Rachel Schot

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 9

Top Topics

Intellectual Disability

Top Venues

European journal of human genetics : EJHG

The Journal of experimental medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG 32 (3) (2024)
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG 32 (3) (2024)
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG 32 (3) (2024)
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG 32 (3) (2024)
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG (2024)
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, André Reis, Laurence Faivre, Julien Maraval, Ange-Line Bruel, Frédéric Tran Mau Them, Tobias B Haack, Ute Grasshoff, Veronka Horber, Rachel Schot, Marjon van Slegtenhorst, Martina Wilke, Tahsin Stefan Barakat
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. European journal of human genetics : EJHG (2024)
Young Wook Chun, Matthew Miyamoto, Charles H Williams, Leif R Neitzel, Maya Silver-Isenstadt, Adrian G Cadar, Daniela T Fuller, Daniel C Fong, Hanhan Liu, Robert Lease, Sungseek Kim, Mikako Katagiri, Matthew D Durbin, Kuo-Chen Wang, Tromondae K Feaster, Calvin C Sheng, M Diana Neely, Urmila Sreenivasan, Marcia Cortes-Gutierrez, Aloke V Finn, Rachel Schot, Grazia M S Mancini, Seth A Ament, Kevin C Ess, Aaron B Bowman, Zhe Han, David P Bichell, Yan Ru Su, Charles C Hong
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy. Circulation (2023)
Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS genetics 13 (5) (2017)
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D Speer, Zhi Li, Leontine M van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H Lequin, Johan M Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W W Brouwer, Wilfred F J Van IJcken, Marta Martín-Fernández, Irenaeus F M de Coo, Jeroen Dudink, Femke A T de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J Crow, Frans W Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M S Mancini
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. The Journal of experimental medicine 213 (7) (2016)