Publikationen von Malte Spielmann
Alle Typen
Zeitschriftenartikel (39)
1.
Zeitschriftenartikel
623 (7988), S. 772 - 781 (2023)
Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 2.
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7 (21), S. 6520 - 6531 (2023)
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology. Blood Advances 3.
Zeitschriftenartikel
14 (1), 2034 (2023)
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 4.
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14, 1475 (2023)
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. Nature Communications 5.
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614, S. 564 - 571 (2023)
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 6.
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13, 6470 (2022)
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 7.
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24 (9), S. 1927 - 1940 (2022)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 8.
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145 (3), S. 964 - 978 (2022)
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 9.
Zeitschriftenartikel
140, S. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 10.
Zeitschriftenartikel
108 (9), S. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 11.
Zeitschriftenartikel
113 (7), S. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 12.
Zeitschriftenartikel
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
13.
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370 (6518), eaba7721 (2020)
A human cell atlas of fetal gene expression. Science 14.
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) 15.
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 16.
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20, S. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 17.
Zeitschriftenartikel
50 (10), S. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 18.
Zeitschriftenartikel
19 (7), S. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 19.
Zeitschriftenartikel
20 (6), S. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 20.
Zeitschriftenartikel
538 (7624), S. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature