Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
Get full text
Journal Article
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Worthmann, Anna, Ridder, Julius, Piel, Sharlaine Y. L., Evangelakos, Ioannis, Musfeldt, Melina, Voß, Hannah, O’Farrell, Marie, Fischer, Alexander W., Adak, Sangeeta, Sundd, Monica, Siffeti, Hasibullah, Haumann, Friederike, Kloth, Katja, Bierhals, Tatjana, Heine, Markus, Pertzborn, Paul, Pauly, Mira, Scholz, Julia-Josefine, Kundu, Suman, Fuh, Marceline M., Neu, Axel, Tödter, Klaus, Hempel, Maja, Knippschild, Uwe, Semenkovich, Clay F., Schlüter, Hartmut, Heeren, Joerg, Scheja, Ludger, Kubisch, Christian, Schlein, Christian
Published in Nature communications (02.01.2024)
Published in Nature communications (02.01.2024)
Get full text
Journal Article
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
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
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
Get full text
Journal Article
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort
Kloth, Katja, Obrecht, Denise, Sturm, Dominik, Pietsch, Torsten, Warmuth-Metz, Monika, Bison, Brigitte, Mynarek, Martin, Rutkowski, Stefan
Published in Frontiers in oncology (23.11.2021)
Published in Frontiers in oncology (23.11.2021)
Get full text
Journal Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor
Published in Neurogenetics (01.10.2021)
Published in Neurogenetics (01.10.2021)
Get full text
Journal Article
Options and limitations in applying the fistula classification by the International Study Group for Pancreatic Fistula
Gebauer, Florian, Kloth, Katja, Tachezy, Michael, Vashist, Yogesh K, Cataldegirmen, Guellue, Izbicki, Jakob R, Bockhorn, Maximilliam
Published in Annals of surgery (01.07.2012)
Published in Annals of surgery (01.07.2012)
Get more information
Journal Article
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole
Published in BMC medical genetics (08.04.2019)
Published in BMC medical genetics (08.04.2019)
Get full text
Journal Article
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, Kosaki, Kenjiro
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
Get full text
Journal Article
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Katja, Kloth, Inga, Vater, Ramona, Lindschau, Rau, Isabella, Almuth, Caliebe, Maria, Muschol Nicole
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
Get full text
Journal Article
Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype
Kresbach, Catena, Dorostkar, Mario M., Suwala, Abigail K., Wefers, Annika K., Schweizer, Leonille, Engertsberger, Lara, Bison, Brigitte, Mynarek, Martin, Kloth-Stachnau, Katja, Spohn, Michael, von Deimling, Andreas, Benesch, Martin, Hagel, Christian, Mautner, Viktor-F., Rutkowski, Stefan, Schüller, Ulrich
Published in Acta neuropathologica (01.06.2021)
Published in Acta neuropathologica (01.06.2021)
Get full text
Journal Article
16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome
Kloth, Katja, Renner, Sina, Burmester, Gunter, Steinemann, Doris, Pabst, Brigitte, Lorenz, Birgit, Simon, Ronald, Kolbe, Verena, Hempel, Maja, Rosenberger, Georg
Published in Clinical genetics (01.07.2019)
Published in Clinical genetics (01.07.2019)
Get full text
Journal Article
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5
Eggermann, Thomas, Kraft, Florian, Kloth, Katja, Klopocki, Eva, Hüning, Irina, Hempel, Maja, Kunstmann, Erdmute
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
Get full text
Journal Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Published in Nature communications (05.11.2018)
Published in Nature communications (05.11.2018)
Get full text
Journal Article
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Published in Nature genetics (01.07.2021)
Published in Nature genetics (01.07.2021)
Get full text
Journal Article
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46
Kloth, Katja, Cozma, Claudia, Bester, Maxim, Gerloff, Christian, Biskup, Saskia, Zittel, Simone
Published in European journal of medical genetics (01.09.2020)
Published in European journal of medical genetics (01.09.2020)
Get full text
Journal Article
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
Xu, Linda, Jensen, Hanne, Johnston, Jennifer J., Di Maria, Emilio, Kloth, Katja, Cristea, Ileana, Sapp, Julie C., Darling, Thomas N., Huryn, Laryssa A., Tranebjærg, Lisbeth, Cinotti, Elisa, Kubisch, Christian, Rødahl, Eyvind, Bruland, Ove, Biesecker, Leslie G., Houge, Gunnar, Bredrup, Cecilie
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
Get full text
Journal Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
Ven, Amelie T., Johannsen, Jessika, Kortüm, Fanny, Wagner, Matias, Tsiakas, Konstantinos, Bierhals, Tatjana, Lessel, Davor, Herget, Theresia, Kloth, Katja, Lisfeld, Jasmin, Scholz, Tasja, Obi, Nadia, Wortmann, Saskia, Prokisch, Holger, Kubisch, Christian, Denecke, Jonas, Santer, René, Hempel, Maja
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
Get full text
Journal Article