Publikationen von Malte Spielmann
Alle Typen
Zeitschriftenartikel (34)
1.
Zeitschriftenartikel
2022 (2022)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 2.
Zeitschriftenartikel
2021, awab446 (2021)
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 3.
Zeitschriftenartikel
140, S. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 4.
Zeitschriftenartikel
108 (9), S. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 5.
Zeitschriftenartikel
113 (7), S. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 6.
Zeitschriftenartikel
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
7.
Zeitschriftenartikel
370 (6518), eaba7721 (2020)
A human cell atlas of fetal gene expression. Science 8.
Zeitschriftenartikel
22 (10), e19263 (2020)
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR) 9.
Zeitschriftenartikel
Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson's disease. medRxiv (The Preprint Server for health sciences.) (2020)
10.
Zeitschriftenartikel
106 (6), S. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 11.
Zeitschriftenartikel
20, S. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 12.
Zeitschriftenartikel
50 (10), S. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 13.
Zeitschriftenartikel
19 (7), S. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 14.
Zeitschriftenartikel
20 (6), S. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 15.
Zeitschriftenartikel
538 (7624), S. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 16.
Zeitschriftenartikel
25 (R2), S. R157 - R165 (2016)
Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 17.
Zeitschriftenartikel
24 (8), S. 1132 - 1136 (2016)
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 18.
Zeitschriftenartikel
170A (5), S. 1202 - 1207 (2016)
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 19.
Zeitschriftenartikel
32 (4), S. 225 - 237 (2016)
Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 20.
Zeitschriftenartikel
170 (3), S. 615 - 621 (2016)
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A