Katrin Hinderhofer - Publications, H-index & Citations

Katrin Hinderhofer

Institute of Human Genetics

30H指数

136论文数

3.2K被引数

收录论文 40

发表时间

Pathobiology and Genetics 病理生物学和遗传学

PNEUMOLOGIE

IF0

2025-10-01

PREAI

Eichstaedt, Christina A.; Olschewski, Andrea; Harbaum, Lars; Cordes, Sebastian; Dorfmueller, Peter; Foris, Vasile; Kuebler, Wolfgang M.; Kwapiszewska, Grazyna; Pullamsetti, Soni; Sommer, Natascha; Tabeling, Christoph; Weissmann, Norbert; Zoll, Anja; Hinderhofer, Katrin; Schermuly, Ralph T.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 作者更正: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现

Nature Genetics

IF0

2025-06-24

OAAI

Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner

Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of FMR1-Binding miR-323a-3p and the Modification of BMP/SMAD-Pathway Gene Expression in Human Granulosa Cells 超越重复：灰色区域等位基因在FMR1结合miR-323a-3p上调及BMP/SMAD通路基因表达修饰中的作用（人颗粒细胞）

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

IF4.9

2025-03-29

OAAI

Vilkaite, Adriana; Nguyen, Xuan Phuoc; Guezel, Cansu Tuerkan; Gottschlich, Lucas; Bender, Ulrike; Dietrich, Jens E.; Hinderhofer, Katrin; Strowitzki, Thomas; Rehnitz, Julia

SMAD5 as a novel gene for familial pulmonary arterial hypertension

EUROPEAN RESPIRATORY JOURNAL

IF21

2023-10-27

PREAI

Cao, Ding; Sirenko, Yuriy; Radchenko, Ganna; Gall, Henning; Ahmed, Ayat; Theiss, Susanne; Haas, Simon; Shaukat, Memoona; Sassmannshausen, Zoe; Benjamin, Nicola; Xanthouli, Panagiota; Harutyunova, Satenik; Egenlauf, Benjamin; Hinderhofer, Katrin; Gruenig, Ekkehard; Laugsch, Magdalena; Eichstaedt, Christina

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-11-15

OAAI

Kolvenbach, Caroline M.; Felger, Tim; Schierbaum, Luca; Thiffault, Isabelle; Pastinen, Tomi; Szczepanska, Maria; Zaniew, Marcin; Adamczyk, Piotr; Bayat, Allan; Yilmaz, Oeznur; Lindenberg, Tobias T.; Thiele, Holger; Hildebrandt, Friedhelm; Hinderhofer, Katrin; Moog, Ute; Hilger, Alina C.; Sullivan, Bonnie; Bartik, Lauren; Gnys, Piotr; Grote, Phillip; Odermatt, Benjamin; Reutter, Heiko M.; Dworschak, Gabriel C.

Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant 溶菌酶淀粉样变性-德国大型队列的报告和新型淀粉样蛋白生成溶菌酶基因变体的表征

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

IF7.4

2022-05-09

PREAI

Anker, Sophie; Hinderhofer, Katrin; Baur, Julian; Haupt, Christian; Roecken, Christoph; Beimler, Joerg; Zeier, Martin; Weiler, Markus; Wuehl, Elke; Kimmich, Christoph; Schoenland, Stefan; Hegenbart, Ute

Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY

IF4.7

2022-03-05

OAAI

Rehnitz, Julia; Messmer, Birgitta; Bender, Ulrike; Xuan Phuoc Nguyen; Germeyer, Ariane; Hinderhofer, Katrin; Strowitzki, Thomas; Capp, Edison

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2021-06-04

OAAI

Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C.; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A.; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A.

Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience 非地方性遗传性甲状腺素运载蛋白淀粉样变性伴多发性神经病的真实世界结果: 德国单一转诊中心20年的经验

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

IF7.4

2020-12-07

OAAI

Ungerer, Matthias N.; Hund, Ernst; Purrucker, Jan C.; Huber, Laura; Kimmich, Christoph; Siepen, Fabian aus dem; Hein, Selina; Kristen, Arnt, V; Hinderhofer, Katrin; Kollmer, Jennifer; Schoenland, Stefan; Hegenbart, Ute; Weiler, Markus

Genetic findings in patients with different forms of pulmonary hypertension

EUROPEAN RESPIRATORY JOURNAL

IF21

2020-10-28

PREAI

Eichstaedt, Christina; Sassmannshausen, Zoe; Gall, Henning; Ghofrani, Ardeschir; Seyfarth, Hans-Juergen; Lerche, Marianne; Halank, Michael; Xanthouli, Panagiota; Harutyunova, Satenik; Egenlauf, Benjamin; Milger-Kneidinger, Katrin; Rosenkrankz, Stefan; Ewert, Ralf; Lankeit, Mareike; Lange, Tobias; Hinderhofer, Katrin; Gruenig, Ekkehard

NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD (Jun, 10.1038/s42255-020-0215-8, 2020)

NATURE METABOLISM

IF20.8

2020-06-26

OAAI

Seimetz, Michael; Sommer, Natascha; Bednorz, Mariola; Pak, Oleg; Veith, Christine; Hadzic, Stefan; Gredic, Marija; Parajuli, Nirmal; Kojonazarov, Baktybek; Kraut, Simone; Wilhelm, Jochen; Knoepp, Fenja; Henneke, Ingrid; Pichl, Alexandra; Kanbagli, Zeki I.; Scheibe, Susan; Fysikopoulos, Athanasios; Wu, Cheng-Yu; Klepetko, Walter; Jaksch, Peter; Eichstaedt, Christina; Grunig, Ekkehard; Hinderhofer, Katrin; Geiszt, Miklos; Mueller, Niklas; Rezende, Flavia; Buchmann, Giulia; Wittig, Ilka; Hecker, Matthias; Hecker, Andreas; Padberg, Winfried; Dorfmueller, Peter; Gattenlohner, Stefan; Vogelmeier, Claus F.; Gunther, Andreas; Karnati, Srikanth; Baumgart-Vogt, Eveline; Schermuly, Ralph T.; Ghofrani, Hossein A.; Seeger, Werner; Schroder, Katrin; Grimminger, Friedrich; Brandes, Ralf P.; Weissmann, Norbert

NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD

NATURE METABOLISM

IF20.8

2020-06-08

PREAI

Seimetz, Michael; Sommer, Natascha; Bednorz, Mariola; Pak, Oleg; Veith, Christine; Hadzic, Stefan; Gredic, Marija; Parajuli, Nirmal; Kojonazarov, Baktybek; Kraut, Simone; Wilhelm, Jochen; Knoepp, Fenja; Henneke, Ingrid; Pichl, Alexandra; Kanbagli, Zeki, I; Scheibe, Susan; Fysikopoulos, Athanasios; Wu, Cheng-Yu; Klepetko, Walter; Jaksch, Peter; Eichstaedt, Christina; Gruenig, Ekkehard; Hinderhofer, Katrin; Geiszt, Miklos; Mueller, Niklas; Rezende, Flavia; Buchmann, Giulia; Wittig, Ilka; Hecker, Matthias; Hecker, Andreas; Padberg, Winfried; Dorfmueller, Peter; Gattenloehner, Stefan; Vogelmeier, Claus F.; Guenther, Andreas; Karnati, Srikanth; Baumgart-Vogt, Eveline; Schermuly, Ralph T.; Ghofrani, Hossein A.; Seeger, Werner; Schroeder, Katrin; Grimminger, Friedrich; Brandes, Ralf P.; Weissmann, Norbert

Genetic diagnostics in patients with chronic thromboembolic pulmonary hypertension

EUROPEAN RESPIRATORY JOURNAL

IF21

2019-11-21

PREAI

Eichstaedt, Christina; Verweyen, Jeremias; Song, Jie; Halank, Michael; Fischer, Christine; Marra, Alberto; Ewert, Ralph; Hinderhofer, Katrin; Gruenig, Ekkehard

New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

IF7.4

2019-05-10

PREAI

Hinderhofer, Katrin; Obermaier, Christian; Hegenbart, Ute; Schoenland, Stefan; Seidler, Marc; Sommer-Ort, Iris; Barth, Ulrike

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

FRONTIERS IN PHYSIOLOGY

IF3.4

2019-02-25

OAAI

Ott, Tim; Kaufmann, Lilian; Granzow, Martin; Hinderhofer, Katrin; Bartram, Claus R.; Theiss, Susanne; Seitz, Angelika; Paramasivam, Nagarajan; Schulz, Angela; Moog, Ute; Blum, Martin; Evers, Christina M.

