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Kaiyrzhanov, Rauan; Ortigoza-Escobar, Juan Dario; Stringer, Brett W.; Ganieva, Manizha; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Macaya, Alfons; Laner, Andreas; Onbool, Enas; Al-Shammari, Randa; Al-Owain, Mohammed; Deconinck, Nicolas; Vilain, Catheline; Dontaine, Pauline; Self, Eleanor; Akram, Rabia; Hussain, Ghulam; Baig, Shahid Mahmood; Iqbal, Javed; Salpietro, Vincenzo; Neshatdoust, Maedeh; Kasiri, Mahboubeh; Yesil, Gozde; Uygur, Turkan; Pysden, Karen; Berry, Ian R.; Alves, Cesar Augusto; Giacomotto, Jean; Houlden, Henry; Maroofian, Reza Share Save A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel VariantsKilic, Mehmet Akif; Yildiz, Edibe Pembegul; Deniz, Adnan; Coskun, Orhan; Kurekci, Fulya; Avci, Ridvan; Genc, Hulya Maras; Yesil, Gozde; Akbas, Sinan; Yesilyurt, Ahmet; Kara, Bulent Share Save HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataDu, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R. Share Save TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsAlmousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C. Share Save Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAccogli, Andrea; Zaki, Maha S.; Al-Owain, Mohammed; Otaif, Mansour Y.; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E.; De Goede, Christian G. E. L.; Cora, Tulun; Alvi, Javeria Raza; Eslahi, Atieh; Mohajeri, Mahsa Sadat Asl; Ashtiani, Setareh; Au, P. Y. Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H.; Yesil, Gozde; Rosenfeld, Jill Anne; Turkyilmaz, Ayberk; Sager, Safiye Gunes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S.; Issa, Mahmoud Y.; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H.; Gleeson, Joseph G.; Striano, Pasquale; Houlden, Henry; Genomics England Res Consortium, Mariasavina; Severino, Mariasavina; Maroofian, Reza Share Save Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersMaroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina Share Save Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsSaida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi Share Save Phenotypic continuum of NFU1-related disordersKaiyrzhanov, Rauan; Zaki, Maha S.; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gozde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gulacar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Genevieve; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M.; Abdel-Hamid, Mohamed S.; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M.; Brown, Garry; Taylor, Robert W.; Galehdari, Hamid; Gleeson, Joseph J.; Carroll, Christopher J.; Cowan, James A.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza Share Save Share Save Share Save Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variantsTuysuz, Beyhan; Elkanova, Leyla; Alkaya, Dilek Uludag; Gulec, Cagri; Toksoy, Guven; Gunes, Nilay; Yazan, Hakan; Bayhan, A. Ilhan; Yildirim, Timur; Yesil, Gozde; Uyguner, Z. Oya Share Save High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationMitani, Tadahiro; Isikay, Sedat; Gezdirici, Alper; Gulec, Elif Yilmaz; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gulsen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tulay; Yesil, Gozde; Aydin, Hatip; Geckinli, Bilgen; Elcioglu, Nursel; Candan, Sukru; Sezer, Ozlem; Erdem, Haktan Bagis; Gul, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbas, Osman; Kilic, Betul; Gungor, Serdal; Ceylan, Ahmet C.; Bozdogan, Sevcan; Ozalp, Ozge; Cicek, Salih; Aslan, Huseyin; Yalcintepe, Sinem; Topcu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Akdemir, Zeynep Coban; Karaca, Ender; Carvalho, Claudia M. B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut Share Save Share Save Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyKolukisa, Burcu; Baser, Dilek; Akcam, Bengu; Danielson, Jeffrey; Eltan, Sevgi Bilgic; Haliloglu, Yesim; Sefer, Asena Pinar; Babayeva, Royale; Akgun, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Demirkol, Yasemin Kendir; Zhang, Yu; Gonzaga-Jauregui, Claudia; Heredia, Raul Jimenez; Kasap, Nurhan; Kiykim, Ayca; Yucel, Esra Ozek; Gok, Veysel; Unal, Ekrem; Kisaarslan, Aysenur Pac; Nepesov, Serdar; Baysoy, Gokhan; Onal, Zerrin; Yesil, Gozde; Celkan, Tulin Tiraje; Cokugras, Haluk; Camcioglu, Yildiz; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoc-Aydiner, Elif; Su, Helen C.; Ozen, Ahmet; Chatila, Talal A.; Baris, Safa Share Save Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiencyShafer, Samantha; Yao, Yikun; Comrie, William; Cook, Sarah; Zhang, Yu; Yesil, Gozde; Karakoc-Aydiner, Elif; Baris, Safa; Cokugras, Haluk; Aydemir, Sezin; Kiykim, Ayca; Ozen, Ahmet; Lenardo, Michael Share Save Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined CohortBaris, Hatice Ezgi; Ogulur, Ismail; Akcam, Bengu; Kiykim, Ayca; Karagoz, Dilek; Saraymen, Berkay; Akgun, Gamze; Eltan, Sevgi Bilgic; Aydemir, Sezin; Akidagi, Zeynep; Bentli, Esma; Nain, Ercan; Kasap, Nurhan; Baser, Dilek; Altintas, Derya Ufuk; Camcioglu, Yildiz; Yesil, Gozde; Ozen, Ahmet; Koker, Mustafa Yavuz; Karakoc-Aydiner, Elif; Baris, Safa Share Save 
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