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C

Christian Kubisch

Institute of Human Genetics

74H-index
327Paper Count
2.3WCitation Count
Published Papers 150
Publication Date
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A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling
errHuman Genetics
IF3.6
err2026-07-04
err0
errOAAI
errGabriele Loers; Selen Cangüzel; Sebastian Rading; Christian Kubisch; Meliha Karsak
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Time dependent outcomes modeling in a real-world analysis of the molecular tumor board at University Cancer Center Hamburg (2016-2022)
errOncologist
IF4.2
err2026-05-01
err0
PREAI
errVelthaus-Rusik, Janna-Lisa; Weller, Jan Frederic; Hoshaber, Melisa; Schmidt, Benjamin; Albers-Leischner, Corinna; Kriegs, Malte; Loges, Sonja; Bartels, Stefan; Schluter, Catarina; Simon, Ronald; Volk, Alexander E.; Kubisch, Christian; Uckert, Frank; Riemann, Layla; Weisel, Katja; Von Amsberg, Gunhild; Alsdorf, Winfried; Bokemeyer, Carsten; Christopeit, Maximilian
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Genetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm
errEuropean Heart Journal
IF35.6
err2026-02-01
err0
PREAI
errVon Kodolitsch, Yskert; Olfe, Jakob; Debus, Eike Sebastian; Kirchhof, Paulus; Mir, Thomas S.; Preuss, Mark; Gehle, Petra; Kutsche, Kerstin; Kubisch, Christian; Robinson, Peter N.; Willecke, Florian; Schon, Gerhard; Rybczynski, Meike
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errSave
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-12-01
err1
errOAAI
errNauth, Theresa; Philipp, Melanie; Renner, Sina; Burkhalter, Martin D.; Schuler, Helke; Saygi, Ceren; Handler, Kristian; Siebels, Bente; Busch, Alice; Mair, Thomas; Rickassel, Verena; Deden, Sophia; Hoffer, Konstantin; Olfe, Jakob; Mir, Thomas S.; von Kodolitsch, Yskert; Girdauskas, Evaldas; Rybczynski, Meike; Kriegs, Malte; Voss, Hannah; Sauvigny, Thomas; Spielmann, Malte; Alawi, Malik; Krasemann, Susanne; Kubisch, Christian; Demal, Till J.; Rosenberger, Georg
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Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation
errNEUROLOGY-GENETICS
IF3.7
err2025-10-01
err0
errOAAI
errvan der Ven, Amelie T.; Hempel, Maja; Kruse, Claas; Blohm, Martin; Grolle, Benjamin; Kubisch, Christian; Lessel, Davor
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errSave
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAxel 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
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2024-07-01
err4
errOAAI
errPolovitskaya, Maya M.; Rana, Tanushka; Ullrich, Kurt; Murko, Simona; Bierhals, Tatjana; Vogt, Guido; Stauber, Tobias; Kubisch, Christian; Santer, Rene; Jentsch, Thomas J.
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
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Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
errNATURE COMMUNICATIONS
IF15.7
err2024-01-02
err8
errOAAI
errWorthmann, 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; Toedter, Klaus; Hempel, Maja; Knippschild, Uwe; Semenkovich, Clay F.; Schlueter, Hartmut; Heeren, Joerg; Scheja, Ludger; Kubisch, Christian; Schlein, Christian
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errSave
Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)
errESC HEART FAILURE
IF3.7
err2023-11-15
err2
errOAAI
errKeil, Laura; Berisha, Filip; Ritter, Stella; Skibowski, Johanna; Subramanian, Hariharan; Nikolaev, Viacheslav O.; Kubisch, Christian; Woitschach, Rixa; Fabritz, Larissa; Twerenbold, Raphael; Blankenberg, Stefan; Weidemann, Soeren; Zeller, Tanja; Kirchhof, Paulus; Reichart, Daniel; Magnussen, Christina
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AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-09-01
err5
errOAAI
errTerhal, Paulien; Venhuizen, Anton J.; Lessel, Davor; Tan, Wen-Hann; Alswaid, Abdulrahman; Gruen, Regina; Alzaidan, Hamad I.; von Kroge, Simon; Ragab, Nada; Hempel, Maja; Kubisch, Christian; Novais, Eduardo; Cristobal, Alba; Tripolszki, Kornelia; Bauer, Peter; Fischer-Zirnsak, Bjorn; Nievelstein, Rutger A. J.; van Dijk, Atty; Nikkels, Peter; Oheim, Ralf; Hahn, Heidi; Bertoli-Avella, Aida; Maurice, Madelon M.; Kornak, Uwe
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Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor
errANNALS OF NEUROLOGY
IF7.7
err2023-08-07
err21
errOAAI
