C
Carl E.G. Bruder
Researcher at University of Alabama at Birmingham
Publications - 20
Citations - 1521
Carl E.G. Bruder is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Segmental duplication & Gene. The author has an hindex of 15, co-authored 20 publications receiving 1476 citations. Previous affiliations of Carl E.G. Bruder include University of Louisville & Southern Research Institute.
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Journal ArticleDOI
Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
Carl E.G. Bruder,Arkadiusz Piotrowski,Antoinet C.J. Gijsbers,Robin Andersson,Stephen W. Erickson,Teresita Díaz de Ståhl,Uwe Menzel,Johanna Sandgren,Desiree von Tell,Andrzej Poplawski,Michael J. Crowley,Chiquito J. Crasto,E. Christopher Partridge,Hemant K. Tiwari,David B. Allison,Jan Komorowski,Gert-Jan B. van Ommen,Dorret I. Boomsma,Nancy L. Pedersen,Johan T. den Dunnen,Karin Wirdefeldt,Jan P. Dumanski,Jan P. Dumanski +22 more
TL;DR: It is suggested that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci and that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
Journal ArticleDOI
Somatic mosaicism for copy number variation in differentiated human tissues.
Arkadiusz Piotrowski,Arkadiusz Piotrowski,Carl E.G. Bruder,Robin Andersson,Teresita Díaz de Ståhl,Uwe Menzel,Johanna Sandgren,Andrzej Poplawski,Desiree von Tell,Chiquito J. Crasto,Adam Bogdan,Rafal Bartoszewski,Zsuzsa Bebok,Maciej Krzyżanowski,Zbigniew Jankowski,E. Christopher Partridge,Jan Komorowski,Jan P. Dumanski,Jan P. Dumanski +18 more
TL;DR: The results indicate that humans are commonly affected by somatic mosaicism for stochastic CNVs, which occur in a substantial fraction of cells, and biobanks should consider sampling multiple tissues to better address mosaicism in the studies of somatic disorders.
Journal ArticleDOI
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
Patrick G. Buckley,Kiran Kumar Mantripragada,Magdalena Benetkiewicz,Isabel Tapia-Páez,Teresita Díaz de Ståhl,Magnus Rosenquist,Haider Ali,Caroline Jarbo,Cecilia de Bustos,Carina Hirvelä,Birgitta Sinder Wilén,Ingegerd Fransson,Charlotte Thyr,Britt-Inger Johnsson,Carl E.G. Bruder,Uwe Menzel,Martin Hergersberg,Nils Mandahl,Elisabeth Blennow,Anna Wedell,David Beare,John E. Collins,Ian Dunham,Donna G. Albertson,Daniel Pinkel,Boris C. Bastian,A. Fawad Faruqi,Roger S. Lasken,Koichi Ichimura,V. Peter Collins,Jan P. Dumanski +30 more
TL;DR: The first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation and comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome are constructed.
Journal ArticleDOI
Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells.
Anders Enjin,Nadine Rabe,Stan T. Nakanishi,Anna Vallstedt,Henrik Gezelius,Fatima Memic,Magnus Lind,Tord A. Hjalt,Warren G. Tourtellotte,Carl E.G. Bruder,Gregor Eichele,Patrick J. Whelan,Klas Kullander +12 more
TL;DR: Evidence is presented that chondrolectin (Chodl) is expressed by fast motor neurons and that estrogen‐related receptor β (ERRβ) is a candidate marker for slow motor neurons, and paired‐like homeodomain transcription factor 2 (Pitx2) as a marker for cholinergic partition cells.
Journal ArticleDOI
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH
Kiran Kumar Mantripragada,Ann-Charlotte Thuresson,Arkadiusz Piotrowski,T. Diaz de Stahl,Uwe Menzel,Gintautas Grigelionis,Rosalie E. Ferner,Sian Wyn Griffiths,Lars Bolund,Victor F. Mautner,M. Nordling,Eric Legius,David Vetrie,Niklas Dahl,Ludwine Messiaen,Meena Upadhyaya,Carl E.G. Bruder,Jan P. Dumanski +17 more
TL;DR: The construction and application of the first NF1 locus specific microarray is reported, covering 2.24 Mb of 17q11, using a non-redundant approach for array design, and it is shown that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1, might represent a novel hot spot for deletions.