2024
Begutachteter Zeitschriftenartikel
Ramamoorthy, Senthilkumar; Lebrecht, Dirk; Schanze, Denny; Schanze, Ina; Wieland, Ilse; Andrieux, Geoffroy; Metzger, Patrick; Hess, Maria; Albert, Michael; Borkhardt, Arndt; Bresters, Dorine; Buechner, Jochen; Catala, Albert; Haas, Valerie De; Dworzak, Michael; Erlacher, Miriam; Hasle, Henrik; Jahnukainen, Kirsi; Locatelli, Franco; Masetti, Riccardo; Stary, Jan; Turkiewicz, Dominik; Vinci, Luca; Wlodarski, Marcin W.; Yoshimi-Nöllke, Ayami; Börries, Melanie; Niemeyer, Charlotte; Zenker, Martin; Flotho, Christian
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia - genetic evidence of driver function and implications for diagnostic workup
In: British journal of haematology - Oxford [u.a.] : Wiley-Blackwell, Bd. 204 (2024), Heft 2, S. 595-605
Begutachteter Zeitschriftenartikel
Borroto, Maria Carla; Michaud, Coralie; Hudon, Chloé; Agrawal, Pankaj B.; Agre, Katherine; Applegate, Carolyn D.; Beggs, Alan H.; Bjornsson, Hans T.; Callewaert, Bert; Chen, Mei-Jan; Curry, Cynthia J.; Devinsky, Orrin; Dudding-Byth, Tracy; Fagan, Kelly; Finnila, Candice R.; Gavrilova, Ralitza; Genetti, Casie A.; Hiatt, Susan M.; Hildebrandt, Friedhelm; Wojcik, Monica H.; Kleefstra, Tjitske; Kolvenbach, Caroline; Korf, Bruce R.; Kruszka, Paul; Li, Hong; Litwin, Jessica; Marcadier, Julien; Platzer, Konrad; Blackburn, Patrick R.; Reijnders, Margor R. F.; Reutter, Heiko; Schanze, Ina; Shieh, Joseph T.; Stevens, Cathy A.; Valivullah, Zaheer; Boogaard, Marie-José van den; Klee, Eric W.; Campeau, Philippe M.
A genotype/phenotype study of KDM5B-associated disorders suggests a pathogenic effect of dominantly inherited missense variants
In: Genes - Basel : MDPI, Bd. 15 (2024), Heft 8, Artikel 1033, insges. 13 S.
2022
Begutachteter Zeitschriftenartikel
Vossschulte, Hendrik; Mohnike, Konrad; Mohnike, Klaus; Warncke, Katharina; Akcay, Ayse; Zenker, Martin; Wieland, Ilse; Schanze, Ina; Höfele, Julia; Förster, Christine; Barthlen, Winfried; Stahlberg, Kim Laura; Empting, Susann
Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 6 (2022), 6, S. 1-8
Begutachteter Zeitschriftenartikel
Zepeda Romero, Luz Consuelo; Zenker, Martin; Schanze, Denny; Schanze, Ina; Peña-Padilla, Christian; Quezada-Salazar, Claudia Angélica; Pacheco-Torres, Paulina Araceli; Rivera-Montellano, María Luisa; Aguirre-Guillén, Rafael Luis; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), 12
Begutachteter Zeitschriftenartikel
Wieland, Ilse; Schanze, Ina; Felgendreher, Ina; Barthlen, Winfried; Vogelgesang, Silke; Mohnike, Klaus; Zenker, Martin
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.
