A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

Authors: Scorrano, Giovanna, D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Buchert, Rebecca, Kotzaeridou, Urania, Iapadre, Giulia, Farello, Giovanni, Iacomino, Michele, Dono, Fedele, Di Francesco, Ludovica, Fiorile, Maria Francesca, La Bella, Saverio, Corsello, Antonio, Calì, Elisa, Di Rosa, Gabriella, Gitto, Eloisa, Verrotti, Alberto, Fortuna, Sara, Soler, Miguel A., Chiarelli, Francesco, Oehl-Jaschkowitz, Barbara, Haack, Tobias B., Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo

Source: In Pediatric Neurology December 2023 149:84-92

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Authors: Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias

Source: American journal of human genetics. 109(9):1713-1723

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Authors: Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs

Source: American journal of human genetics. 109(4):750-758

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161232052.0x000001&indx=1&recIds=ETOCvdc_100161232052.0x000001

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Authors: Gangfuß, Andrea, Goj, Guido, Polz, Silke, Della Marina, Adela, Hentschel, Andreas, Ahlbory, Katja, Deba, Timo, Kotzaeridou, Urania, Schuler, Elisabeth, Pechmann, Astrid, Diebold, Uta, Kurlemann, Gerhard, Heinzkyll, Lucas, Schmitt, Dirk, Rostasy, Kevin, Ruck, Tobias, Böhm, Johann, Roos, Andreas, Schara-Schmidt, Ulrike

Source: Journal of Neurology; Jan2025, Vol. 272 Issue 1, p1-11, 11p

Expanded phenotype of AARS1-related white matter disease

Authors: Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.

Source: In Genetics in Medicine December 2021 23(12):2352-2359

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Authors: den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

Source: American journal of human genetics. 108(2):346-356

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135343931.0x000001&indx=1&recIds=ETOCvdc_100135343931.0x000001

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Authors: Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias

Source: Clinical genetics. 100(1):14-28

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123024769.0x000001&indx=1&recIds=ETOCvdc_100123024769.0x000001

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Authors: Itai, Toshiyuki, Hamanaka, Kohei, Sasaki, Kazunori, Wagner, Matias, Kotzaeridou, Urania, Brösse, Ines, Ries, Markus, Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Ong, Winnie P., Chew, Hui B., Rethanavelu, Kavitha, Ranza, Emmanuelle, Blanc, Xavier, Uchiyama, Yuri, Tsuchida, Naomi, Fujita, Atsushi, Azuma, Yoshiteru, Koshimizu, Eriko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Takahashi, Hidehisa, Miyagi, Etsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Taguri, Masataka, Antonarakis, Stylianos E., Nakashima, Mitsuko, Saitsu, Hirotomo, Miyatake, Satoko, Matsumoto, Naomichi

Source: Human mutation. 42(1):66-76

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114137379.0x000001&indx=1&recIds=ETOCvdc_100114137379.0x000001

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Authors: Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

Source: American journal of human genetics. 108(10):2006-2016

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163609477.0x000001&indx=1&recIds=ETOCvdc_100163609477.0x000001

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Authors: Lenz, Dominic, Smith, Desirée E.C., Crushell, Ellen, Husain, Ralf A., Salomons, Gajja S., Alhaddad, Bader, Bernstein, Jonathan A., Bianzano, Alyssa, Biskup, Saskia, Brennenstuhl, Heiko, Caldari, Dominique, Dikow, Nicola, Haack, Tobias B., Hanson-Kahn, Andrea, Harting, Inga, Horn, Denise, Hughes, Joanne, Huijberts, Maya, Isidor, Bertrand, Kathemann, Simone, Kopajtich, Robert, Kotzaeridou, Urania, Küry, Sébastien, Lainka, Elke, Laugwitz, Lucia, Lupski, James R., Posey, Jennifer E., Reynolds, Claire, Rosenfeld, Jill A., Schröter, Julian, Vansenne, Fleur, Wagner, Matias, Weiß, Claudia, Wolffenbuttel, Bruce H.R., Wortmann, Saskia B., Kölker, Stefan, Hoffmann, Georg F., Prokisch, Holger, Mendes, Marisa I., Staufner, Christian

Source: In Genetics in Medicine November 2020 22(11):1863-1873

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Authors: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève

Source: Journal of clinical endocrinology & metabolism. 106(2):e660-e674

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100142844046.0x000001&indx=1&recIds=ETOCvdc_100142844046.0x000001

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Authors: Kotzaeridou, Urania, Young‐Baird, Sara K., Suckow, Vanessa, Thornburg, Alexis G., Wagner, Matias, Harting, Inga, Christ, Stine, Strom, Tim, Dever, Thomas E., Kalscheuer, Vera M.

