Vera M. Kalscheuer
AuthID: R-00F-QE7
1
TITLE: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
AUTHORS: Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; ...More
PUBLISHED: 2022, SOURCE: MOLECULAR PSYCHIATRY
AUTHORS: Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; ...More
PUBLISHED: 2022, SOURCE: MOLECULAR PSYCHIATRY
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome Full Text
AUTHORS: Lusine Nazaryan Petersen; Ines R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup;
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 8
AUTHORS: Lusine Nazaryan Petersen; Ines R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup;
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 8
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Redefining the MED13L syndrome
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
5
TITLE: Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
AUTHORS: Lionel Van Maldergem; Qingming M Hou; Vera M Kalscheuer; Marlene Rio; Martine Doco Fenzy; Ana Medeira; Arjan P M de Brouwer; Christelle Cabrol; Stefan A Haas; Pierre Cacciagli; Sebastien Moutton; Emilie Landais; Jacques Motte; Laurence Colleaux; Celine Bonnet; Laurent Villard; Juliette Dupont; Heng Ye Man;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 16
AUTHORS: Lionel Van Maldergem; Qingming M Hou; Vera M Kalscheuer; Marlene Rio; Martine Doco Fenzy; Ana Medeira; Arjan P M de Brouwer; Christelle Cabrol; Stefan A Haas; Pierre Cacciagli; Sebastien Moutton; Emilie Landais; Jacques Motte; Laurence Colleaux; Celine Bonnet; Laurent Villard; Juliette Dupont; Heng Ye Man;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 16