2020
Abstract
Wieland, Ilse; Schanze, Ina; Gnekow, Astrid K.; Kuhlen, Michaela; Maier, Felicitas; Wahl, Dagmar; Frühwald, Michael; Zenker, Martin
Identification of a germline interstitial deletion in 14q32.13 in a child and mother with DICER1 syndrome
In: European journal of human genetics - Basingstoke: Stockton Press, 1998, Vol. 28.2020, Suppl. 1, P03.20.B, S. 212-213
Begutachteter Zeitschriftenartikel
Friedrich, Reinhard E.; Hagel, Christian; Kohlrusch, Felix K.; Schanze, Ina; Wieland, Ilse; Zenker, Martin
Mosaic neurofibromatosis type 1 with multiple cutaneous diffuse and plexiform neurofibromas of the lower leg
In: Anticancer research : international journal of cancer research and treatment - Attiki, Bd. 40.2020, 6, S. 3423-3427
Begutachteter Zeitschriftenartikel
Martinelli, Simone; Pannone, Luca; Lißewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocchinfuso, Gianfranco; Ryten, Mina; Stella, Lorenzo; Tartaglia, Marco; Zenker, Martin
Pathogenic PTPN11 variants involving the polyglutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation
In: Human mutation - New York, NY [u.a.] : Wiley-Liss, Bd. 41.2020, 6, S. 1171-1182
2019
Abstract
Büttner, Benjamin; Martin, Sonja; Krey, Ilona; Le Duc, Diana; Bartolomaeus, Tobias; Heine, Constanze Sophia; Huhle, Dagmar; Kiess, Wieland; Merkenschlager, Andreas; Bernhard, Matthias; Pfäffle, Roland Werner; Hornemann, Frauke; Wieczorek, Dagmar; Hoffjan, Sabine; Hellenbroich, Yorck; Küchler, Alma; Elgizouli, Magdeldin; Syrbe, Steffen; Schlump, Jan-Ulrich; Schumacher, Johannes; Rolfs, Arndt; Biskup, Saskia; Di Donato, Nataliya; Tzschach, Andreas; Schmitz, Yvonne; Leye, Stefan; Ewald, Roland; Schanze, Ina; Zenker, Martin; Muschke, Petra
Scientific yield of clinical exome sequencing of neurodevelopmental disorders
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, P08.74B, Seite 244-245
Abstract
Kamphausen, Susanne Barbara; Schanze, Ina; Zenker, Martin
Rare diagnosis of autosomal-recessive Pitt-Hopkins-like syndrome 2 by microarray-analysis
In: European journal of human genetics: the official journal of the European Society of Human Genetics - Basingstoke: Stockton Press, Bd. 27.2019, Suppl. 1, E-P08.23, Seite 950
Begutachteter Zeitschriftenartikel
Karoglan, Ante; Schanze, Denny; Bär, Claudia; Muschke, Petra; Zenker, Martin; Schanze, Ina
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 179.2019, 5, S. 832-836
Begutachteter Zeitschriftenartikel
Zenker, Martin; Bunt, Jens; Schanze, Ina; Schanze, Denny; Piper, Michael; Priolo, Manuela; Gerkes, Erica H.; Gronostajski, Richard M.; Richards, Linda J.; Vogt, Julie; Wessels, Marja W.; Hennekam, Raoul C.
Variants in nuclear factor I genes influence growth and development
In: American journal of medical genetics / C - Hoboken, NJ: Wiley-Liss, 2003, Bd. 181.2019, 4, S. 611-626
2018
Begutachteter Zeitschriftenartikel
Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P.; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterine; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S.; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W.; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
In: Genetics in medicine - London, UK: Springer Nature, Bd. 20.2018, 9, S. 965-975
Begutachteter Zeitschriftenartikel
Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa; Neuhofer, Christiane Michaela; Möller, Janika; Wehner, Peter; Revenswaaij-Arts, Conny M. A.; Wong, Monica T. Y.; Schanze, Ina; Tzschach, Andreas; Bartsch, Oliver; Borchers, Annette; Pauli, Silke Jeannette
Sema3a plays a role in the pathogenesis of CHARGE syndrome
In: Human molecular genetics - Oxford: Oxford Univ. Press, Bd. 27.2018, 8, S. 1343-1352
Begutachteter Zeitschriftenartikel
Schanze, Ina; Bunt, Jens; Lim, Jonathan W. C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J.; Cho, Megan T.; Dobyns, William B.; Donnai, Dian; Douglas, Jessica; Earl, Dawn L.; Edwards, Timothy J.; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F.; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M.; Morgan, Sian M.; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B.; Schneider, Anouck; Sherr, Elliott H.; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M.; Zenker, Martin; Richards, Linda J.
