New roles for the external globus pallidus in basal ganglia circuits and behavior
Gittis, Aryn H, Berke, Joshua D, Bevan, Mark D, Chan, C Savio, Mallet, Nicolas, Morrow, Michelle M, Schmidt, Robert
Published in The Journal of neuroscience (12.11.2014)
Published in The Journal of neuroscience (12.11.2014)
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FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder
Fell, Christopher W, Hagelkruys, Astrid, Cicvaric, Ana, Horrer, Marion, Liu, Lucy, Li, Joshua Shing Shun, Stadlmann, Johannes, Polyansky, Anton A, Mereiter, Stefan, Tejada, Miguel Angel, Kokotović, Tomislav, Achuta, Venkat Swaroop, Scaramuzza, Angelica, Twyman, Kimberly A, Morrow, Michelle M, Juusola, Jane, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Choudhury, Biswa, Andersen, Thomas Levin, Wirnsberger, Gerald, Holmskov, Uffe, Perrimon, Norbert, Žagrović, Bojan, Monje, Francisco J, Moeller, Jesper Bonnet, Penninger, Josef M, Nagy, Vanja
Published in EMBO molecular medicine (07.09.2022)
Published in EMBO molecular medicine (07.09.2022)
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Novel NUDT2 variant causes intellectual disability and polyneuropathy
Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Published in Annals of clinical and translational neurology (01.11.2020)
Published in Annals of clinical and translational neurology (01.11.2020)
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A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Haque, Bushra, Guirguis, George, Curtis, Meredith, Mohsin, Hera, Walker, Susan, Morrow, Michelle M, Costain, Gregory
Published in Journal of medical genetics (01.08.2024)
Published in Journal of medical genetics (01.08.2024)
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Control of muscle synergies by cortical ensembles
Morrow, Michelle M, Pohlmeyer, Eric A, Miller, Lee E
Published in Advances in experimental medicine and biology (01.01.2009)
Published in Advances in experimental medicine and biology (01.01.2009)
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Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
Ralph, Douglas, Levine, Michael A., Richard, Gabriele, Morrow, Michelle M., Flynn, Elizabeth K., Uitto, Jouni, Li, Qiaoli
Published in Human mutation (01.09.2022)
Published in Human mutation (01.09.2022)
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Tan, Senwei, Zhang, Qiumeng, Zhan, Rui, Luo, Si, Han, Yaoling, Yu, Bin, Muss, Candace, Pingault, Veronique, Marlin, Sandrine, Delahaye, Andrée, Peters, Sophia, Perne, Claudia, Kreiß, Martina, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Racine, Caroline, Tran-Mau-Them, Frederic, Phornphutkul, Chanika, Besterman, Aaron D, Martinez, Julian, Wang, Xiuxia, Tian, Xiaoyu, Srivastava, Siddharth, Urion, David K, Madden, Jill A, Saif, Hind Al, Morrow, Michelle M, Begtrup, Amber, Li, Xing, Jurgensmeyer, Sarah, Leahy, Peter, Zhou, Shimin, Li, Faxiang, Hu, Zhengmao, Tan, Jieqiong, Xia, Kun, Guo, Hui
Published in Molecular psychiatry (29.10.2024)
Published in Molecular psychiatry (29.10.2024)
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De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature
Albokhari, Daniah, Pritchard, Amanda Barone, Beil, Adelyn, Muss, Candace, Bupp, Caleb, Grange, Dorothy K., Delplancq, Geoffroy, Heeley, Jennifer, Zuteck, Melissa, Morrow, Michelle M., Kuentz, Paul, Palculict, Timothy Blake, Hoover‐Fong, Julie E.
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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De novo KCNA6 variants with attenuated K V 1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Reich, Adi, Blevins, Amy, Sala-Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P Y Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Reich, Adi, Blevins, Amy, Sala-Coromina, Júlia, Accogli, Andrea, tuna, Sara, Alesandrini, Marie, Au, P Y Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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Journal Article
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, Zahraei, Seyed Mohammadsaleh, Alabdi, Lama, Tamim, Abdullah, Hashem, Mais O., Ababneh, Faroug, Morrow, Michelle M, Curry, Cynthia, Tam, Allison, Ruedy, Jessica, Bhambhani, Vikas, Veith, Regan, Strømme, Petter, Efthymiou, Stephanie, Alkuraya, Fowzan S, Moreno‐De‐Luca, Andres, Burglen, Lydie, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, Janette diMonda, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., Peeters, Hilde
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.
Published in Pediatric neurology (01.01.2022)
Published in Pediatric neurology (01.01.2022)
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Published in Brain (London, England : 1878) (01.08.2023)
Published in Brain (London, England : 1878) (01.08.2023)
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Journal Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François
Published in Human genetics (01.01.2022)
Published in Human genetics (01.01.2022)
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