Auflistung Universitätsbibliographie nach Autor "Riess, Angelika"

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Auflistung Universitätsbibliographie nach Autor "Riess, Angelika"

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  • A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
    Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
  • ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients
    Sachsenweger, Juliane; Jansche, Rebecca; Merk, Tatjana; Heitmeir, Benedikt; Deniz, Miriam; Faust, Ulrike; Roggia, Cristiana; Tzschach, Andreas; Schroeder, Christopher; Riess, Angelika; Pospiech, Helmut; Peltoketo, Hellevi; Pylkaes, Katri; Winqvist, Robert; Wiesmueller, Lisa (2023)
  • ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description
    Neuhann, Teresa M.; Stegerer, Annette; Riess, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Klaes, Ruediger; Bouman, Arjan; Kuechler, Alma; Rittinger, Olaf (2015)
  • Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
    Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger (2021)
  • Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
    Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, Francois; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban; Bonneau, Dominique; Colin, Estelle; Mercier, Sandra; Cogne, Benjamin; Bezieau, Stephane; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Sabatier, Isabelle; Duban-Bedu, Benedicte; Colson, Cindy; Piton, Amelie; Durand, Benjamin; Capri, Yline; Perrin, Laurence; Wiesener, Antje; Zweier, Christiane; Maroofian, Reza; Carroll, Christopher J.; Galehdari, Hamid; Mazaheri, Neda; Callewaert, Bert; Giulianno, Fabienne; Zaafrane-Khachnaoui, Khaoula; Buchert-Lo, Rebecca; Haack, Tobias; Magg, Janine; Riess, Angelika; Blandfort, Maria; Waldmueller, Stephan; Horber, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla, Licia; Murgia, Alessandra; Frebourg, Thierry; Lebre, Anne Sophie; Nicolas, Gael; Saugier-Veber, Pascale; Guerrot, Anne-Marie (2020)
  • Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
    Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Cappuyns, Elisa; van der Werf, Ilse M.; Mancini, Grazia M.; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E.; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B. A.; Kury, Sebastien; Rosenfeld, Jill A.; Meuwissen, Marije E.; Vandeweyer, Geert; Kooy, R. Frank; Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Celine; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabiola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Riess, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H. E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; Gonzalez-Lamuno, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjold, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Vergano, Samantha A. Schrier; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy (2019)
  • Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome
    Gburek-Augustat, Janina; Beck-Woedl, Stefanie; Tzschach, Andreas; Bauer, Peter; Schoening, Martin; Riess, Angelika (2016)
  • Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
    Alvarez, Carolina; Grimmel, Mona; Ebrahimi-Fakhari, Darius; Paul, Victoria G. G.; Deininger, Natalie; Riess, Angelika; Haack, Tobias; Gardella, Elena; Moller, Rikke S. S.; Bayat, Allan (2023)
  • First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation
    Riess, Angelika; Binder, Gerhard; Ziegler, Julian; Begemann, Matthias; Soellner, Lukas; Eggermann, Thomas (2016)
  • FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants
    Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Pluemacher, Kim Sarah; Schroeder, Simone; Warthemann, Rita; Abou Jamra, Rami; Baethmann, Martina; Bast, Thomas; Buettel, Hans-Martin; Cohen, Julie S.; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali; Grebe, Theresa A.; Hauser, Natalie S.; Heinritz, Wolfram; Helbig, Katherine L.; Heruth, Marion; Huhle, Dagmar; Hoeft, Karen; Karch, Stephanie; Kluger, Gerhard; Korenke, G. Christoph; Lemke, Johannes R.; Lutz, Richard E.; Patzer, Steffi; Prehl, Isabelle; Hoertnagel, Konstanze; Ramsey, Keri; Rating, Tina; Riess, Angelika; Rohena, Luis; Schimmel, Mareike; Westman, Rachel; Zech, Frank-Martin; Zoll, Barbara; Malzahn, Dorthe; Zirn, Birgit; Brockmann, Knut (2018)
  • FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
    Reuter, Miriam S.; Riess, Angelika; Moog, Ute; Briggs, Tracy A.; Chandler, Kate E.; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Glaeser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Woedl, Stefanie; Kohlhase, Juergen; Reis, Andre; Zweier, Christiane (2017)
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Mignot, Cyril; Nava, Caroline; Ville, Dorothee; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnes; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yis, Uluc; Caglayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, Andre; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Biskup, Saskia; Lemke, Johannes R.; Heron, Delphine; Kluger, Gerhard; Depienne, Christel; von Stülpnagel, Celina; Hörtnagel, Konstanze (2016)
  • Genetic basis of neurodevelopmental disorders in 103 Jordanian families
    Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al-Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al-Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda; Riess, Angelika; Haack, Tobias B.; Riess, Olaf; Buchert, Rebecca (2020)
  • Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
    Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Luettgen, Sabine; Aydin, Hatip; von Deimling, Florian; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Juliana Ballesta-Martinez, Maria; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerova, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin; Zenker, Martin (2016)
  • GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
    Hengel, H.; Keimer, R.; Deigendesch, W.; Riess, A.; Marzouqa, H.; Zaidan, J.; Bauer, P.; Schoels, L. (2018)
  • Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
    Zarate, Yuri A.; Bosanko, Katherine A.; Thomas, Mary Ann; Miller, David T.; Cusmano-Ozog, Kristina; Martinez-Monseny, Antonio; Curry, Cynthia J.; Graham, John M., Jr.; Velsher, Lea; Bekheirnia, Mir Reza; Seidel, Veronica; Dedousis, Demitrios; Mitchell, Anna L.; DiMarino, Amy M.; Riess, Angelika; Balasubramanian, Meena; Fish, Jennifer L.; Caffrey, Aisling R.; Fleischer, Nicole; Pierson, Tyler Mark; Lacro, Ronald, V (2021)
  • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
    O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Victor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raul; Heron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoe; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Riess, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; van der Linden, Helio, Jr.; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel (2019)
  • Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
    Weisschuh, Nicole; Aisenbrey, Sabine; Wissinger, Bernd; Riess, Angelika (2012)
  • In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
    Morison, Lottie D.; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A.; Amor, David J.; Kleefstra, Tjitske; Fisher, Simon E.; Zweier, Christiane; Morgan, Angela T. (2023)
  • Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
    van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske (2022)