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
In: The American journal of human genetics - New York, NY [u.a.]: Cell Press, Bd. 103.2018, 5, S. 752-768
Begutachteter Zeitschriftenartikel
Neusel, Chantal; Class, Dieter; Eckert, Alexander W.; Firsching, Raimund; Göbel, Peter; Götz, Dorit; Haase, Roland; Jorch, Gerhard; Köhn, Andrea; Kropf, Siegfried; Patzer, Ludwig; Schanze, Ina; Zahl, Christian; Rißmann, Anke
Multicentre approach to epidemiological aspects of craniosynostosis in Germany
In: The British journal of oral & maxillofacial surgery - Amsterdam [u.a.]: Elsevier, 1984, Bd. 56.2018, 9, S. 881-886
2017
Begutachteter Zeitschriftenartikel
Altmüller, Franziska; Lißewski, Christina; Bertola, Debora; Flex, Elisabetta; Stark, Zornitza; Spranger, Stephanie; Baynam, Gareth; Buscarilli, Michelle; Dyack, Sarah; Gillis, Jane; Yntema, Helger G.; Pantaleoni, Francesca; Loon, Rosa L.E.; MacKay, Sara; Mina, Kym; Schanze, Ina; Tan, Tiong Yang; Walsh, Maie; White, Susan M.; Niewisch, Marena Rebekka; García-Miñaúr, Sixto; Plaza, Diego; Ahmadian, Mohammad Reza; Cavé, Hélène; Tartaglia, Marco; Zenker, Martin
Genotype and phenotype spectrum of NRAS germline variants
In: European journal of human genetics : the official journal of the European Society of Human Genetics - Basingstoke : Stockton Press, Bd. 25.2017, 7, S. 823-831
Begutachteter Zeitschriftenartikel
Sukalo, Maja; Schäflein, Eva; Schanze, Ina; Everman, David B.; Rezaei, Nima; Argente, Jesús; Lorda-Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin
Expanding the mutational spectrum in Johanson-Blizzard syndrome - identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 5 (2017), 6, S. 774-780
2016
Begutachteter Zeitschriftenartikel
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E.; Fannemel, Madeleine; Fjær, Roar; Giordano, Lucio; Helbig, Katherine L.; Heyne, Henrike; Klepper, Jörg; Kluger, Gerhard J.; Lederer, Damien; Lodi, Monica; Maier, Oliver; Merkenschlager, Andreas; Michelberger, Nina; Minetti, Carlo; Muhle, Hiltrud; Phalin, Judith; Ramsey, Keri; Romeo, Antonino; Schallner, Jens; Schanze, Ina; Shinawi, Marwan; Sleegers, Kristel; Sterbova, Katalin; Syrbe, Steffen; Traverso, Monica; Tzschach, Andreas; Uldall, Peter; Coster, Rudy; Verhelst, Helene; Viri, Maurizio; Winter, Susan; Wolff, Markus; Zenker, Martin; Zoccante, Leonardo; Jonghe, Peter; Helbig, Ingo; Striano, Pasquale; Lemke, Johannes Rudolph; Møller, Rikke S.; Weckhuysen, Sarah
STXBP1 encephalopathy - a neurodevelopmental disorder including epilepsy
In: Neurology - Philadelphia, Pa: Wolters Kluwer, Bd. 86 (2016), 10, S. 954-962
Begutachteter Zeitschriftenartikel
Srivastava, Siddharth; Engels, Hartmut; Schanze, Ina; Cremer, Kirsten; Wieland, Thomas; Menzel, Moritz Martin; Schubach, Max; Biskup, Saskia; Kreiß, Martina; Endele, Sabine; Strom, Tim M.; Wieczorek, Dagmar; Zenker, Martin; Gupta, Siddharth; Cohen, Julie; Zink, Alexander; Naidu, SakkuBai
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
In: European journal of human genetics - Basingstoke: Stockton Press, Bd. 24 (2016), 4, S. 556-561
2015
Begutachteter Zeitschriftenartikel
Lißewski, Christina; Kant, Sarina G.; Stark, Zornitza; Schanze, Ina; Zenker, Martin
Copy number variants including RAS pathway genes - How much RASopathy is in the phenotype?
