Publications of M. Spielmann
All genres
Journal Article (33)
21.
Journal Article
58 (8), pp. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 22.
Journal Article
36 (8), pp. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 23.
Journal Article
52 (7), pp. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 24.
Journal Article
23 (6), pp. 1870 - 1873 (2015)
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 25.
Journal Article
161 (5), pp. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 26.
Journal Article
10 (5), pp. 833 - 839 (2015)
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 27.
Journal Article
95 (6), pp. 763 - 770 (2014)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 28.
Journal Article
86 (4), pp. 318 - 325 (2014)
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics: an international journal of genetics in medicine 29.
Journal Article
15, 15:423 (2014)
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 30.
Journal Article
6 (252), 252ra123 (2014)
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 31.
Journal Article
2014, 9:108 (2014)
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases 32.
Journal Article
91 (4), pp. 629 - 635 (2012)
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 33.
Journal Article
54 (4), pp. e441 - 5 (2011)
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet Preprint (2)
34.
Preprint
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. (2022)
35.
Preprint
Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson’s disease. (2020)