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2021
Marbach, Felix ORCID: 0000-0003-3953-6235, Stoyanov, Georgi, Erger, Florian
ORCID: 0000-0002-2768-1702, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah
ORCID: 0000-0001-9906-4968, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya
ORCID: 0000-0003-2172-8036, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber and Schaaf, Christian P.
(2021).
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet. Med., 23 (8).
S. 1465 - 1474.
LONDON:
SPRINGERNATURE.
ISSN 1530-0366
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana
ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih
ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa
ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Zara, Federico
ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello
ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kupper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger
ORCID: 0000-0001-7774-5025, Nurnberg, Peter, Nurnberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaser, Dieter, Huttel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita
ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca
ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark
ORCID: 0000-0003-1985-3671 and Senderek, Jan
(2021).
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain, 144 (5).
S. 1422 - 1435.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana
ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih
ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa
ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Zara, Federico
ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello
ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger
ORCID: 0000-0001-7774-5025, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita
ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca
ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark
ORCID: 0000-0003-1985-3671 and Senderek, Jan
(2021).
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain, 144.
S. 1422 - 1435.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
2020
Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique ORCID: 0000-0001-6593-7644, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hoelker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan and Wirth, Brunhilde
(2020).
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am. J. Hum. Genet., 107 (4).
S. 763 - 778.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2018
Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus
ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni
ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2018).
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol.-Genet., 4 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
2017
Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S., Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W. ORCID: 0000-0002-5456-7761, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmueller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A., Stirnberg, Ruediger, Sturm, Marc
ORCID: 0000-0002-6552-8362, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan
ORCID: 0000-0002-2786-8200, Heilmann-Heimbach, Stefanie
ORCID: 0000-0003-1057-465X, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Bruestle, Oliver, Klopstock, Thomas, Mathews, Katherine D., Shy, Michael E., de Jonghe, Peter, Chinnery, Patrick F., Horvath, Rita
ORCID: 0000-0002-9841-170X, Kohlhase, Juergen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schoels, Ludger, Nuernberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo
ORCID: 0000-0003-4991-763X and Schuele, Rebecca
(2017).
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain, 140.
S. 1561 - 1579.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156