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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions Westenberger, Ana; Ruiz-Herrera, Adriana; Bozdogan, Sevcan; Bisgin, Atil; Almuqbil, Mohammed; Alhashem, Amal; Alanzi, Talal; Romito, Antonio; Rolfs, Arndt; Dias, Patricia; Silva, Raquel Gouveia; Bertoli-Avella, Aida M.; Bauer, Peter; Beetz, Christian Share Save
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia Kiraz, Aslihan; Sezer, Ozlem; Alemdar, Adem; Canbek, Sezin; Duman, Nilgun; Bisgin, Atil; Cora, Tulin; Ruhi, Hatice Ilgin; Ergoren, Mahmut Cerkez; Geckinli, Bilgen Bilge; Sag, Sebnem Ozemri; Gozden, Hilmi Erdem; Oz, Ozlem; Altintas, Zuhal Mert; Yalcintepe, Sinem; Keskin, Adem; Tak, Ayseguel Yabaci; Paskal, Seyma Aktas; Yurekli, Ugur Fahri; Demirtas, Mercan; Evren, Emine Unal; Hanta, Abdullah; Basdemirci, Mueserref; Suer, Kaya; Balta, Burhan; Kocak, Nadir; Karabulut, Halil Guerhan; Cobanogullari, Havva; Ates, Esra Arslan; Bozdogan, Sevcan Tug; Eker, Damla; Ekinci, Sadiye; Nergiz, Sueleyman; Tuncali, Timur; Yagbasan, Serap; Alavanda, Ceren; Kutlay, Nuket Yurur; Evren, Hakan; Erdogan, Murat; Altiner, Sule; Sanlidag, Tamer; Gonen, Gizem Akinci; Vicdan, Arzu; Eras, Nazan; Eker, Hatice Kocak; Balasar, Ozgur; Tuncel, Gulten; Dundar, Munis; Gurkan, Hakan; Temel, Sehime Gulsun Share Save
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Duan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Kocak; Costa, Silvia R.; Sahin, Yavuz; Ocak, Zeynep; Isikay, Sedat; Ozalp, Ozge; Bozdogan, Sevcan; Aslan, Huseyin; Elcioglu, Nursel; Bertola, Debora R.; Gezdirici, Alper; Du, Haowei; Fatih, Jawid M.; Grochowski, Christopher M.; Akay, Gulsen; Jhangiani, Shalini N.; Karaca, Ender; Gu, Shen; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Bayram, Yavuz; Sutton, V. Reid; Carvalho, Claudia M. B.; Pehlivan, Davut; Gibbs, Richard A.; Lupski, James R. Share Save
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey Bisgin, Atil; Sag, Sebnem Ozemri; Dogan, Muhammet E.; Yildirim, Mahmut S.; Gumus, Aydeniz Aydin; Akkus, Nejmiye; Balasar, Ozgur; Durmaz, Ceren D.; Eroz, Recep; Altiner, Sule; Alemdar, Adem; Aliyeva, Lamia; Boga, Ibrahim; Cam, Fethi S.; Dorgan, Berkcan; Esbah, Onur; Hanta, Abdullah; Mujde, Cem; Ornek, Cemre; Ozer, Sinem; Rencuzogullari, Cagla; Sonmezler, Ozge; Bozdogan, Sevcan Tug; Dundar, Munis; Temel, Sehime G. Share Save
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Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population Duman, Nilgun; Tuncel, Gulten; Bisgin, Atil; Bozdogan, Sevcan Tug; Sag, Sebnem Ozemri; Gul, Seref; Kiraz, Aslihan; Balta, Burhan; Erdogan, Murat; Uyanik, Bulent; Canbek, Sezin; Ata, Pinar; Geckinli, Bilgen Bilge; Ates, Esra Arslan; Alavanda, Ceren; Ozdemir, Sevda Yesim; Sezer, Ozlem; Ozgon, Gulay Oner; Gurkan, Hakan; Guler, Kubra; Boga, Ibrahim; Kaya, Niyazi; Alemdar, Adem; Sayan, Murat; Dundar, Munis; Ergoren, Mahmut Cerkez; Temel, Sehime Gulsun Share Save
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 Share Save
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger Share Save
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Akdemir, Zeynep Coban; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K. Y.; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, Rene; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J.; Wilichowski, Ekkehard; Wortmann, Saskia B.; Casella, Erasmo B.; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M.; Bamshad, Michael; Gibbs, Richard A.; Sutton, V. Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B.; Glass, Ian; Lessel, Davor; Lyon, Gholson J.; Lupski, James R. Share Save
Phenotypic expansion illuminates multilocus pathogenic variation Karaca, Ender; Posey, Jennifer E.; Akdemir, Zeynep Coban; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini N.; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; Yesil, Gozde; Isikay, Sedat; Muzny, Donna; Gibbs, Richard A.; Lupski, James R. Share Save
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis Fenwick, Aimee L.; Kliszczak, Maciej; Cooper, Fay; Murray, Jennie; Sanchez-Pulido, Luis; Twigg, Stephen R. F.; Goriely, Anne; McGowan, Simon J.; Miller, Kerry A.; Taylor, Indira B.; Logan, Clare; Bozdogan, Sevcan; Danda, Sumita; Dixon, Joanne; Elsayed, Solaf M.; Elsobky, Ezzat; Gardham, Alice; Hoffer, Mariette J. V.; Koopmans, Marije; McDonald-McGinn, Donna M.; Santen, Gijs W. E.; Savarirayan, Ravi; de Silva, Deepthi; Vanakker, Olivier; Wall, Steven A.; Wilson, Louise C.; Yuregir, Ozge Ozalp; Zackai, Elaine H.; Ponting, Chris P.; Jackson, Andrew P.; Wilkie, Andrew O. M.; Niedzwiedz, Wojciech; Bicknell, Louise S. Share Save
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Bayram, Yavuz; Karaca, Ender; Akdemir, Zeynep Coban; Yilmaz, Elif Ozdamar; Tayfun, Gulsen Akay; Aydin, Hatip; Torun, Deniz; Bozdogan, Sevcan Tug; Gezdirici, Alper; Isikay, Sedat; Atilt, Mehmed M.; Gambin, Tomasz; Harel, Tamar; El-Hattab, Ayman W.; Charng, Wu-Lin; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Karaman, Ali; Celik, Tamer; Yuregir, Ozge Ozaip; Yildirim, Timur; Bayhan, Ilhan A.; Boerwinkle, Eric; Gibbs, Richard A.; Elcioglu, Nurse; Tuysuz, Beyhan; Lupski, James R. Share Save
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Coban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; Yuregir, Ozge O.; Bozdogan, Sevcan Tug; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C.; Jain, Preti; Geckinli, B. Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Gulec, Elif Yilmaz; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Aktas, Dilek; Alikasifoglu, Mehmet; Ture, Mehmet; Yakut, Tahsin; Overton, John D.; Yuksel, Adnan; Ozen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R. Share Save
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Ha Lid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R. Share Save
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