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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
Author / Creator:Park, Joohyun ; Flores, Bianca R ; Scherer, Katalin ; Kuepper, Hanna ; Rossi, Mari ; Rupprich, Katrin ; Rautenberg, Maren ; Deininger, Natalie ; Weichselbaum, Annette ; Grimm, Alexander ; Sturm, Marc ; Grasshoff, Ute ; Delpire, Eric ; Haack, Tobias B
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-04, Vol.57 (4), p.283-288
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Author / Creator:van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A. ; Alanay, Yasemin ; AlKindy, Adila ; Baban, Anwar ; Bayat, Allan ; Beck-Wödl, Stefanie ; Berry, Katherine ; Bijlsma, Emilia K. ; Brouwer, Alwin F.J. ; van der Burgt, Ineke ; Campeau, Philippe M. ; Canham, Natalie ; Chrzanowska, Krystyna ; 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 ; Heitink, Karin R. ; Herkert, Johanna C. ; den Hollander, Nicolette S. ; Horn, Denise ; Hunt, David ; Kant, Sarina G. ; Kato, Mitsuhiro ; Kayserili, Hülya ; 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. ; Calvo, Amparo Sanchis ; 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 ; 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.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
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Next-generation sequencing in X-linked intellectual disability
Author / Creator:Tzschach, Andreas ; Grasshoff, Ute ; Beck-Woedl, Stefanie ; Dufke, Claudia ; Bauer, Claudia ; Kehrer, Martin ; Evers, Christina ; Moog, Ute ; Oehl-Jaschkowitz, Barbara ; Di Donato, Nataliya ; Maiwald, Robert ; Jung, Christine ; Kuechler, Alma ; Schulz, Solveig ; Meinecke, Peter ; Spranger, Stephanie ; Kohlhase, Jürgen ; Seidel, Jörg ; Reif, Silke ; Rieger, Manuela ; Riess, Angelika ; Sturm, Marc ; Bickmann, Julia ; Schroeder, Christopher ; Dufke, Andreas ; Riess, Olaf ; Bauer, Peter
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (11), p.1513-1518
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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implicati...
Author / Creator:Löffler, Markus W. ; Steinhilber, Julia ; Hilke, Franz J. ; Haen, Sebastian P. ; Bösmüller, Hans ; Montes-Mojarro, Ivonne-Aidee ; Bonzheim, Irina ; Stäbler, Antje ; Faust, Ulrike ; Grasshoff, Ute ; Königsrainer, Ingmar ; Rammensee, Hans-Georg ; Kanz, Lothar ; Königsrainer, Alfred ; Beckert, Stefan ; Riess, Olaf ; Schroeder, Christopher
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-08, Vol.19 (1), p.144-7, Article 144
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An early onset cone dystrophy due to CEP290 mutation: a case report
Author / Creator:Binder, Anastasia ; Kohl, Susanne ; Grasshoff, Ute ; Schäferhoff, Karin ; Stingl, Katarina
Publisher:Dordrecht: Springer Nature B.V
Journal title:Documenta ophthalmologica, 2023-12, Vol.147 (3), p.203-209
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Author / Creator:Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia ; Schaeferhoff, Karin ; Kühlewein, Laura ; Kortüm, Friederike ; Witt, Dennis ; Liebmann, Alexandra ; Falb, Ruth ; Pohl, Lisa ; Reith, Milda ; Stühn, Lara G ; Bertrand, Miriam ; Müller, Amelie ; Casadei, Nicolas ; Kelemen, Olga ; Kelbsch, Carina ; Kernstock, Christoph ; Richter, Paul ; Sadler, Francoise ; Demidov, German ; Schütz, Leon ; Admard, Jakob ; Sturm, Marc ; Grasshoff, Ute ; Tonagel, Felix ; Heinrich, Tilman ; Nasser, Fadi ; Wissinger, Bernd ; Ossowski, Stephan ; Kohl, Susanne ; Riess, Olaf ; Stingl, Katarina ; Haack, Tobias B
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-02, Vol.61 (2), p.186-195
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Author / Creator: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.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-06, Vol.21 (6), p.1295-1307
