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Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants RASopathy患者的分子与临床特征：靶向下一代测序面板结果及14个新型致病变异的鉴定 Ates, Kubra; Ozturk, Murat; Esener, Zeynep; Dogan, Mustafa; Gezdirici, Alper; Sarac, Hatice; Yeninarcilar, Busra; Fettahlioglu, Alperen; Camtosun, Emine; Dundar, Ismail; Gungor, Serdal; Ozgor, Bilge; Tekedereli, Ibrahim 分享 收藏
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications n末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化 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 分享 收藏
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage Lecca, Mauro; Pehlivan, Davut; Suner, Damia Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contro, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, Maria Angeles; Bauza, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anais; Unger, Sheila; Gungor, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmueller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R.; Errichiello, Edoardo 分享 收藏
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Kurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita 分享 收藏
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss SPATA5L1中的双等位基因变体导致智力障碍，痉挛性肌张力障碍性脑瘫，癫痫和听力损失 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; ManuelaMorleo; 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 Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; 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.; Mac Lennan, 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.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C. 分享 收藏
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Mitani, 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 分享 收藏
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families Oktay, Yavuz; Gungor, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Topf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmueller, Hanns; Schuele, Rebecca; Horvath, Rita 分享 收藏
y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children Yaramis, Ahmet; Lochmueller, Hanns; Topf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz 分享 收藏
Severe neurodevelopmental disease caused by a homozygous TLK2 variant Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Gungor, Serdal; Lochmueller, Hanns; Hiz, Semra; Horvath, Rita 分享 收藏
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