Severe neurodevelopmental disease caused by a homozygous TLK2 variant by Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G, Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita

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Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort by Sönmezler, Ece, Stuani, Cristiana, Hız Kurul, Semra, Güngör, Serdal, Buratti, Emanuele, Oktay, Yavuz

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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease by Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome by Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S, Sonmezler, Ece, Macken, William L, Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J, Patel, Nina, Pope, Simon A S, Heales, Simon J R, Hammadi, Dania B H, Alston, Charlotte L, Taylor, Robert W, Lochmuller, Hanns, Woodward, Cathy E, Labrum, Robyn, Vandrovcova, Jana, Houlden, Henry, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G, Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S, Horvath, Rita, Prudent, Julien, Pitceathly, Robert D S

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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases by Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita

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Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome by Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S., Sonmezler, Ece, Macken, William L., Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J., Pope, Simon A.S., Heales, Simon J.R., Hammadi, Dania B.H., Alston, Charlotte L., Taylor, Robert W., Lochmuller, Hanns, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G., Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S., Horvath, Rita, Prudent, Julien, Pitceathly, Robert D.S.

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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage by Lecca, Mauro, Pehlivan, Davut, Suñer, Damià Heine, Weiss, Karin, Coste, Thibault, Zweier, Markus, Oktay, Yavuz, Danial-Farran, Nada, Rosti, Vittorio, Bonasoni, Maria Paola, Malara, Alessandro, Contrò, 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, María Angeles, Bauzá, Cristofol Vives, Ben-Sira, Liat, Sigaudy, Sabine, Begemann, Anaïs, Unger, Sheila, Güngör, Serdal, Hiz, Semra, Sonmezler, Ece, Zehavi, Yoav, Jerdev, Michael, Balduini, Alessandra, Zuffardi, Orsetta, Horvath, Rita, Lochmüller, Hanns, Rauch, Anita, Garavelli, Livia, Tournier-Lasserve, Elisabeth, Spiegel, Ronen, Lupski, James R., Errichiello, Edoardo

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COL4A1-related autosomal recessive encephalopathy in 2 Turkish children by Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, Aysenur, Horvath, Rita, Oktay, Yavuz

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