errWinsvold, Bendik; Harder, Aster V. E. A.; Ran, Caroline; Chalmer, Mona; Dalmasso, Maria Carolina; Ferkingstad, Egil; Tripathi, Kumar Parijat; Bacchelli, Elena; Borte, Sigrid; Fourier, Carmen S.; Petersen, Anja H.; Vijfhuizen, Lisanne; Magnusson, Sigurdur; O'Connor, Emer; Bjornsdottir, Gyda; Happola, Paavo; Wang, Yen-Feng; Callesen, Ida; Kelderman, Tim; Gallardo, Victor J.; de Boer, Irene; Olofsgard, Felicia Jennysdotter; Heinze, Katja; Lund, Nunu; Thomas, Laurent F.; Hsu, Chia-Lin; Pirinen, Matti; Hautakangas, Heidi; Ribases, Marta; Guerzoni, Simona; Sivakumar, Prasanth; Yip, Janice; Heinze, Axel; Kucukali, Fahri B.; Ostrowski, Sisse S.; Pedersen, Ole E.; Kristoffersen, Espen S.; Martinsen, Amy E.; Artigas, Maria S.; Lagrata, Susie; Cainazzo, Maria Michela; Adebimpe, Joycee; Quinn, Olivia; Goebel, Carl E.; Cirkel, Anna; Volk, Alexander; Heilmann-Heimbach, Stefanie E.; Skogholt, Anne Heidi; Gabrielsen, Maiken E.; Wilbrink, Leopoldine A.; Danno, Daisuke; Mehta, Dwij R.; Guobjartsson, Daniel F.; Rosendaal, Frits R.; van Dijk, Ko Willems; Fronczek, Rolf A.; Wagner, Michael; Scherer, Martin; Goebel, Hartmut A.; Sleegers, Kristel; Sveinsson, Olafur; Pani, Luca; Zoli, Michele; Ramos-Quiroga, Josep A.; Dardiotis, Efthimios; Steinberg, Anna; Riedel-Heller, Steffi; Sjostrand, Christina; Thorgeirsson, Thorgeir E.; Stefansson, Hreinn; Southgate, Laura; Trembath, Richard C.; Vandrovcova, Jana; Noordam, Raymond; Paemeleire, Koen H.; Stefansson, Kari; Fann, Cathy Shen-Jang; Waldenlind, Elisabet; Tronvik, Erling; Jensen, Rigmor H.; Chen, Shih-Pin; Houlden, Henry; Terwindt, Gisela C.; Kubisch, Christian; Maestrini, Elena; Vikelis, Michail; Pozo-Rosich, Patricia; Belin, Andrea C.; Matharu, Manjit; van den Maagdenberg, Arn M. J. M.; Hansen, Thomas F.; Ramirez, Alfredo; Zwart, John-Anker
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Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: A cross-sectional study
errJOURNAL OF PSYCHOSOMATIC RESEARCH
IF3.3
err2023-06-01
err0
PREAI
errUhlenbusch, N.; Mund, M.; Rillig, F.; Weiler-Normann, C.; Herget, T.; Kubisch, C.; Loewe, B.; Schramm, C.
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errSave
Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-04-14
err7
errOAAI
errMund, Meike; Uhlenbusch, Natalie; Rillig, Franziska; Weiler-Normann, Christina; Herget, Theresia; Kubisch, Christian; Loewe, Bernd; Schramm, Christoph
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errSave
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
errHUMAN MOLECULAR GENETICS
IF3.2
err2022-10-27
err7
PREAI
errChepurwar, Shashank; von Loh, Sarah M.; Wigger, Daniela C.; Neef, Jakob; Frommolt, Peter; Beutner, Dirk; Lang-Roth, Ruth; Kubisch, Christian; Strenzke, Nicola; Volk, Alexander E.
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errSave
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2022-03-18
err4
errOAAI
errReuter, Miriam S.; Zech, Michael; Hempel, Maja; Altmueller, Janine; Heung, Tracy; Poelsler, Laura; Santer, Rene; Thiele, Holger; Trost, Brett; Kubisch, Christian; Scherer, Stephen W.; Rudnik-Schoneborn, Sabine; Bassett, Anne S.; Lessel, Davor
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errSave
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
errSCIENTIFIC REPORTS
IF3.9
err2022-03-16
err3
errOAAI
errDemal, Till Joscha; Scholz, Tasja; Schueler, Helke; Olfe, Jakob; Froehlich, Anja; Speth, Fabian; von Kodolitsch, Yskert; Mir, Thomas S.; Reichenspurner, Hermann; Kubisch, Christian; Hempel, Maja; Rosenberger, Georg
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errSave
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
errHUMAN GENETICS
IF3.6
err2021-12-14
err11
errOAAI
errKreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Loebel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M.; Lessel, Davor
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Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia
errANNALS OF NEUROLOGY
IF7.7
err2021-10-14
err9
errOAAI
errSchob, Claudia; Hempel, Maja; Safka Brozkova, Dana; Jiang, Huafang; Kim, Soo Yeon; Batzir, Nurit Assia; Orenstein, Naama; Bierhals, Tatjana; Johannsen, Jessika; Uhrova Meszarosova, Anna; Chae, Jong-Hee; Seeman, Pavel; Woidy, Mathias; Fang, Fang; Kubisch, Christian; Kindler, Stefan; Denecke, Jonas
errShare
errSave

Research Directions

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Co-authors
Cooperation Journals
G
George Davey Smith
H-index: 276 · Papers: 4.3K
C
Cornelia M. van Duijn
H-index: 238 · Papers: 1.9K
A
André G. Uitterlinden
H-index: 234 · Papers: 2.0K
P
Paul M. Ridker
H-index: 226 · Papers: 1.4K
M
Mark J. Daly
H-index: 224 · Papers: 1.2K
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