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Robin‐Tobias Jauss

Institute of Human Genetics

8H-index
31Paper Count
161Citation Count
Published Papers 12
Publication Date
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Monoallelic and Biallelic FOXP4 Variants Cause Short Stature, Dysmorphic Features, Neurodevelopmental, Heart, and Congenital Abnormalities
errnpj Genomic Medicine
IF4.8
err2026-08-13
err0
errOAAI
errEssa Alharby; Malak Ali Alghamdi; Abeer A. Alsofyani; Eissa A. Faqeih; Mohammed Saleh; Chaya N. Murali; Rachel Franciskovich; Jerica Lenberg; Jennifer Friedman; Robin-Tobias Jauss; Rami Abou Jamra; Sophie Rondeau; Sandrine Marlin; Daniel G. Calame; Arthur Sorlin; Jean-Paul Hermand; Mohammed Abdullah Alotaibi; Nada A. Almarghalani; Adriane Cardoso-Demartini; Laurana de Polli Cellin; Nathalia Lisboa Gomes; James R. Lupski; Amel Bouchatal; Julien Van Gils; Benjamin Dauriat; Khaled K. Abu-Amero; Alexander Augusto de Lima Jorge; Almohanad A. Alkayyal; Ahmad Bakur Mahmoud; Naif A. M. Almontashiri
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Neuartige Variante des NCSTN-Gens bei einer Frau mit familiärer Hidradenitis suppurativa
errJDDG: Journal der Deutschen Dermatologischen Gesellschaft
IF0
err2025-10-23
err0
errOAAI
errConrad Hempel; Sonja Grunewald; Till Mittank-Weidner; Jan-Christoph Simon; Franziska Schnabel; Robin-Tobias Jauss; Viktor Schnabel
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Overview and expansion of CEP85L-associated lissencephaly
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-09-01
err0
errOAAI
errSchumann, Isabell; Abou Jamra, Rami; Jauss, Robin-Tobias; Karnstedt, Maike; Specht, Ulrich; Zacher, Pia; Woermann, Friedrich; Yaron, Yuval; Popp, Bernt
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Novel variant of the NCSTN gene identified in a woman with hidradenitis suppurativa
errjournal der deutschen dermatologischen gesellschaft
IF0
err2025-06-04
err0
errOAAI
errConrad Hempel; Sonja Grunewald; Till Mittank-Weidner; Jan-Christoph Simon; Franziska Schnabel; Robin-Tobias Jauss; Viktor Schnabel
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MBOAT7 encephalopathy: Characterizing the neurology and epileptology
errEPILEPSIA
IF6.6
err2025-03-21
err0
errOAAI
errSebastian Ortiz De la Rosa; Valentina Rizzo; Robin-Tobias Jauss; Tobias Bartolomaeus; Maria Escolar; Geneviève Bernard; Ralitza Gavrilova
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The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
errHUMAN GENETICS
IF3.6
err2024-10-28
err0
errOAAI
errJauss, Robin-Tobias; Popp, Bernt; Bachmann, Joachim; Abou Jamra, Rami; Platzer, Konrad
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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2024-03-28
err3
errOAAI
errXu, Yuchen; Song, Rui; Perszyk, Riley E.; Chen, Wenjuan; Kim, Sukhan; Park, Kristen L.; Allen, James P.; Nocilla, Kelsey A.; Zhang, Jing; Xiangwei, Wenshu; Tankovic, Anel; McDaniels, Ellington D.; Sheikh, Rehan; Mizu, Ruth K.; Karamchandani, Manish M.; Hu, Chun; Kusumoto, Hirofumi; Pecha, Joseph; Cappuccio, Gerarda; Gaitanis, John; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Jauss, Robin-Tobias; Lee, Hyun Kyung; Bozarth, Xiuhua; Lynch, David R.; Helbig, Ingo; Pierson, Tyler Mark; Boerkoel, Cornelius F.; Myers, Scott J.; Lemke, Johannes R.; Benke, Timothy A.; Yuan, Hongjie; Traynelis, Stephen F.
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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-11-07
err5
errOAAI
errAllen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F.
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Clinical and functional consequences of GRIA variants in patients with neurological diseases
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2023-11-03
err1
errOAAI
errXiangWei, Wenshu; Perszyk, Riley E.; Liu, Nana; Xu, Yuchen; Bhattacharya, Subhrajit; Shaulsky, Gil H.; Smith-Hicks, Constance; Fatemi, Ali; Fry, Andrew E.; Chandler, Kate; Wang, Tao; Vogt, Julie; Cohen, Julie S.; Paciorkowski, Alex R.; Poduri, Annapurna; Zhang, Yuehua; Wang, Shuang; Wang, Yuping; Zhai, Qiongxiang; Fang, Fang; Leng, Jie; Garber, Kathryn; Myers, Scott J.; Jauss, Robin-Tobias; Park, Kristen L.; Benke, Timothy A.; Lemke, Johannes R.; Yuan, Hongjie; Jiang, Yuwu; Traynelis, Stephen F.
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On the phenology of protists: recurrent patterns reveal seasonal variation of protistan (Rhizaria: Cercozoa and Endomyxa) communities in tree canopies
errFEMS MICROBIOLOGY ECOLOGY
IF3.2
err2021-06-12
err9
errOAAI
errWalden, Susanne; Jauss, Robin-Tobias; Feng, Kai; Fiore-Donno, Anna Maria; Dumack, Kenneth; Schaffer, Stefan; Wolf, Ronny; Schlegel, Martin; Bonkowski, Michael
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From Forest Soil to the Canopy: Increased Habitat Diversity Does Not Increase Species Richness of Cercozoa and Oomycota in Tree Canopies
errFRONTIERS IN MICROBIOLOGY
IF4.5
err2020-12-22
err8
errOAAI
errJauss, Robin-Tobias; Walden, Susanne; Fiore-Donno, Anna Maria; Dumack, Kenneth; Schaffer, Stefan; Wolf, Ronny; Schlegel, Martin; Bonkowski, Michael
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Venomics of Remipede Crustaceans Reveals Novel Peptide Diversity and Illuminates the Venom's Biological Role
errTOXINS
IF4
err2017-07-26
err30
errOAAI
errvon Reumont, Bjom M.; Undheim, Eivind A. B.; Jauss, Robin-Tobias; Jenner, Ronald A.
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Research Directions

No research directions
Co-authors
Cooperation Journals
J
James R. Lupski
H-index: 144 · Papers: 1.1K
P
Pasquale Striano
H-index: 86 · Papers: 1.4K
S
Stephen F. Traynelis
H-index: 85 · Papers: 336
M
Michael Bonkowski
H-index: 77 · Papers: 347
F
Federico Zara
H-index: 76 · Papers: 547
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