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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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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Du, 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. 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
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L. 分享 收藏
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. 分享 收藏
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. 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
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert 分享 收藏
The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Gulec, Elif Yilmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicova, Marketa; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cave, Helene; Zenker, Martin 分享 收藏
Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review of published cases Montenegro-Garreaud, Ximena; Hansen, Adam W.; Khayat, Michael M.; Chander, Varuna; Grochowski, Christopher M.; Jiang, Yunyun; Li, He; Mitani, Tadahiro; Kessler, Elena; Jayaseelan, Joy; Shen, Hua; Gezdirici, Alper; Pehlivan, Davut; Meng, Qingchang; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Madan-Khetarpal, Suneeta; Scott, Daryl A.; Abarca-Barriga, Hugo; Trubnykova, Milana; Gingras, Marie-Claude; Muzny, Donna M.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Gibbs, Richard A. 分享 收藏
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S.; Verloes, Alain; Shillington, Amelle G.; Izumi, Kosuke; Ritter, Alyssa L.; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M.; Bedoukian, Emma; Kukolich, Mary K.; Innes, A. Micheil; Ediae, Grace U.; Sawyer, Sarah L.; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R.; Probst, Frank J.; Bassetti, Jennifer A.; Sutton, Reid, V; Gibbs, Richard A.; Brown, Chester; Boone, Philip M.; Holm, Ingrid A.; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F.; Coubes, Christine; Laquerriere, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Milian S.; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A.; Bosanko, Katherine A.; Dieterich, Klaus; Carey, John C.; Chong, Jessica X.; Nickerson, Deborah A.; Bamshad, Michael J.; Lee, Brendan H.; Yang, Xiang-Jiao; Lupski, James R.; Campeau, Philippe M. 分享 收藏
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