Search Results - Muir, Alison M

Essential Roles of Bmp1 and Tll1 in Postnatal Root Dentin Formation by Wang, Jun, Muir, Alison M., Ren, Yinshi, Massoudi, Dawiyat, Greenspan, Daniel S., Feng, Jian Q.

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WBSCR16 is a Guanine Nucleotide Exchange Factor (GEF) Important for Mitochondrial Fusion by Huang, Guorui, Massoudi, Dawiyat, Muir, Alison M., Joshi, Dinesh C., Zhang, Chuan-Li, Chiu, Shing Yan, Greenspan, Daniel S.

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Double somatic mosaicism in a child with Dravet syndrome by Muir, Alison M., King, Chontelle, Schneider, Amy L., Buttar, Aman S., Scheffer, Ingrid E., Sadleir, Lynette G., Mefford, Heather C.

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BMP1-like Proteinases Are Essential to the Structure and Wound Healing of Skin by Muir, Alison M., Massoudi, Dawiyat, Nguyen, Ngon, Keene, Douglas R., Lee, Se-Jin, Birk, David E., Davidson, Jeffrey M., Marinkovich, M. Peter, Greenspan, Daniel S.

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Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice by Muir, Alison M., Ren, Yinshi, Butz, Delana Hopkins, Davis, Nicholas A., Blank, Robert D., Birk, David E., Lee, Se-Jin, Rowe, David, Feng, Jian Q., Greenspan, Daniel S.

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Parental Mosaicism in “De Novo” Epileptic Encephalopathies by Myers, Candace T., Hollingsworth, Georgina, Muir, Alison M., Schneider, Amy L., Thuesmunn, Zoe, Knupp, Allison, King, Chontelle, Lacroix, Amy, Mehaffey, Michele G., Berkovic, Samuel F., Carvill, Gemma L., Sadleir, Lynette G., Scheffer, Ingrid E., Mefford, Heather C.

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Genetic heterogeneity in infantile spasms by Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.

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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay by Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities by Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease by Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Eshghi, Erfan Aref, Muir, Alison M., Cao, Kajia, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Ganetzky, Rebecca D., Muraresku, Colleen C., Peterson, James T, Spinner, Nancy B., Wallace, Douglas C., Dulik, Matthew C., Falk, Marni J.

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants by 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.

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

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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly by Tsai, Meng-Han, Muir, Alison M., Wang, Won-Jing, Kang, Yi-Ning, Yang, Kun-Chuan, Chao, Nian-Hsin, Wu, Mei-Feng, Chang, Ying-Chao, Porter, Brenda E., Jansen, Laura A., Sebire, Guillaume, Deconinck, Nicolas, Fan, Wen-Lang, Su, Shih-Chi, Chung, Wen-Hung, Almanza Fuerte, Edith P., Mehaffey, Michele G., Ng, Ching-Ching, Chan, Chung-Kin, Lim, Kheng-Seang, Leventer, Richard J., Lockhart, Paul J., Riney, Kate, Damiano, John A., Hildebrand, Michael S., Mirzaa, Ghayda M., Dobyns, William B., Berkovic, Samuel F., Scheffer, Ingrid E., Tsai, Jin-Wu, Mefford, Heather C.

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Pathogenic MAST3 variants in the STK domain are associated with epilepsy by Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick, Ian Andrews, P, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot by Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.

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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot by Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy by van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak

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