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Nuria C. Bramswig

university of münster

23H-index
47Paper Count
2.5KCitation Count
Published Papers 26
Publication Date
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
errHUMAN GENETICS
IF3.6
err2023-12-20
err9
PREAI
errSchmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-07-27
err10
PREAI
errGanapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
errHUMAN MUTATION
IF3.7
err2020-03-12
err15
errOAAI
errBallout, Rami A.; Dickerson, Cheryl; Wick, Myra J.; Al-Sweel, Najla; Openshaw, Amanda S.; Srivastava, Siddharth; Swanson, Lindsay C.; Bramswig, Nuria C.; Kuechler, Alma; Hong, Bo; Fleming, Leah R.; Curry, Kathryn; Robertson, Stephen P.; Andersen, Erica F.; El-Hattab, Ayman W.
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2019-06-01
err51
errOAAI
errCapri, Yline; Flex, Elisabetta; Krumbach, Oliver H. F.; Carpentieri, Giovanna; Cecchetti, Serena; Lissewski, Christina; Adariani, Soheila Rezaei; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cedric; Kensah, George; Cuturilo, Goran; Jasemi, Neda S. Kazemein; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cave, Helene; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin
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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
errHUMAN GENETICS
IF3.6
err2018-08-23
err41
errOAAI
errBramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Broehl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Heron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michele; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Luedecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
errBRAIN
IF11.7
err2018-07-09
err78
errOAAI
errLessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Kuechler, Alma; de Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Luedecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Sacoto, Maria J. Guillen; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
errHUMAN MUTATION
IF3.7
err2018-07-04
err44
errOAAI
errMeester, Josephina A. N.; Sukalo, Maja; Schroeder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A.; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P.; Van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; Van Laer, Lut; Loeys, Bart L.; Zenker, Martin; Southgate, Laura; Wuyts, Wim
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2018-03-01
err78
errOAAI
errVasileiou, Georgia; Vergarajauregui, Silvia; Endele, Sabine; Popp, Bernt; Buettner, Christian; Ekici, Arif B.; Gerard, Marion; Bramswig, Nuria C.; Albrecht, Beate; Clayton-Smith, Jill; Morton, Jenny; Tomkins, Susan; Low, Karen; Weber, Astrid; Wenzel, Maren; Altmueller, Janine; Li, Yun; Wollnik, Bernd; Hoganson, George; Plona, Maria-Renee; Cho, Megan T.; Thiel, Christian T.; Luedecke, Hermann-Josef; Strom, Tim M.; Calpena, Eduardo; Wilkie, Andrew O. M.; Wieczorek, Dagmar; Engel, Felix B.; Reis, Andre
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errSave
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
errHUMAN GENETICS
IF3.6
err2017-04-09
err70
PREAI
errBramswig, Nuria C.; Luedecke, Hermann-Josef; Hamdan, Fadi F.; Altmueller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P. A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar
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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype
errHUMAN GENETICS
IF3.6
err2017-01-25
err65
PREAI
errBramswig, Nuria C.; Caluseriu, O.; Luedecke, H. -J.; Bolduc, F. V.; Noel, N. C. L.; Wieland, T.; Surowy, H. M.; Christen, H. -J.; Engels, H.; Strom, T. M.; Wieczorek, D.
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
errHUMAN GENETICS
IF3.6
err2017-01-24
err62
PREAI
errParenti, Ilaria; Teresa-Rodrigo, Maria E.; Pozojevic, Jelena; Gil, Sara Ruiz; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C.; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M.; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pie, Juan; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
errHUMAN GENETICS
IF3.6
err2016-11-15
err45
PREAI
errBramswig, Nuria C.; Luedecke, H. -J.; Pettersson, M.; Albrecht, B.; Bernier, R. A.; Cremer, K.; Eichler, E. E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H. M.; de Vries, B. B. A.; Wieland, T.; Engels, H.; Strom, T. M.; Kleefstra, T.; Wieczorek, D.
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2016-09-01
err84
errOAAI
errKim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.; Hauser, Natalie S.; Belmonte, Rebecca L.; Wilson, Gregory R.; Bosch, Danielle G. M.; Bubulya, Paula A.; Shashi, Vandana; Petrovski, Slave; Stone, Joshua K.; Park, Eun Young; Veltman, Joris A.; Sinnema, Margje; Stumpel, Connie T. R. M.; Draaisma, Jos M.; Nicolai, Joost; Yntema, Helger G.; Lindstrom, Kristin; de Vries, Bert B. A.; Jewett, Tamison; Santoro, Stephanie L.; Vogt, Julie; Bachman, Kristine K.; Seeley, Andrea H.; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortuem, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M.; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A.; Behunova, Jana; Rehder, Helga; Gordon, Christopher T.; Rio, Marlene; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T.; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G.; Brunner, Han G.; Mancini, Grazia M.; Myers, Richard M.; Owen, Laurie B.; Lim, Ssang-Taek; Stachura, David L.; Vissers, Lisenka E. L. M.; Ahn, Eun-Young Erin
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'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes
errHUMAN GENETICS
IF3.6
err2015-08-12
err26
PREAI
errBramswig, Nuria C.; Ockeloen, C. W.; Czeschik, J. C.; van Essen, A. J.; Pfundt, R.; Smeitink, J.; Poll-The, B. T.; Engels, H.; Strom, T. M.; Wieczorek, D.; Kleefstra, T.; Ludecke, H. -J.
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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies (vol 36, pg 593, 2015)
errHUMAN MUTATION
IF3.7
err2015-08-07
err13
errOAAI
errSukalo, Maja; Tilsen, Felix; Kayserili, Hulya; Mueller, Dietmar; Tuysuz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Orstavik, Karen Helene; Bramswig, Nuria C.; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura; Zenker, Martin
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
errHUMAN GENETICS
IF3.6
err2015-02-28
err60
PREAI
errBramswig, Nuria C.; Luedecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H.; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillen-Navarro, Encarna; Kiper, Pelin Ozlem Simsek; Lopez-Gonzalez, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J.; Wollnik, Bernd; Strom, Tim M.; Wieczorek, Dagmar
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
errHUMAN GENETICS
IF3.6
err2014-10-19
err101
PREAI
errKuechler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; van Bokhoven, Hans; van den Boogaard, Marie Jose H.; Bramswig, Nuria; Buettner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; van Gassen, Koen; Graf, Elisabeth; van Haelst, Mieke; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; de Munnik, Sonja; Pastore, Matthew; Reis, Andre; Reuter, Miriam S.; Tegay, David H.; Veltman, Joris; Visser, Gepke; van Hasselt, Peter; Smeets, Eric E. J.; Vissers, Lisenka; Wieland, Thomas; Wissink, Willemijn; Yntema, Helger; Zink, Alexander Michael; Strom, Tim M.; Luedecke, Hermann-Josef; Kleefstra, Tjitske; Wieczorek, Dagmar
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Research Directions

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Co-authors
Cooperation Journals
E
Evan E. Eichler
H-index: 191 · Papers: 864
J
James R. Lupski
H-index: 144 · Papers: 1.1K
R
R Myers
H-index: 135 · Papers: 1.3K
K
Klaus H. Kaestner
H-index: 126 · Papers: 602
R
Richard C. Trembath
H-index: 118 · Papers: 586
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