Burrage, Lindsay C., Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A., Koenig, Mary K., Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H., Thiffault, Isabelle, Agrawal, Pankaj B., Bernstein, Jonathan A., Bellen, Hugo J., Chao, Hsiao-Tuan
Publicado no Am J Hum Genet (2020)

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Por Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.
Publicado no Genome Med (2017)