Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly von Link, Nichole, Chung, Hyunglok, Jolly, Angad, Withers, Marjorie, Tepe, Burak, Arenkiel, Benjamin R., Shah, Priya S., Krogan, Nevan J., Aydin, Hatip, Geckinli, Bilgen B., Tos, Tulay, Isikay, Sedat, Tuysuz, Beyhan, Mochida, Ganesh H., Thomas, Ajay X., Clark, Robin D., Mirzaa, Ghayda M., Lupski, James R., Bellen, Hugo J.

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Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome von Alavanda, Ceren, Arslan Ateş, Esra, Yavaş Abalı, Zehra, Geçkinli, Bilgen Bilge, Turan, Serap, Arman, Ahmet

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Secondary findings in 622 Turkish clinical exome sequencing data von Ates, Esra Arslan, Turkyilmaz, Ayberk, Yildirim, Ozlem, Alavanda, Ceren, Polat, Hamza, Demir, Senol, Cebi, Alper Han, Geckinli, Bilgen Bilge, Guney, Ahmet Ilter, Ata, Pinar, Arman, Ahmet

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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 von 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, Arslan Ates, Esra, Alavanda, Ceren, Yesim Ozdemir, Sevda, 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

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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency von Turkyilmaz, Ayberk, Alavanda, Ceren, Ates, Esra Arslan, Geckinli, Bilgen Bilge, Polat, Hamza, Gokcu, Mehmet, Karakaya, Taner, Cebi, Alper Han, Soylemez, Mehmet Ali, Guney, Ahmet İlter, Ata, Pinar, Arman, Ahmet

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Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family von Ateş, Esra Arslan, Turkyilmaz, Ayberk, Delil, Kenan, Alavanda, Ceren, Söylemez, Mehmet Ali, Geçkinli, Bilgen Bilge, Ata, Pinar, Arman, Ahmet

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A case of Carvajal syndrome presenting with dilated cardiomyopathy von Arıcı, Sule, Akalın, Figen, Geckinli, Bilgen Bilge

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Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects von Kaygusuz, Sare Betul, Ates, Esra Arslan, Vignola, Maria Lillina, Volkan, Burcu, Geckinli, Bilgen Bilge, Turan, Serap, Bereket, Abdullah, Gaston-Massuet, Carles, Guran, Tulay

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von 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

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Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects von Kaygusuz, Sare Betul, Ates, Esra Arslan, Vignola, Maria Lillina, Volkan, Burcu, Geckinli, Bilgen Bilge, Turan, Serap, Bereket, Abdullah, Gaston-Massuet, Carles, Guran, Tulay

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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia von Kiraz, Aslıhan, Sezer, Ozlem, Alemdar, Adem, Canbek, Sezin, Duman, Nilgun, Bisgin, Atıl, Cora, Tulin, Ruhi, Hatice Ilgın, Ergoren, Mahmut Cerkez, Geçkinli, Bilgen Bilge, Sag, Sebnem Ozemri, Gözden, Hilmi Erdem, Oz, Ozlem, Altıntaş, Zuhal Mert, Yalcıntepe, Sinem, Keskin, Adem, Tak, Ayşegül Yabacı, Paskal, Şeyma Aktaş, Yürekli, Uğur Fahri, Demirtas, Mercan, Evren, Emine Unal, Hanta, Abdullah, Başdemirci, Müşerref, Suer, Kaya, Balta, Burhan, Kocak, Nadir, Karabulut, Halil Gürhan, Cobanogulları, Havva, Ateş, Esra Arslan, Bozdoğan, Sevcan Tuğ, Eker, Damla, Ekinci, Sadiye, Nergiz, Süleyman, Tuncalı, Timur, Yagbasan, Serap, Alavanda, Ceren, Kutlay, Nuket Yurur, Evren, Hakan, Erdoğan, Murat, Altıner, Sule, Sanlidag, Tamer, Gonen, Gizem Akıncı, Vicdan, Arzu, Eras, Nazan, Eker, Hatice Koçak, Balasar, Ozgür, Tuncel, Gulten, Dundar, Munis, Gurkan, Hakan, Temel, Sehime Gulsun

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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature von Turkyilmaz, Ayberk, Geckinli, Bilgen Bilge, Alavanda, Ceren, Ates, Esra Arslan, Buyukbayrak, Esra Esim, Eren, Sirin Funda, Arman, Ahmet

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly von Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.

