Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Published in Cell (21.05.2015)
Published in Cell (21.05.2015)
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Responsible implementation of expanded carrier screening
Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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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, Hülya, Reversade, Bruno
Published in The Journal of experimental medicine (07.12.2020)
Published in The Journal of experimental medicine (07.12.2020)
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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B., Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, Lena, Nayak, Shalini S., Shukla, Anju, Girisha, Katta Mohan, Le Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, Reversade, Bruno
Published in Nature (London) (01.05.2018)
Published in Nature (London) (01.05.2018)
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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, Hülya, Hamada, Hiroshi, Shiratori, Hidetaka, Reversade, Bruno
Published in Neuron (Cambridge, Mass.) (08.07.2020)
Published in Neuron (Cambridge, Mass.) (08.07.2020)
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De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans
Published in Nature communications (12.06.2015)
Published in Nature communications (12.06.2015)
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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Wong, Samantha, Tan, Yu Xuan, Loh, Abigail Yi Ting, Tan, Kiat Yi, Lee, Hane, Aziz, Zainab, Nelson, Stanley F, Özkan, Engin, Kayserili, Hülya, Escande‐Beillard, Nathalie, Reversade, Bruno
Published in EMBO molecular medicine (08.05.2023)
Published in EMBO molecular medicine (08.05.2023)
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Clinical exome sequencing in neuromuscular diseases: an experience from Turkey
Börklü-Yücel, Esra, Demiriz, Çiğdem, Avcı, Şahin, Vanlı-Yavuz, Ebru Nur, Eraslan, Serpil, Oflazer, Piraye, Kayserili, Hülya
Published in Neurological sciences (01.08.2020)
Published in Neurological sciences (01.08.2020)
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
Carrieri, Daniele, Howard, Heidi C, Benjamin, Caroline, Clarke, Angus J, Dheensa, Sandi, Doheny, Shane, Hawkins, Naomi, Halbersma-Konings, Tanya F, Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E, Lucassen, Anneke M, Mendes, Álvaro, Rial-Sebbag, Emmanuelle, Stefánsdóttir, Vigdís, Turnpenny, Peter D, van El, Carla G, van Langen, Irene M, Cornel, Martina C, Forzano, Francesca
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome
Palencia-Campos, Adrian, Ullah, Asmat, Nevado, Julian, Yildirim, Ruken, Unal, Edip, Ciorraga, Maria, Barruz, Pilar, Chico, Lucia, Piceci-Sparascio, Francesca, Guida, Valentina, De Luca, Alessandro, Kayserili, Hülya, Ullah, Irfan, Burmeister, Margit, Lapunzina, Pablo, Ahmad, Wasim, Morales, Aixa V, Ruiz-Perez, Victor L
Published in Human molecular genetics (01.12.2017)
Published in Human molecular genetics (01.12.2017)
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Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
Howaldt, Antonia, Nampoothiri, Sheela, Quell, Lisa-Marie, Ozden, Ayse, Fischer-Zirnsak, Björn, Collet, Corinne, de Vernejoul, Marie-Christine, Doneray, Hakan, Kayserili, Hülya, Kornak, Uwe
Published in Bone (New York, N.Y.) (01.03.2019)
Published in Bone (New York, N.Y.) (01.03.2019)
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Mutations in WNT1 Cause Different Forms of Bone Fragility
Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon, Christopher T, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J, McGowan, Ruth, Magee, Alex C, Altmüller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D, Nürnberg, Peter, Meschede, Dieter, Mühlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschké, Patrick, Ragge, Nicola, Lévy, Nicolas, Tunçbilek, Gökhan, Teo, Audrey S M, Cunningham, Michael L, Sefiani, Abdelaziz, Kayserili, Hülya, Murphy, James M, Chatdokmaiprai, Chalermpong, Hillmer, Axel M, Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas, Magdinier, Frédérique, Javed, Asif, Blewitt, Marnie E, Amiel, Jeanne, Wollnik, Bernd, Reversade, Bruno
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Bal, Elodie, Park, Hyun-Sook, Belaid-Choucair, Zakia, Kayserili, Hülya, Naville, Magali, Madrange, Marine, Chiticariu, Elena, Hadj-Rabia, Smail, Cagnard, Nicolas, Kuonen, Francois, Bachmann, Daniel, Huber, Marcel, Le Gall, Cindy, Côté, Francine, Hanein, Sylvain, Rosti, Rasim Özgür, Aslanger, Ayca Dilruba, Waisfisz, Quinten, Bodemer, Christine, Hermine, Olivier, Morice-Picard, Fanny, Labeille, Bruno, Caux, Frédéric, Mazereeuw-Hautier, Juliette, Philip, Nicole, Levy, Nicolas, Taieb, Alain, Avril, Marie-Françoise, Headon, Denis J, Gyapay, Gabor, Magnaldo, Thierry, Fraitag, Sylvie, Crollius, Hugues Roest, Vabres, Pierre, Hohl, Daniel, Munnich, Arnold, Smahi, Asma
Published in Nature Medicine (01.10.2017)
Published in Nature Medicine (01.10.2017)
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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Cohesin complex-associated holoprosencephaly
Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Published in Journal of medical genetics (01.10.2014)
Published in Journal of medical genetics (01.10.2014)
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Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
Berkay, Ezgi Gizem, Elkanova, Leyla, Kalaycı, Tuğba, Uludağ Alkaya, Dilek, Altunoğlu, Umut, Cefle, Kıvanç, Mıhçı, Ercan, Nur, Banu, Taşdelen, Elifcan, Bayramoğlu, Zuhal, Karaman, Volkan, Toksoy, Güven, Güneş, Nilay, Öztürk, Şükrü, Palandüz, Şükrü, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra Oya
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Bonnard, Carine, Strobl, Anna C, Shboul, Mohammad, Lee, Hane, Merriman, Barry, Nelson, Stanley F, Ababneh, Osama H, Uz, Elif, Güran, Tülay, Kayserili, Hülya, Hamamy, Hanan, Reversade, Bruno
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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