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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Author / Creator:Holling Tess ; Nampoothiri Sheela ; Tarhan Bedirhan ; Schneeberger, Pauline E ; Vinayan Kollencheri Puthenveettil ; Yesodharan Dhanya ; Roy, Arun Grace ; Periyasamy, Radhakrishnan ; Malik, Alawi ; Rhodes, Lindsay ; Girisha Katta Mohan ; Kang, Peter B ; Kutsche Kerstin
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.439-449
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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Author / Creator:Kortüm, Fanny ; Caputo, Viviana ; Bauer, Christiane K ; Stella, Lorenzo ; Ciolfi, Andrea ; Alawi, Malik ; Bocchinfuso, Gianfranco ; Flex, Elisabetta ; Paolacci, Stefano ; Dentici, Maria Lisa ; Grammatico, Paola ; Korenke, Georg Christoph ; Leuzzi, Vincenzo ; Mowat, David ; Nair, Lal D V ; Nguyen, Thi Tuyet Mai ; Thierry, Patrick ; White, Susan M ; Dallapiccola, Bruno ; Pizzuti, Antonio ; Campeau, Philippe M ; Tartaglia, Marco ; Kutsche, Kerstin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-06, Vol.47 (6), p.661-667
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Author / Creator:Endele, Sabine ; Rosenberger, Georg ; Geider, Kirsten ; Popp, Bernt ; Tamer, Ceyhun ; Stefanova, Irina ; Milh, Mathieu ; Kortum, Fanny ; Fritsch, Angela ; Pientka, Friederike K ; Hellenbroich, Yorck ; Kalscheuer, Vera M ; Kohlhase, Jurgen ; Moog, Ute ; Rappold, Gudrun ; Rauch, Anita ; Ropers, Hans-Hilger ; von Spiczak, Sarah ; Tonnies, Holger ; Villeneuve, Nathalie ; Villard, Laurent ; Zabel, Bernhard ; Zenker, Martin ; Laube, Bodo ; Reis, Andre ; Wieczorek, Dagmar ; Van Maldergem, Lionel ; Kutsche, Kerstin
Publisher:New York: Nature Publishing Group
Journal title:Nature genetics, 2010-11, Vol.42 (11), p.1021-6
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Author / Creator:Coste de Bagneaux, Pierre ; von Elsner, Leonie ; Bierhals, Tatjana ; Campiglio, Marta ; Johannsen, Jessika ; Obermair, Gerald J. ; Hempel, Maja ; Flucher, Bernhard E. ; Kutsche, Kerstin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-03, Vol.16 (3), p.e1008625-e1008625
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
Author / Creator:Gripp, Karen W ; Smithson, Sarah F ; Scurr, Ingrid J ; Baptista, Julia ; Majumdar Anirban ; Germaine, Pierre ; Williams, Maggie ; Henderson, Lindsay B ; Wentzensen, Ingrid M ; McLaughlin, Heather ; Leeuwen Lisette ; Simon Marleen E H ; van Binsbergen Ellen ; Dinulos Mary Beth P ; Kaplan, Julie D ; McRae, Anne ; Superti-Furga Andrea ; Good, Jean-Marc ; Kutsche Kerstin
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1384-1395
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Author / Creator:Cordeddu, Viviana ; Di Schiavi, Elia ; Pennacchio, Len A ; Ma'ayan, Avi ; Sarkozy, Anna ; Fodale, Valentina ; Cecchetti, Serena ; Cardinale, Alessio ; Martin, Joel ; Schackwitz, Wendy ; Lipzen, Anna ; Zampino, Giuseppe ; Mazzanti, Laura ; Digilio, Maria C ; Martinelli, Simone ; Flex, Elisabetta ; Lepri, Francesca ; Bartholdi, Deborah ; Kutsche, Kerstin ; Ferrero, Giovanni B ; Anichini, Cecilia ; Selicorni, Angelo ; Rossi, Cesare ; Tenconi, Romano ; Zenker, Martin ; Merlo, Daniela ; Dallapiccola, Bruno ; Iyengar, Ravi ; Bazzicalupo, Paolo ; Gelb, Bruce D ; Tartaglia, Marco
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1022-1026
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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Author / Creator:Nayak, Shalini S. ; Schneeberger, Pauline E. ; Patil, Siddaramappa J. ; Arun, Karegowda M. ; Suresh, Pujar V. ; Kiran, Viralam S. ; Siddaiah, Sateesh ; Maiya, Shreesha ; Venkatachalagupta, Shrikanth K. ; Kausthubham, Neethukrishna ; Kortüm, Fanny ; Rau, Isabella ; Wey-Fabrizius, Alexandra ; Van Den Heuvel, Lotte ; Meester, Josephina ; Van Laer, Lut ; Shukla, Anju ; Loeys, Bart ; Girisha, Katta M. ; Kutsche, Kerstin