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OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses von Terzioğlu, Muhammet, Türkdoğan, Dilşad, Genç, Emine, Gümüş, Emel Yılmaz, Öztürk, Gülten, Demir, Şenol, Geçkinli, Bilgen Bilge, Yaya, Enver, Hişmi, Burcu, Kılavuz, Sebile

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Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis von Kalkan, Semih, Ozan Gürsoy, M., Güner, Ahmet, Gürsoy, Semra, Kalçık, Macit, Geçkinli, Bilge Bilgen, Delil, Kenan, Ateş, Esra Arslan, Erdogan, Eylem Gokmeydan, Canbek, Sezin, Bayam, Emrah, Aykan, A. Çağrı, Aytürk, Mehmet, Gündüz, Sabahattin, Özkan, Mehmet

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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome von Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome von Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium von Yildiz, Saliha Handan, Akin, Haluk, Artan, Sevilhan, Sahin, Feride Iffet, Bisgin, Atil, Ozdemir, Ozturk, Bagis, Haydar, Yuce, Huseyin, Duman, Nilgun, Bozkurt, Gokay, Mihci, Ercan, Altintas, Zuhal Mert, Tatar, Abdulgani, Ergoren, Mahmut Cerkez, Altunoglu, Umut, Caglayan, Ahmet Okay, Yuksel, Berrin, Ozkul, Yusuf, Saatci, Cetin, Kenanoglu, Sercan, Karasu, Nilgun, Dundar, Bilge, Ozcelik, Firat, Siniksaran, Betul Seyhan, Kulak, Hande, Kazimli, Ulviyya, Dundar, Ayca, Bayram, Arslan, Subasioglu, Asli, Karaduman, Neslihan, Kandemir, Nefise, Emekli, Rabia, Sahin, Izem Olcay, Ozdemir, Sevda Yesim, Onal, Muge Gulcihan, Gursoy, Sebnem, Calis, Mustafa, Demir, Huseyin, Zararsiz, Gozde Erturk, Erdogan, Mujgan Ozdemir, Elmas, Muhsin, Solak, Mustafa, Thahir, Adam, Aydin, Zafer, Atasever, Umut, Sag, Sebnem Ozemri, Aliyeva, Lamiya, Dogan, Berkcan, Erguzeloglu, Cemre Ornek, Cogulu, Ozgur, Durmaz, Burak, Aykut, Ayca, Cilingir, Oguz, Aras, Beyhan Durak, Gokalp, Ebru Erzurumluoglu, Arslan, Serap, Haziyeva, Konul, Bas, Hasan, Sarac, Elif, Kocak, Nadir, Nergiz, Suleyman, Terzi, Yunus Kasim, Dincer, Selin Akad, Genc, Gunes Cakmak, Bahadir, Oguzhan, Yalcintepe, Sinem, Kiraz, Aslihan, Balta, Burhan, Ceylan, Gulay Gulec, Erten, Sukran, Bozdogan, Sevcan Tug, Boga, Ibrahim, Yilmaz, Mustafa, Kocabey, Mehmet, Bozkaya, Ozlem Giray, Ercal, Derya, Ergun, Sezen Guntekin, Duman, Yesim Sidar, Beyazit, Serife Busra, Uzel, Veysiye Hulya, Cevik, Muhammer Ozgur, Eroz, Recep, Demirtas, Mercan, Kabayegit, Zehra Manav, Altan, Mustafa, Geckinli, Bilgen Bilge, Ates, Esra Arslan, Toylu, Asli, Bayramicli, Oya Uygur, Emmungil, Hakan, Komesli, Zeynep, Zeybel, Mujdat, Gurakan, Figen, Karabulut, Halil Gurhan, Tuncali, Timur, Onder, Nerin Bahceciler, Tulay, Pinar, Tosun, Ozgur, Kale, Hamdi, Erdem, Levent

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Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family von Ateş, Esra Arslan, Turkyilmaz, Ayberk, Delil, Kenan, Alavanda, Ceren, Söylemez, Mehmet Ali, Geçkinli, Bilgen Bilge, Ata, Pinar, Arman, Ahmet

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Supplementary Figure 2 von Kaygusuz, Sare Betul, Ates, Esra Arslan, Vignola, Maria Lillina, Volkan, Burcu, Geckinli, Bilgen Bilge, Turan, Serap, Bereket, Abdullah, Gaston-Massuet, Carles, Tulay Guran

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