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Author / Creator:Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram ; Grimmel, Mona ; Grasshoff, Ute ; Spranger, Stephanie ; Stöbe, Petra ; Gauck, Darja ; Kuechler, Alma ; Dikow, Nicola ; Schwaibold, Eva M C ; Schmidt, Christoph ; Averdunk, Luisa ; Buchert, Rebecca ; Heinrich, Tilman ; Prodan, Natalia ; Park, Joohyun ; Kehrer, Martin ; Sturm, Marc ; Kelemen, Olga ; Hartmann, Silke ; Horn, Denise ; Emmerich, Dirk ; Hirt, Nina ; Neumann, Armin ; Kristiansen, Glen ; Gembruch, Ulrich ; Haen, Susanne ; Siebert, Reiner ; Hentze, Sabine ; Hoopmann, Markus ; Ossowski, Stephan ; Waldmüller, Stephan ; Beck-Wödl, Stefanie ; Gläser, Dieter ; Tekesin, Ismail ; Distelmaier, Felix ; Riess, Olaf ; Kagan, Karl-Oliver ; Dufke, Andreas ; Haack, Tobias B
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-01, Vol.60 (1), p.48-56
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Next-generation sequencing in X-linked intellectual disability
Author / Creator:Tzschach, Andreas ; Grasshoff, Ute ; Beck-Woedl, Stefanie ; Dufke, Claudia ; Bauer, Claudia ; Kehrer, Martin ; Evers, Christina ; Moog, Ute ; Oehl-Jaschkowitz, Barbara ; Di Donato, Nataliya ; Maiwald, Robert ; Jung, Christine ; Kuechler, Alma ; Schulz, Solveig ; Meinecke, Peter ; Spranger, Stephanie ; Kohlhase, Jürgen ; Seidel, Jörg ; Reif, Silke ; Rieger, Manuela ; Riess, Angelika ; Sturm, Marc ; Bickmann, Julia ; Schroeder, Christopher ; Dufke, Andreas ; Riess, Olaf ; Bauer, Peter
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518
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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Author / Creator:Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah ; Hüffmeier, Ulrike ; Pauly, Melissa ; Reis, André ; Faivre, Laurence ; Maraval, Julien ; Bruel, Ange-Line ; Them, Frédéric Tran Mau ; Haack, Tobias B ; Grasshoff, Ute ; Horber, Veronka ; Schot, Rachel ; van Slegtenhorst, Marjon ; Wilke, Martina ; Barakat, Tahsin Stefan
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.350-356
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Author / Creator:Szakszon, Katalin ; Lourenco, Charles Marques ; Callewaert, Bert Louis ; Geneviève, David ; Rouxel, Flavien ; Morin, Denis ; Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Patterson, Wesley G ; Louie, Raymond ; Pinto e Vairo, Filippo ; Klee, Eric ; Kaiwar, Charu ; Gavrilova, Ralitza H ; Agre, Katherine E ; Jacquemont, Sebastien ; Khadijé, Jizi ; Giltay, Jacques ; van Gassen, Koen ; Merő, Gabriella ; Gerkes, Erica ; Van Bon, Bregje W ; Rinne, Tuula ; Pfundt, Rolph ; Brunner, Han G ; Caluseriu, Oana ; Grasshoff, Ute ; Kehrer, Martin ; Haack, Tobias B ; Khelifa, Melik Malek ; Bergmann, Anke Katharina ; Cueto-González, Anna Maria ; Martorell, Ariadna Campos ; Ramachandrappa, Shwetha ; Sawyer, Lindsey B ; Fasel, Pascale ; Braun, Dominique ; Isis, Atallah ; Superti-Furga, Andrea ; McNiven, Vanda ; Chitayat, David ; Ahmed, Syed Anas ; Brennenstuhl, Heiko ; Schwaibolf, Eva MC ; Battisti, Gladys ; Parmentier, Benoit ; Stevens, Servi J C
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-02, Vol.61 (2), p.132-141
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Author / Creator:Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodríguez Criado, Germán ; Grasshoff, Ute ; de Hoon, Bas ; Field, Michael ; Manouvrier-Hanu, Sylvie ; E. Hickey, Scott ; Kammoun, Molka ; Gripp, Karen W. ; Bauer, Claudia ; Schroeder, Christopher ; Toutain, Annick ; Mihalic Mosher, Theresa ; Kelly, Benjamin J. ; White, Peter ; Dufke, Andreas ; Rentmeester, Eveline ; Moon, Sungjin ; Koboldt, Daniel C ; van Roozendaal, Kees E. P. ; Hu, Hao ; Haas, Stefan A. ; Ropers, Hans-Hilger ; Murray, Lucinda ; Haan, Eric ; Shaw, Marie ; Carroll, Renee ; Friend, Kathryn ; Liebelt, Jan ; Hobson, Lynne ; De Rademaeker, Marjan ; Geraedts, Joep ; Fryns, Jean-Pierre ; Vermeesch, Joris ; Raynaud, Martine ; Riess, Olaf ; Gribnau, Joost ; Katsanis, Nicholas ; Devriendt, Koen ; Bauer, Peter ; Gecz, Jozef ; Golzio, Christelle ; Gontan, Cristina ; Kalscheuer, Vera M.