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 167.2015, 11, S. 2685-2690
Begutachteter Zeitschriftenartikel
Hochstenbach, Ron; Nowakowska, Beata; Volleth, Marianne; Ummels, Amber; Kutkowska-Kazmierczak, Anna; Obersztyn, Ewa; Ziemkiewicz, Kamila; Gerloff, Claudia; Schanze, Denny; Zenker, Martin; Muschke, Petra; Schanze, Ina; Poot, Martin; Liehr, Thomas
Multiple small supernumerary marker chromosomes resulting from maternal meiosis I or II errors
In: Molecular syndromology - Basel: Karger, 2010, Bd. 6.2015, 5, S. 210-221
Begutachteter Zeitschriftenartikel
Kratz, Christian Peter; Franke, L.; Peters, Hartmut; Kohlschmidt, Nicolai; Kazmierczak, Bernd; Finckh, Ulrich; Bier, Andrea; Eichhorn, Birgit; Blank, Cornelia; Kraus, Cornelia; Kohlhase, Jürgen; Pauli, Silke Jeannette; Wildhardt, Gabriele; Kutsche, Kerstin; Auber, Bernd; Christmann, Alexander; Bachmann, Nadine; Mitter, Diana; Cremer, Friedrich W.; Mayer, Karin; Daumer-Haas, Cornelia; Nevinny-Stickel-Hinzpeter, Claudia; Oeffner, Frank; Schlüter, Gregor; Gencik, Martin; Überlacker, Bärbel; Lißewski, Christina; Schanze, Ina; Greene, Mark H.; Spix, Claudia; Zenker, Martin
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
In: British journal of cancer: BJC - Edinburgh: Nature Publ. Group, Bd. 112.2015, 8, S. 1392-1397
2014
Begutachteter Zeitschriftenartikel
Schanze, Denny; Neubauer, Dorothée; Cormier-Daire, Valerie; Delrue, Marie-Ange; Dieux-Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E.; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C.; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul C.M.; Zenker, Martin
Deletions in the 3' part of the NFIX gene including a recurrent alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 9, S. 1092-1100
Begutachteter Zeitschriftenartikel
Gregor, Anne; Kramer, Jamie M.; Voet, Monique; Schanze, Ina; Uebe, Steffen; Donders, Rogier; Reis, André; Schenck, Annette; Zweier, Christiane
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 35.2014, 12, S. 1495-1505
Begutachteter Zeitschriftenartikel
Wieland, Ilse; Schanze, Denny; Schanze, Ina; Volleth, Marianne; Muschke, Petra; Zenker, Martin
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164.2014, 12, S. 3213-3214
Begutachteter Zeitschriftenartikel
Reuter, Miriam S.; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A.; Feichtinger, René G.; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif Bülent; Reis, André
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, 2003, Bd. 164.2014, 12, S. 3162-3169
2013
Begutachteter Zeitschriftenartikel
Schanze, Ina; Schanze, Denny; Bacino, Carlos A.; Douzgou, Sofia; Kerr, Bronwyn; Zenker, Martin
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 56 (2013), 2, S. 108-113
