Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

por Vasquez-Loarte, Tania, Thompson, John D., Merritt, J. Lawrence
Publicado 2020

Clinical manifestations and management of fatty acid oxidation disorders

por Merritt, J. Lawrence, MacLeod, Erin, Jurecka, Agnieszka, Hainline, Bryan
Publicado 2020

Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia

por Weber, Thomas J, Imel, Erik A, Carpenter, Thomas O, Peacock, Munro, Portale, Anthony A, Hetzer, Joel, Merritt, J Lawrence, Insogna, Karl
Publicado 2022

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

por Diaz, George A., Schulze, Andreas, McNutt, Markey C., Leão‐Teles, Elisa, Merritt, J. Lawrence, Enns, Gregory M., Batzios, Spyros, Bannick, Allison, Zori, Roberto T., Sloan, Leslie S., Potts, Susan L., Bubb, Gillian, Quinn, Anthony G.
Publicado 2021

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

por Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, U., Feigenbaum, Annette, Berry, Susan A., Le Mons, C., Bartley, James A, Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J. Lawrence, Schulze, A., Vockley, Gerard., Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, D.A., Marino, M., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Publicado 2014

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

por Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publicado 2018

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

por Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publicado 2018

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

por Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T, Aubertin, Gudrun, Estrada-Veras, Juvianee I, Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L, Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S, Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z, Mora, Sara, Palculict, Timothy B, Yang, Hui, Wren, Jonathan D, Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M, Nath, Swapan K, Hanna, Michael G, Kenna, Margaret, Merritt, J Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S, Haaf, Thomas, Alkuraya, Fowzan S, Gleeson, Joseph G, Varshney, Gaurav K
Publicado 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

por Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Publicado 2021