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-01, Vol.11 (1), p.764-764, Article 764
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Author / Creator:Knapp, Karen M ; Jenkins, Danielle E ; Sullivan, Rosie ; Harms, Frederike L ; von Elsner Leonie ; Ockeloen, Charlotte W ; de Munnik Sonja ; Bongers Ernie M H F ; Murray, Jennie ; Pachter, Nicholas ; Denecke Jonas ; Kutsche Kerstin ; Bicknell, Louise S
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1110-1120
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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Author / Creator:Hecher, Laura ; Harms, Frederike L ; Lisfeld, Jasmin ; Alawi, Malik ; Denecke, Jonas ; Kutsche, Kerstin
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neurogenetics, 2023-04, Vol.24 (2), p.79-93
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Author / Creator:Lissewski Christina ; Chune Valérie ; Pantaleoni Francesca ; De, Luca Alessandro ; Capri Yline ; Brinkmann, Julia ; Lepri Francesca ; Daniele, Paola ; Leenders, Erika ; Mazzanti, Laura ; Scarano Emanuela ; Radio Francesca Clementina ; Kutsche Kerstin ; Kuechler Alma ; Marion, Gérard ; Ranguin Kara ; Legendre Marine ; Vial Yoann ; van der Burgt Ineke ; Rinne Tuula ; Andreucci, Elena ; Mastromoro Gioia ; Digilio, Maria Cristina ; Cave Hélène ; Tartaglia, Marco ; Zenker, Martin
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.51-60
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ArticlesPeer ReviewedFull Text
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Author / Creator:Meyer zum Büschenfelde, Uta ; Brandenstein, Laura Isabel ; von Elsner, Leonie ; Flato, Kristina ; Holling, Tess ; Zenker, Martin ; Rosenberger, Georg ; Kutsche, Kerstin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-05, Vol.14 (5), p.e1007370-e1007370
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ArticlesPeer ReviewedFull Text
A restricted spectrum of NRAS mutations causes Noonan syndrome
Author / Creator:Cirstea, Ion C ; Kutsche, Kerstin ; Dvorsky, Radovan ; Gremer, Lothar ; Carta, Claudio ; Horn, Denise ; Roberts, Amy E ; Lepri, Francesca ; Merbitz-Zahradnik, Torsten ; König, Rainer ; Kratz, Christian P ; Pantaleoni, Francesca ; Dentici, Maria L ; Joshi, Victoria A ; Kucherlapati, Raju S ; Mazzanti, Laura ; Mundlos, Stefan ; Patton, Michael A ; Silengo, Margherita Cirillo ; Rossi, Cesare ; Zampino, Giuseppe ; Digilio, Cristina ; Stuppia, Liborio ; Seemanova, Eva ; Pennacchio, Len A ; Gelb, Bruce D ; Dallapiccola, Bruno ; Wittinghofer, Alfred ; Ahmadian, Mohammad R ; Tartaglia, Marco ; Zenker, Martin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-01, Vol.42 (1), p.27-29
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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Author / Creator:Renner, Sina ; Schüler, Helke ; Alawi, Malik ; Kolbe, Verena ; Rybczynski, Meike ; Woitschach, Rixa ; Sheikhzadeh, Sara ; Stark, Veronika C. ; Olfe, Jakob ; Roser, Elke ; Seggewies, Friederike Sophia ; Mahlmann, Adrian ; Hempel, Maja ; Hartmann, Melanie J. ; Hillebrand, Mathias ; Wieczorek, Dagmar ; Volk, Alexander Erich ; Kloth, Katja ; Koch-Hogrebe, Margarete ; Abou Jamra, Rami ; Mitter, Diana ; Altmüller, Janine ; Wey-Fabrizius, Alexandra ; Petersen, Christine ; Rau, Isabella ; Borck, Guntram ; Kubisch, Christian ; Mir, Thomas S. ; von Kodolitsch, Yskert ; Kutsche, Kerstin ; Rosenberger, Georg
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-08, Vol.21 (8), p.1832-1841
