Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

by 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

Responsible implementation of expanded carrier screening

by 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

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

by 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)

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

by 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

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

by Börklü-Yücel, Esra, Demiriz, Çiğdem, Avcı, Şahin, Vanlı-Yavuz, Ebru Nur, Eraslan, Serpil, Oflazer, Piraye, Kayserili, Hülya
Published in Neurological sciences

Mutations in WNT1 Cause Different Forms of Bone Fragility

by 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

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

by 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

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

by 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

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

by 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.)

Cohesin complex-associated holoprosencephaly

by 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)

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

by 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.)

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

by 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

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

by 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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

by van der Sluijs, Pleuntje J, Jansen, Sandra, 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, Chu, Yoyo W Y, Chung, Brain H Y, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R, Fagerberg, Christina, Gardham, Alice, Gerkes, Erica H, Grasshoff, Ute, van Haeringen, Arie, 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, Milunsky, Jeff, 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, Tanabe, Saori, Uctepe, Eyyup, Utine, G Eda, Veenstra-Knol, Hermine E, Venkateswaran, Sunita, Vilain, Catheline, 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, Clayton-Smith, Jill, Santen, Gijs W E
Published in Genetics in medicine

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

by Bögershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Özlem Simsek, Beleggia, Filippo, Percin, E Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin, Kayserili, Hülya, Liu, Yicheng, Banka, Siddharth, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar, Elcioglu, Nursel, Prontera, Paolo, Lyonnet, Stanislas, Meitinger, Thomas, Stewart, A Francis, Donnai, Dian, Strom, Tim M, Boduroglu, Koray, Yigit, Gökhan, Li, Yun, Katsanis, Nicholas, Wollnik, Bernd
Published in The Journal of clinical investigation

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

by White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.
Published in American journal of human genetics

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

by 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

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

by Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher
Published in Molecular cytogenetics

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

by Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hülya, Alanay, Yasemin, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A., van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva, Kornak, Uwe
Published in Human genetics

Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

by Theil, Arjan F, Pines, Alex, Kalayci, Tuğba, Heredia-Genestar, José M, Raams, Anja, Rietveld, Marion H, Sridharan, Sriram, Tanis, Sabine Ej, Mulder, Klaas W, Büyükbabani, Nesimi, Karaman, Birsen, Uyguner, Zehra O, Kayserili, Hülya, Hoeijmakers, Jan Hj, Lans, Hannes, Demmers, Jeroen Aa, Pothof, Joris, Altunoglu, Umut, El Ghalbzouri, Abdoelwaheb, Vermeulen, Wim
Published in EMBO molecular medicine