Source: Clinical genetics. 98(5):507-514

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116925609.0x000001&indx=1&recIds=ETOCvdc_100116925609.0x000001

MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration.

Authors: Hammann, Nicole, Lenz, Dominic, Bianzano, Alyssa, Husain, Ralf A., Forman, Eva, Bernstein, Jonathan A., Dattner, Tal, Engelen, Marc, Hanson‐Kahn, Andrea K., Isidor, Bertrand, Kotzaeridou, Urania, Tietze, Anna, Trollmann, Regina, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Kölker, Stefan, Hoffmann, Georg F., Crushell, Ellen, Staufner, Christian, Mohr, Alexander

Source: Journal of Inherited Metabolic Disease; Sep2024, Vol. 47 Issue 5, p1028-1046, 19p

SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Authors: Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E., Ranucci, Giusy, Thiel, Christian, Straub, Beate K., Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W., Kuloğlu, Zarife, Blakely, Emma L., Taylor, Robert W., Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Haack, Tobias B., Staufner, Christian

Source: In Genetics in Medicine October 2018 20(10):1255-1265

The genotypic and phenotypic spectrum of MTO1 deficiency

Authors: O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.

Source: In Molecular Genetics and Metabolism January 2018 123(1):28-42

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Authors: Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, Wagner, Matias

Source: Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

Authors: Evers, Christina, Staufner, Christian, Granzow, Martin, Paramasivam, Nagarajan, Hinderhofer, Katrin, Kaufmann, Lilian, Fischer, Christine, Thiel, Christian, Opladen, Thomas, Kotzaeridou, Urania, Wiemann, Stefan, Schlesner, Matthias, Eils, Roland, Kölker, Stefan, Bartram, Claus R., Hoffmann, Georg F., Moog, Ute

Source: In Molecular Genetics and Metabolism August 2017 121(4):297-307

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Authors: Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg, Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard, Safiulina, Dzhamilja, Strom, Tim, Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias, Õunap, Katrin

Source: European journal of human genetics. 26(3):407-419

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103877640.0x000001&indx=1&recIds=ETOCvdc_100103877640.0x000001

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Authors: Haack, Tobias B., Gorza, Matteo, Danhauser, Katharina, Mayr, Johannes A., Haberberger, Birgit, Wieland, Thomas, Kremer, Laura, Strecker, Valentina, Graf, Elisabeth, Memari, Yasin, Ahting, Uwe, Kopajtich, Robert, Wortmann, Saskia B., Rodenburg, Richard J., Kotzaeridou, Urania, Hoffmann, Georg F., Sperl, Wolfgang, Wittig, Ilka, Wilichowski, Ekkehard, Schottmann, Gudrun, Schuelke, Markus, Plecko, Barbara, Stephani, Ulrich, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Freisinger, Peter

Source: In Molecular Genetics and Metabolism March 2014 111(3):342-352

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Authors: Kopajtich, Robert, Murayama, Kei, Janecke, Andreas R., Haack, Tobias B., Breuer, Maximilian, Knisely, A.S., Harting, Inga, Ohashi, Toya, Okazaki, Yasushi, Watanabe, Daisaku, Tokuzawa, Yoshimi, Kotzaeridou, Urania, Kölker, Stefan, Sauer, Sven, Carl, Matthias, Straub, Simon, Entenmann, Andreas, Gizewski, Elke, Feichtinger, René G., Mayr, Johannes A., Lackner, Karoline, Strom, Tim M., Meitinger, Thomas, Müller, Thomas, Ohtake, Akira, Hoffmann, Georg F., Prokisch, Holger, Staufner, Christian

Source: American journal of human genetics. 99(2):414-422

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