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2019-11, Vol.24 (11), p.1748-1768
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Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Author / Creator:Kuechler, Alma ; Czeschik, Johanna Christina ; Graf, Elisabeth ; Grasshoff, Ute ; Hüffmeier, Ulrike ; Busa, Tiffany ; Beck-Woedl, Stefanie ; Faivre, Laurence ; Rivière, Jean-Baptiste ; Bader, Ingrid ; Koch, Johannes ; Reis, André ; Hehr, Ute ; Rittinger, Olaf ; Sperl, Wolfgang ; Haack, Tobias B ; Wieland, Thomas ; Engels, Hartmut ; Prokisch, Holger ; Strom, Tim M ; Lüdecke, Hermann-Josef ; Wieczorek, Dagmar
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.183-191
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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
Author / Creator:Grzeschik, Karl-Heinz ; Bornholdt, Dorothea ; Oeffner, Frank ; König, Arne ; del Carmen Boente, María ; Enders, Herbert ; Fritz, Barbara ; Hertl, Michael ; Grasshoff, Ute ; Höfling, Katja ; Oji, Vinzenz ; Paradisi, Mauro ; Schuchardt, Christian ; Szalai, Zsuzsanna ; Tadini, Gianluca ; Traupe, Heiko ; Happle, Rudolf
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-07, Vol.39 (7), p.833-835
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Phenotypic spectrum associated with CASK loss-of-function mutations
Author / Creator:Moog, Ute ; Kutsche, Kerstin ; Kortüm, Fanny ; Chilian, Bettina ; Bierhals, Tatjana ; Apeshiotis, Neophytos ; Balg, Stefanie ; Chassaing, Nicolas ; Coubes, Christine ; Das, Soma ; Engels, Hartmut ; Van Esch, Hilde ; Grasshoff, Ute ; Heise, Marisol ; Isidor, Bertrand ; Jarvis, Joanna ; Koehler, Udo ; Martin, Thomas ; Oehl-Jaschkowitz, Barbara ; Ortibus, Els ; Pilz, Daniela T ; Prabhakar, Prab ; Rappold, Gudrun ; Rau, Isabella ; Rettenberger, Günther ; Schlüter, Gregor ; Scott, Richard H ; Shoukier, Moonef ; Wohlleber, Eva ; Zirn, Birgit ; Dobyns, William B ; Uyanik, Gökhan
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751
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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Author / Creator:Grasshoff, Ute ; Bonin, Michael ; Goehring, Ina ; Ekici, Arif ; Dufke, Andreas ; Cremer, Kirsten ; Wagner, Nicholas ; Rossier, Eva ; Jauch, Anna ; Walter, Michael ; Bauer, Claudia ; Bauer, Peter ; Horber, Karl ; Beck-Woedl, Stefanie ; Wieczorek, Dagmar
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.507-512
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Correction: The ARID1B spectrum in 143 patients: fromnonsyndromic intellectual disability to Coffin–Siris syndrome
Author / Creator: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 ; 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 ; 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 ; 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 ; 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 ; 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 ; Calvo, Amparo Sanchis ; 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 ; Eyyup, Uctepe ; Eda, Utine G ; Veenstra-Knol, Hermine E ; Venkateswaran Sunita ; Vilain Catheline ; Vincent-Delorme, Catherine ; Wheeler, Patricia ; Wilson, Golder N ; Wilson, Louise C ; Wollnik Bernd ; Kosho Tomoki ; Wieczorek Dagmar ; Eichler, Evan ; Rolph, Pfundt ; de Vries Bert B A ; Clayton-Smith, Jill ; Santen Gijs W E