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Author / Creator:Kortüm, Fanny ; Rami Abou Jamra ; Malik Alawi ; Berry, Susan A ; Borck, Guntram ; Helbig, Katherine L ; Tang, Sha ; Huhle, Dagmar ; Korenke, Georg Christoph ; Hebbar, Malavika ; Shukla, Anju ; Girisha, Katta M ; Steinlin, Maja ; Waldmeier-Wilhelm, Sandra ; Montomoli, Martino ; Guerrini, Renzo ; Lemke, Johannes R ; Kutsche, Kerstin
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.695-708
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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Author / Creator:Di Lorenzo, Giorgia ; Westermann, Lena M. ; Yorgan, Timur A. ; Stürznickel, Julian ; Ludwig, Nataniel F. ; Ammer, Luise S. ; Baranowsky, Anke ; Ahmadi, Shiva ; Pourbarkhordariesfandabadi, Elham ; Breyer, Sandra R. ; Board, Tim N. ; Foster, Anne ; Mercer, Jean ; Tylee, Karen ; Velho, Renata Voltolini ; Schweizer, Michaela ; Renné, Thomas ; Braulke, Thomas ; Randon, Dévora N. ; Sperb-Ludwig, Fernanda ; de Camargo Pinto, Louise Lapagesse ; Moreno, Carolina Araujo ; Cavalcanti, Denise P. ; Amling, Michael ; Kutsche, Kerstin ; Winter, Dominic ; Muschol, Nicole M. ; Schwartz, Ida V. D. ; Rolvien, Tim ; Danyukova, Tatyana ; Schinke, Thorsten ; Pohl, Sandra
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2369-2377
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Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization o...
Author / Creator:von Kodolitsch, Yskert ; Kutsche, Kerstin
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-09, Vol.60 (9), p.465-466
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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Author / Creator:Bolz, Hanno ; von Brederlow, Benigna ; Ramírez, Alfredo ; Bryda, Elizabeth C. ; Kutsche, Kerstin ; Nothwang, Hans Gerd ; Seeliger, Mathias ; Cabrera, Maria del C.-Salcedó ; Vila, Manuel Caballeró ; Molina, Orfilio Pelaez ; Gal, Andreas ; Kubisch, Christian
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2001-01, Vol.27 (1), p.108-112
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Response to Calgani et al
Author / Creator:Zenker, Martin ; Kutsche, Kerstin
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2016-12, Vol.18 (12), p.1321-1321
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Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Author / Creator:Hecher, Laura ; Gorski-Alberts, Esther ; Begemann, Matthias ; Herwig, Johanna ; Lausberg, Eva ; Hillebrand, Georg ; Volk, Alexander E ; Kurth, Ingo ; Kraft, Florian ; Kutsche, Kerstin
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-09, Vol.61 (9), p.833-838
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Author / Creator:Schneeberger, Pauline E. ; Bierhals, Tatjana ; Neu, Axel ; Hempel, Maja ; Kutsche, Kerstin
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.12516-15, Article 12516
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Showing 1 to 20 of 59 results

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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

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A restricted spectrum of NRAS mutations causes Noonan syndrome

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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

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Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization o...

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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

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Response to Calgani et al

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Complex structural variation and nonsense variant in trans cause VPS50-related disorder

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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

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