Mutations in the bone morphogenic protein receptor 2 promoter in heritable pulmonary arterial hypertension

EUROPEAN RESPIRATORY JOURNAL

IF21

2018-11-19

PREAI

Song, Jie; Eichstaedt, Christina; Viales, Rebecca Rodriguez; Pan, Zixuan; Fischer, Christine; Hinderhofer, Katrin; Gruenig, Ekkehard

Common genetic basis for pulmonary arterial hypertension and high altitude pulmonary edema

EUROPEAN RESPIRATORY JOURNAL

IF21

2018-11-19

PREAI

Eichstaedt, Christina; Mairbaeurl, Heimo; Song, Jie; Benjamin, Nicola; Fischer, Christine; Hinderhofer, Katrin; Gruenig, Ekkehard

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY

IF4.7

2018-07-07

OAAI

Rehnitz, Julia; Alcoba, Diego D.; Brum, Ilma S.; Dietrich, Jens E.; Youness, Berthe; Hinderhofer, Katrin; Messmer, Birgitta; Freis, Alexander; Strowitzki, Thomas; Germeyer, Ariane

First identification of Kriippel-like factor 2 mutation in heritable pulmonary arterial hypertension

EUROPEAN RESPIRATORY JOURNAL

IF21

2017-12-06

PREAI

Eichstaedt, Christina; Song, Jie; Viales, Rebecca Rodriguez; Pan, Zixuan; Benjamin, Nicola; Fischer, Christine; Hinderhofer, Katrin; Hoeper, Marius; Ulrich, Silvia; Grunig, Ekkehard

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-11-01

139

OAAI

Kury, Sebastien; van Woerden, Geeske M.; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xenia; Towne, Meghan C.; Cho, Megan T.; Prescott, Trine E.; Ploeg, Melissa A.; Sanders, Stephan; Stessman, Holly A. F.; Pujol, Aurora; Ben Distel; Robak, Laurie A.; Bernstein, Jonathan A.; Denomme-Pichon, Anne-Sophie; Lesca, Gaetan; Sellars, Elizabeth A.; Berg, Jonathan; Carre, Wilfrid; Busk, Oyvind Lovold; van Bon, Bregje W. M.; Waugh, Jeff L.; Deardorff, Matthew; Hoganson, George E.; Bosanko, Katherine B.; Johnson, Diana S.; Dabir, Tabib; Holla, Oystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J.; Terhal, Paulien A.; Grange, Dorothy K.; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J.; Douglas, Jessica; Santani, Avni B.; Nesbitt, Addie I.; Helbig, Katherine L.; Andrews, Marisa V.; Begtrup, Amber; Tang, Sha; van Gassen, Koen L. I.; Juusola, Jane; Foss, Kimberly; Enns, Gregory M.; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H.; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B.; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia A. L.; Hahn, Sihoun; Brownstein, Catherine A.; Xia, Fan; Schmitt, Sebastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R.; Thies, Jenny; Peart-Vissers, Lisenka E. L. M.; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M.; Dubourg, Christele; Tan, Wen-Hann; Verbeek, Nienke E.; Granzow, Martin; Santen, Gijs W. E.; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W.; Kleefstra, Tjitske; Cogne, Benjamin; Petrovski, Slave; Retterer, Kyle; Eichler, Evan E.; Rosenfeld, Jill A.; Agrawal, Pankaj B.; Bezieau, Stephane; Odent, Sylvie; Elgersma, Ype; Mercier, Sandra

研究方向