Approximations in English language arts: Scaffolding a shared teaching practice

por Schutz, Kristine M., Danielson, Katie A., Cohen, Julie
Publicado 2019

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

por Lance, Eboni I, Kronenbuerger, Martin, Cohen, Julie S, Furmanski, Orion, Singer, Harvey S, Fatemi, Ali
Publicado 2018

Clinical whole‐exome sequencing results impact medical management

por Niguidula, Nancy, Alamillo, Christina, Shahmirzadi Mowlavi, Layla, Powis, Zöe, Cohen, Julie S., Farwell Hagman, Kelly D.
Publicado 2018

Expansion of the genetic landscape of ERLIN2‐related disorders

por Srivastava, Siddharth, D’Amore, Angelica, Cohen, Julie S., Swanson, Lindsay C., Ricca, Ivana, Pini, Antonella, Fatemi, Ali, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Publicado 2020

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

por Srivastava, Siddharth, Macke, Erica L., Swanson, Lindsay C., Coulter, David, Klee, Eric W., Mullegama, Sureni V., Xie, Yili, Lanpher, Brendan C., Bedoukian, Emma C., Skraban, Cara M., Villard, Laurent, Milh, Mathieu, Leppert, Mary L. O., Cohen, Julie S.
Publicado 2021

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

por Gardner, Jennifer F., Cushion, Thomas D., Niotakis, Georgios, Olson, Heather E., Grant, P. Ellen, Scott, Richard H., Stoodley, Neil, Cohen, Julie S., Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M., Mugalaasi, Hood, Mullins, Jonathan G. L., Pilz, Daniela T., Fry, Andrew E.
Publicado 2018

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

por Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Publicado 2023

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

por Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza
Publicado 2020

ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

por Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.
Publicado 2022

DNM1 encephalopathy: A new disease of vesicle fission

por von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo
Publicado 2017

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

por Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H. J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, Wainwright, Brandon J.
Publicado 2021

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

por Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
Publicado 2017

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

por Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
Publicado 2021

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publicado 2021