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FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature FBXO22缺乏定义了一种具有生长受限和多系统异常的累及多系统的综合征，其特征是具有独特的表观遗传标志。 Ramakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A 分享 收藏
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ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations Lavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie 分享 收藏
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis Altunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor 分享 收藏
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation Theil, Arjan F.; Pines, Alex; Kalayci, Tugba; Heredia-Genestar, Jose M.; Raams, Anja; Rietveld, Marion H.; Sridharan, Sriram; Tanis, Sabine E. J.; Mulder, Klaas W.; Bueyuekbabani, Nesimi; Karaman, Birsen; Uyguner, Zehra O.; Kayserili, Huelya; Hoeijmakers, Jan H. J.; Lans, Hannes; Demmers, Jeroen A. A.; Pothof, Joris; Altunoglu, Umut; El Ghalbzouri, Abdoelwaheb; Vermeulen, Wim 分享 收藏
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Traspas, Ricardo Moreno; Chia, Poh Hui; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Saribas, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El-Khateeb, Mohammad; Fathallah, Rajaa; Casanova, Jean-Laurent; Soror, Wesam; Arafat, Alaa; Escande-Beillard, Nathalie; Mayer, Andreas; Reversade, Bruno 分享 收藏
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia Iturrate, Asier; Rivera-Barahona, Ana; Flores, Carmen-Lisset; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julian; Tenorio-Castano, Jair; Trivino, Juan Carlos; Garcia-Gonzalo, Francesc R.; Piceci-Sparascio, Francesca; De Luca, Alessandro; Martinez, Leopoldo; Kalayci, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Perez, Victor L. 分享 收藏
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder Paul, Franziska; Ng, Calista; Mohamad Sahari, Umar Bin; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Ali Reza; Bonnard, Carine; Wong, Pui-Mun; Nabavizadeh, Nasrinsadat; Altunoglu, Umut; Estiar, Mehrdad A.; Majoie, Charles B.; Lee, Hane; Nelson, Stanley F.; Gan-Or, Ziv; Rouleau, Guy A.; Van Veldhoven, Paul P.; Massie, Rami; Hennekam, Raoul C.; Kariminejad, Ariana; Reversade, Bruno 分享 收藏
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects (vol 8, 2001100, 2021) Sahni, Geetika; Chang, Shu-Yung; Teo, Jeremy Choon Meng; Tan, Jerome Zu Yao; Fatien, Jean Jacques Clement; Bonnard, Carine; Utami, Kagistia Hana; Chan, Puck Wee; Tan, Thong Teck; Altunoglu, Umut; Kayserili, Hulya; Pouladi, Mahmoud; Reversade, Bruno; Toh, Yi-Chin 分享 收藏
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects 用于模拟基因和药物诱导的神经发育缺陷的微图案化人类特异性神经上皮组织 Sahni, Geetika; Chang, Shu-Yung; Meng, Jeremy Teo Choon; Tan, Jerome Zu Yao; Fatien, Jean Jacques Clement; Bonnard, Carine; Utami, Kagistia Hana; Chan, Puck Wee; Tan, Thong Teck; Altunoglu, Umut; Kayserili, Hulya; Pouladi, Mahmoud; Reversade, Bruno; Toh, Yi-Chin 分享 收藏
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling Bonnard, Carine; Navaratnam, Naveenan; Ghosh, Kakaly; Chan, Puck Wee; Tan, Thong Teck; Pomp, Oz; Ng, Alvin Yu Jin; Tohari, Sumanty; Changede, Rishita; Carling, David; Venkatesh, Byrappa; Altunoglu, Umut; Kayserili, Hulya; Reversade, Bruno 分享 收藏
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 Escande-Beillard, Nathalie; Loh, Abigail; Saleem, Sahar N.; Kanata, Kohei; Hashimoto, Yui; Altunoglu, Umut; Metoska, Artina; Grandjean, Joanes; Ng, Fui Mee; Pomp, Oz; Baburajendran, Nithya; Wong, Joyner; Hill, Jeffrey; Beillard, Emmanuel; Cozzone, Patrick; Zaki, Maha; Kayserili, Hulya; Hamada, Hiroshi; Shiratori, Hidetaka; Reversade, Bruno 分享 收藏
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B Palencia-Campos, Adrian; Martinez-Fernandez, Maria-Luisa; Altunoglu, Umut; Soto-Bielicka, Patricia; Torres, Antonio; Marin, Purificacion; Aller, Elena; Senturk, Leyli; Berkoz, Omer; Yildiran, Mehmet; Kayserili, Hulya; Gil-Camarero, Elena; Colli-Lista, Gloria; Sanchis-Calvo, Amparo; Carretero, Alba; Guillen-Navarro, Encarna; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Maria; Rosell, Jordi; Aglan, Mona S.; Temtamy, Samia; Otaify, Ghada A.; Cuevas-Catalina, Lourdes; Torres-Saavedra, Maria-Nieves; Nevado, Julian; Tenorio, Jair; Lapunzina, Pablo; Bermejo-Sanchez, Eva; Ruiz-Perez, Victor L.; Arroyo-Carrera, Ignacio; Barcia-Ramirez, Ana; Beseler-Soto, Beatriz; Bringue-Espuny, Xavier; Canduela-Martinez, Victor; Climent-Alberola, Salvador; Escribano-Garcia, Carla; Eunide Gourdet, Marie; Foguet-Vidal, Anton; Gallardo-Hernandez, Francisca L.; Jimenez-Ignacio, Francisca; Madero-Lopez, Julian; Marugan-Isabel, Victor; Pangua-Gomez, Maria; Pi-Castan, Graciela; Reyes-Millan, Beatriz; Ruperez-Pena, Sara M.; Zuazo-Zamalloa, Esther 分享 收藏
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay Lee, Sangmoon; Chen, Dillon Y.; Zaki, Maha S.; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M.; Dobyns, William B.; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N.; Mancini, Grazia M. S.; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M. Chiara; Toosi, Mehran Beiraghi; Gleeson, Joseph G. 分享 收藏
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W.; Verbist, Berit; de Brouwer, Arjan P. M.; Padberg, George W.; Pennings, Ronald; Kayserili, Hulya; Kremer, Hannie; Van Camp, Guy; van Bokhoven, Hans 分享 收藏
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics Vandervore, Laura V.; Schot, Rachel; Kasteleijn, Esmee; Oegema, Renske; Stouffs, Katrien; Gheldof, Alexander; Grochowska, Martyna M.; van der Sterre, Marianne L. T.; van Unen, Leontine M. A.; Wilke, Martina; Elfferich, Peter; van der Spek, Peter J.; Heijsman, Daphne; Grandone, Anna; Demmers, Jeroen A. A.; Dekkers, Dick H. W.; Slotman, Johan A.; Kremers, Gert-Jan; Schaaf, Gerben J.; Masius, Roy G.; van Essen, Anton J.; Rump, Patrick; van Haeringen, Arie; Peeters, Els; Altunoglu, Umut; Kalayci, Tugba; Poot, Raymond A.; Dobyns, William B.; Bahi-Buisson, Nadia; Verheijen, Frans W.; Jansen, Anna C.; Mancini, Grazia M. S. 分享 收藏
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Caglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yesil, Gozde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gulhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G.; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam 分享 收藏
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stephane; Ali, Nur'Ain B.; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S. Zakiah A.; van Hul, Noemi; Caldez, Matias J.; Van Maldergem, Lionel; Yigit, Gokhan; Kayserili, Hulya; Youssef, Sameh A.; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmueller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp 分享 收藏
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