NRAS associated RASopathy and embryonal rhabdomyosarcoma
Garren, Benjamin, Stephan, Mark, Hogue, Jacob S.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
Uncertainty: An Uncomfortable Companion to Decision-making for Infants
Krick, Jeanne A., Hogue, Jacob S., Reese, Tyler R., Studer, Matthew A.
Published in Pediatrics (Evanston) (01.08.2020)
Published in Pediatrics (Evanston) (01.08.2020)
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Journal Article
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
McTiernan, Nina, Tranebjærg, Lisbeth, Bjørheim, Anna S., Hogue, Jacob S., Wilson, William G., Schmidt, Berkley, Boerrigter, Melissa M., Nybo, Maja L., Smeland, Marie F., Tümer, Zeynep, Arnesen, Thomas
Published in Human genetics (01.08.2022)
Published in Human genetics (01.08.2022)
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Journal Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Kuechler, Alma, Willemsen, Marjolein H., Albrecht, Beate, Bacino, Carlos A., Bartholomew, Dennis W., van Bokhoven, Hans, van den Boogaard, Marie Jose H., Bramswig, Nuria, Büttner, Christian, Cremer, Kirsten, Czeschik, Johanna Christina, Engels, Hartmut, van Gassen, Koen, Graf, Elisabeth, van Haelst, Mieke, He, Weimin, Hogue, Jacob S., Kempers, Marlies, Koolen, David, Monroe, Glen, de Munnik, Sonja, Pastore, Matthew, Reis, André, Reuter, Miriam S., Tegay, David H., Veltman, Joris, Visser, Gepke, van Hasselt, Peter, Smeets, Eric E. J., Vissers, Lisenka, Wieland, Thomas, Wissink, Willemijn, Yntema, Helger, Zink, Alexander Michael, Strom, Tim M., Lüdecke, Hermann-Josef, Kleefstra, Tjitske, Wieczorek, Dagmar
Published in Human genetics (01.01.2015)
Published in Human genetics (01.01.2015)
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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case
Minor, Agata, Shinawi, Marwan, Hogue, Jacob S., Vineyard, Marisa, Hamlin, Damara R., Tan, Christopher, Donato, Kirsten, Wysinger, Latrice, Botes, Shaun, Das, Soma, del Gaudio, Daniela
Published in Gene (10.03.2014)
Published in Gene (10.03.2014)
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Journal Article
Grip and Percussion Myotonia in Myotonic Dystrophy Type 1
Hughes, Brian N., DO, Hogue, Jacob S., MD, Hsieh, David T., MD
Published in The Journal of pediatrics (01.05.2014)
Published in The Journal of pediatrics (01.05.2014)
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Journal Article
Mupirocin Resistance Related to Increasing Mupirocin Use in Clinical Isolates of Methicillin-Resistant Staphylococcus aureus in a Pediatric Population
Hogue, Jacob S, Buttke, Patricia, Braun, LoRanee E, Fairchok, Mary P
Published in Journal of Clinical Microbiology (01.07.2010)
Published in Journal of Clinical Microbiology (01.07.2010)
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Journal Article
Index of suspicion. Case 1: Global developmental delay and seizures in a 34-month-old boy. Case 2: Ecchymoses on legs and refusal to walk in a 16-year-old autistic boy. Case 3: Progressive breathing difficulty in a 5-year-old girl
Barbera, Stephen E, Hogue, Jacob S, Hsieh, David T, Elrod, Marilisa, Olson, Christina, Kutney, Katherine, Strawbridge, Heather
Published in Pediatrics in review (01.08.2014)
Published in Pediatrics in review (01.08.2014)
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Journal Article
Congenital CMV Screening in Infants with Failed Newborn Hearing Screens
Parsons, Emily, Teague, Katie, Schaefer, Lynne, Hogue, Jacob, Kunz, Anjali N., Sainato, Rebecca J.
Published in Pediatrics (Evanston) (01.03.2021)
Published in Pediatrics (Evanston) (01.03.2021)
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Journal Article
Cohesin complex-associated holoprosencephaly
Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Journal Article
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., McPherson, Peter S.
Published in Nature communications (22.08.2024)
Published in Nature communications (22.08.2024)
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