Niels Tommerup
AuthID: R-00G-3MF
1
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 WOS2
TITLE: NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers Full Text
AUTHORS: Niels Tommerup; Ana Carolina Fonseca; Mana Mehrjouy; Malene B Rasmussen; Iben Bache; Christina Halgren; Peter Kroisel; Susanna Midyan; Joris Vermeesch; Angela M Vianna Morgante; Kikue T Abe; Danilo Moretti Ferreira; Giorgio Paskulin; Lyudmila Angelova; Evica Rajcan Separovic; Carolina Sismani; Zdenek Sedlacek; Christina Fagerberg; Karen Brondum Nielsen; Ida Vogel; ...More
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
AUTHORS: Niels Tommerup; Ana Carolina Fonseca; Mana Mehrjouy; Malene B Rasmussen; Iben Bache; Christina Halgren; Peter Kroisel; Susanna Midyan; Joris Vermeesch; Angela M Vianna Morgante; Kikue T Abe; Danilo Moretti Ferreira; Giorgio Paskulin; Lyudmila Angelova; Evica Rajcan Separovic; Carolina Sismani; Zdenek Sedlacek; Christina Fagerberg; Karen Brondum Nielsen; Ida Vogel; ...More
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
INDEXED IN: WOS
WOS3
TITLE: Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
AUTHORS: Malene B Rasmussen; Jakob V Nielsen; Charles M Loureno; Joana B Melo; Christina Halgren; Camila V L Geraldi; Wilson Marques; Guilherme R Rodrigues; Mads Thomassen; Mads Bak; Claus Hansen; Susana I Ferreira; Margarida Venancio; Karen F Henriksen; Allan Lind Thomsen; Isabel M Carreira; Niels A Jensen; Niels Tommerup;
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 9
AUTHORS: Malene B Rasmussen; Jakob V Nielsen; Charles M Loureno; Joana B Melo; Christina Halgren; Camila V L Geraldi; Wilson Marques; Guilherme R Rodrigues; Mads Thomassen; Mads Bak; Claus Hansen; Susana I Ferreira; Margarida Venancio; Karen F Henriksen; Allan Lind Thomsen; Isabel M Carreira; Niels A Jensen; Niels Tommerup;
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 9
4
TITLE: A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia Full Text
AUTHORS: Mette Gilling; Marlene Briciet Lauritsen; Morten Moller; Karen Friis Henriksen; Astrid Vicente ; Guiomar Oliveira ; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brondum Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tuemer; Niels Tommerup;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 3
AUTHORS: Mette Gilling; Marlene Briciet Lauritsen; Morten Moller; Karen Friis Henriksen; Astrid Vicente ; Guiomar Oliveira ; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brondum Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tuemer; Niels Tommerup;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 3
