U
U.M.M. Bauer
Researcher at Charité
Publications - 4
Citations - 380
U.M.M. Bauer is an academic researcher from Charité. The author has contributed to research in topics: Exome & Copy-number variation. The author has an hindex of 3, co-authored 4 publications receiving 257 citations.
Papers
More filters
Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7
K. van Engelen,Alex V. Postma,J. B A van de Meerakker,J.W. Roos-Hesselink,A. T J M Helderman-Van den Enden,Hubert W. Vliegen,Thahira Rahman,Marieke J.H. Baars,J. W. Sels,U.M.M. Bauer,Thomas Pickardt,Silke Sperling,Antoon F.M. Moorman,Bernard Keavney,Judith A. Goodship,Sabine Klaassen,Sabine Klaassen,B.J.M. Mulder +17 more
TL;DR: The association of MYH7 mutations with Ebstein’s anomaly and LVNC and its implications for the clinical care for patients and their family members are discussed.
Posted ContentDOI
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain,Anna Wilsdon,Jeroen Breckpot,Jose M. G. Izarzugaza,Tomas W Fitzgerald,Kahlert Anne-Karin,Alejandro Sifrim,Florian Wuennemann,Yasset Perez-Riverol,Hashim Abdul-Khaliq,Mads Bak,Anne S. Bassett,John W. Belmont,Woody D Benson,Felix Berger,Ingo Daehnert,Koenraad Devriendt,Sven Dittrich,Piers E.F. Daubeney,Vidu Garg,Karl Hackmann,Kirstin Hoff,Philipp Hofmann,Gregor Dombrowsky,Thomas Pickardt,U.M.M. Bauer,Bernard Keavney,Sabine Klaassen,Hans-Heiner Kramer,Christian R. Marshall,Dianna M. Milewicz,Scott Lemaire,Joe Coselli,Michael E. Mitchell,Aoy Tomita-Mitchell,Siddharth K. Prakash,Karl Stamm,Alexandre F.R. Stewart,Candice K. Silversides,Reiner Siebert,Brigitte Stiller,Jill A. Rosenfeld,Inga Vater,Alex V. Postma,Almuth Caliebe,David Brook,Gregor Andelfinger,Matthew E. Hurles,Bernard Thienpont,Lars Allan Larsen,Marc-Phillip Hitz +50 more
TL;DR: A systems level analysis revealed shared contribution of CNV deletions and DNMs in CHD probands, affecting protein-protein interaction networks involved in Notch signaling pathway, heart morphogenesis, DNA repair and cilia/centrosome function.
Journal ArticleDOI
Evaluation of contraceptive methods in women with congenital heart disease in Germany, Hungary and Japan
Marc-André Koerten,András Szatmári,Koichiro Niwa,Zoltán Ruzsa,Nicole Nagdyman,Eva Niggemeyer,Brigitte Peters,Ktm Schneider,Bettina Kuschel,Yoshiko Mizuno,Felix Berger,U.M.M. Bauer,Harald Kaemmerer +12 more
TL;DR: Most women with CHD use CM, there are differences between the participating countries, and both the methods' "safety" as well as the maternal cardiovascular risk are important.