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
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Genome-wide UPD screening in patients with intellectual disability
Author / Creator:Schroeder, Christopher ; Ekici, Arif Bülent ; Moog, Ute ; Grasshoff, Ute ; Mau-Holzmann, Ulrike ; Sturm, Marc ; Vosseler, Vanessa ; Poths, Sven ; Rappold, Gudrun ; Riess, Angelika ; Riess, Olaf ; Dufke, Andreas ; Bonin, Michael
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1233-1235
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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors
Author / Creator:Spiegler, Stefanie ; Najm, Juliane ; Liu, Jian ; Gkalympoudis, Stephanie ; Schröder, Winnie ; Borck, Guntram ; Brockmann, Knut ; Elbracht, Miriam ; Fauth, Christine ; Ferbert, Andreas ; Freudenberg, Leonie ; Grasshoff, Ute ; Hellenbroich, Yorck ; Henn, Wolfram ; Hoffjan, Sabine ; Hüning, Irina ; Korenke, G. Christoph ; Kroisel, Peter M. ; Kunstmann, Erdmute ; Mair, Martina ; Munk‐Schulenburg, Susanne ; Nikoubashman, Omid ; Pauli, Silke ; Rudnik‐Schöneborn, Sabine ; Sudholt, Irene ; Sure, Ulrich ; Tinschert, Sigrid ; Wiednig, Michaela ; Zoll, Barbara ; Ginsberg, Mark H. ; Felbor, Ute
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2014-03, Vol.2 (2), p.176-185
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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Author / Creator:Ehret, Julia K. ; Engels, Hartmut ; Cremer, Kirsten ; Becker, Jessica ; Zimmermann, Johannes P. ; Wohlleber, Eva ; Grasshoff, Ute ; Rossier, Eva ; Bonin, Michael ; Mangold, Elisabeth ; Bevot, Andrea ; Schön, Stefanie ; Heilmann-Heimbach, Stefanie ; Dennert, Nicola ; Mathieu-Dramard, Michèle ; Lacaze, Elodie ; Plessis, Ghislaine ; de Broca, Alain ; Jedraszak, Guillaume ; Röthlisberger, Benno ; Miny, Peter ; Filges, Isabel ; Dufke, Andreas ; Andrieux, Joris ; Lee, Jennifer A. ; Zink, Alexander M.
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2015-09, Vol.8 (1), p.72-72, Article 72
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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

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

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Next-generation sequencing in X-linked intellectual disability

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implicati...

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An early onset cone dystrophy due to CEP290 mutation: a case report

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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

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

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

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Next-generation sequencing in X-linked intellectual disability

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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

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Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

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Phenotypic spectrum associated with CASK loss-of-function mutations

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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

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Correction: The ARID1B spectrum in 143 patients: fromnonsyndromic intellectual disability to Coffin–Siris syndrome

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Genome-wide UPD screening in patients with intellectual disability

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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

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