Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report

por Zegarra, Walter A., Gallentine, William B., Ruzhnikov, Maura R., McAndrews, Catherine A., Gloyn, Anna L., Addala, Ananta
Publicado 2023

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

por Brimble, Elise, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather
Publicado 2023

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

por Dahimene, Shehrazade, von Elsner, Leonie, Holling, Tess, Mattas, Lauren S, Pickard, Jess, Lessel, Davor, Pilch, Kjara S, Kadurin, Ivan, Pratt, Wendy S, Zhulin, Igor B, Dai, Hongzheng, Hempel, Maja, Ruzhnikov, Maura R Z, Kutsche, Kerstin, Dolphin, Annette C
Publicado 2022

Identification of protein quality control regulators using a Drosophila model of TPI deficiency

por Hrizo, Stacy L., Eicher, Samantha L., Myers, Tracey D., McGrath, Ian, Wodrich, Andrew P. K., Venkatesh, Hemanth, Manjooran, Daniel, Swoger, Sabrina, Gagnon, Kim, Bruskin, Matthew, Lebedev, Maria V., Zheng, Sherry, Vitantonio, Ana, Kim, Sungyoun, Lamb, Zachary J., Vogt, Andreas, Ruzhnikov, Maura R.Z., Palladino, Michael J.
Publicado 2021

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

por van de Stadt, Stephanie I. W., Mooyer, Petra A. W., Dijkstra, Inge M. E., Dekker, Conny J. M., Vats, Divya, Vera, Moin, Ruzhnikov, Maura R. Z., van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A., Hui, Joannie, Vaz, Frédéric M., Ebberink, Merel S., Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Publicado 2021

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

por Goenka, Sneha D., Gorzynski, John E., Shafin, Kishwar, Fisk, Dianna G., Pesout, Trevor, Jensen, Tanner D., Monlong, Jean, Chang, Pi-Chuan, Baid, Gunjan, Bernstein, Jonathan A., Christle, Jeffrey W., Dalton, Karen P., Garalde, Daniel R., Grove, Megan E., Guillory, Joseph, Kolesnikov, Alexey, Nattestad, Maria, Ruzhnikov, Maura R. Z., Samadi, Mehrzad, Sethia, Ankit, Spiteri, Elizabeth, Wright, Christopher J., Xiong, Katherine, Zhu, Tong, Jain, Miten, Sedlazeck, Fritz J., Carroll, Andrew, Paten, Benedict, Ashley, Euan A.
Publicado 2022

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

por Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Publicado 2019

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