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Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism Hengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis Share Save
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity Bertoli-Avella, Aida M.; Ganoza, Christian A.; Ferreira, Mariana; Najafi, Maryam; Polla, Daniel L.; Kandaswamy, Krishna; Tripolszki, Kornelia; Bauer, Peter; Basto, Jorge Pinto Share Save
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature Ramakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A Share Save
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting Bertoli-Avella, Aida M.; Radefeldt, Mandy; Al-Ali, Ruslan; Pardo, Luba M.; Lemke, Sabrina; Leubauer, Anika; Polla, Daniel L.; Hoernicke, Rebecca; Almeida, Ligia S.; Kandaswamy, Krishna Kumar; Beetz, Christian; Basto, Jorge Pinto; Bauer, Peter Share Save
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants Roesner, Sabine; Pardo, Luba M.; Bertoli-Avella, Aida M.; Skrahina, Volha; Engel, Pierre; Schroeder, Sabine; Zielske, Susan; Bonke, Valerie; Kreth, Janett; Westphal, Gina; Reder, Felix; Skobalj, Snezana; Zielke, Susanne; Bogdanovic, Xenia; Grieger, Paula; Rennecke, Joerg; Skripuletz, Thomas; Patten, Monica; Assmus, Birgit; Hahn, Katrin; Rolfs, Arndt; Bauer, Peter Share Save
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease Molitor, Anne; Lederle, Alexandre; Radosavljevic, Mirjana; Sapuru, Vinay; Zavorka Thomas, Megan E.; Yang, Jianying; Shirin, Mahsa; Collin-Bund, Virginie; Jerabkova-Roda, Katerina; Miao, Zhichao; Bernard, Alice; Rolli, Veronique; Grenot, Pierre; Castro, Carla Noemi; Rosenzwajg, Michelle; Lewis, Elyssa G.; Person, Richard; Esperon-Moldes, Uxia-Saraiva; Kaare, Milja; Nokelainen, Pekka T.; Batzir, Nurit Assia; Hoffer, Gal Zaks; Paul, Nicodeme; Stemmelen, Tristan; Naegely, Lydie; Hanauer, Antoine; Bibi-Triki, Sabrina; Gruen, Sarah; Jung, Sophie; Busnelli, Ignacio; Tripolszki, Kornelia; Al-Ali, Ruslan; Ordonez, Natalia; Bauer, Peter; Song, Eunkyung; Zajo, Kristin; Partida-Sanchez, Santiago; Robledo-Avila, Frank; Kumanovics, Attila; Louzoun, Yoram; Hirschler, Aurelie; Pichot, Angelique; Toker, Ori; Mejia, Cesar Andres Munoz; Parvaneh, Nima; Knapp, Esther; Hersh, Joseph H.; Kenney, Heather; Delmonte, Ottavia M.; Notarangelo, Luigi D.; Goetz, Jacky G.; Kahwash, Samir B.; Carapito, Christine; Bajwa, Rajinder P. S.; Thomas, Caroline; Ehl, Stephan; Isidor, Bertrand; Carapito, Raphael; Abraham, Roshini S.; Hite, Richard K.; Marcus, Nufar; Bertoli-Avella, Aida; Bahram, Seiamak Share Save
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 Iruzubieta, Pablo; Alves, Cesar Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; Elghazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P. H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Cakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schoels, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla Garcia; Babaei, Meisam; Bauer, Peter; Jeong, Won Chan; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza Share Save
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy Weber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten Share Save
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia Nakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, Shinji Share Save
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases Velasco, Harvy Mauricio; Bertoli-Avella, Aida; Jaramillo, Carolina Jaramillo; Cardona, Danny Styvens; Gonzalez, Leonel Andres; Vanegas, Melisa Naranjo; Arango, Juan Pablo Valencia; Buitrago, Cesar Augusto; Gonzalez, Jorge Alberto Gutierrez; Marcello, Jonas; Bauer, Peter; Moncada, Juliana Espinosa Share Save
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders Ortigoza-Escobar, Juan Dario; 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, Nuria; 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; Stromme, Petter; Efthymiou, Stephanie; Alkuraya, Fowzan S.; Moreno-De-Luca, Andres; Burglen, Lydie; Houlden, Henry; Maroofian, Reza Share Save
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease Kishore, Asha; Sturm, Marc; Pillai, Kanchana Soman; Hakkaart, Christopher; Puthanveedu, Divya Kalikavil; Urulangodi, Madhusoodanan; Krishnan, Syam; Sreelatha, Ashwin Ashok Kumar; Rajan, Roopa; Pal, Pramod Kumar; Yadav, Ravi; Sarma, Gangadhara; Casadei, Nicolas; Gasser, Thomas; Bauer, Peter; Riess, Olaf; Sharma, Manu Share Save
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity Maroofian, Reza; Sarraf, Payam; O'Brien, Thomas J.; Kamel, Mona; Cakar, Arman; Elkhateeb, Nour; Lau, Tracy; Patil, Siddaramappa Jagdish; Record, Christopher J.; Horga, Alejandro; Essid, Miriam; Selim, Laila; Benrhouma, Hanene; Ben Younes, Thouraya; Zifarelli, Giovanni; Pagnamenta, Alistair T.; Bauer, Peter; Khundadze, Mukhran; Mirecki, Andrea; Kamel, Sara Mahmoud; Elmonem, Mohamed A.; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Offiah, Amaka C.; Rossor, Alexander M.; Ben Youssef-Turki, Ilhem; Huebner, Christian A.; Munot, Pinki; Reilly, Mary M.; Brown, Andre E. X.; Nagy, Sara; Houlden, Henry Share Save
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry Share Save
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