Stefan A Haas
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Explore the profile of Stefan A Haas including associated specialties, affiliations and a list of published articles.
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46
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4321
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Recent Articles
1.
Schindler M, Osterwalder M, Harabula I, Wittler L, Tzika A, Dechmann D, et al.
Development
. 2023 Jul;
150(17).
PMID: 37519269
Changes in gene expression represent an important source of phenotypic innovation. Yet how such changes emerge and impact the evolution of traits remains elusive. Here, we explore the molecular mechanisms...
2.
Ringel A, Szabo Q, Chiariello A, Chudzik K, Schopflin R, Rothe P, et al.
Cell
. 2022 Sep;
185(20):3689-3704.e21.
PMID: 36179666
Regulatory landscapes drive complex developmental gene expression, but it remains unclear how their integrity is maintained when incorporating novel genes and functions during evolution. Here, we investigated how a placental...
3.
Real F, Haas S, Franchini P, Xiong P, Simakov O, Kuhl H, et al.
Science
. 2020 Oct;
370(6513):208-214.
PMID: 33033216
Linking genomic variation to phenotypical traits remains a major challenge in evolutionary genetics. In this study, we use phylogenomic strategies to investigate a distinctive trait among mammals: the development of...
4.
Chiou T, Long P, Schumann-Gillett A, Kanamarlapudi V, Haas S, Harvey K, et al.
Front Mol Neurosci
. 2019 Mar;
12:60.
PMID: 30914922
The recruitment of inhibitory GABA receptors to neuronal synapses requires a complex interplay between receptors, neuroligins, the scaffolding protein gephyrin and the GDP-GTP exchange factor collybistin (CB). Collybistin is regulated...
5.
Frints S, Ozanturk A, Rodriguez Criado G, Grasshoff U, de Hoon B, Field M, et al.
Mol Psychiatry
. 2018 May;
24(11):1748-1768.
PMID: 29728705
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We...
6.
George J, Walter V, Peifer M, Alexandrov L, Seidel D, Leenders F, et al.
Nat Commun
. 2018 Mar;
9(1):1048.
PMID: 29535388
Pulmonary large-cell neuroendocrine carcinomas (LCNECs) have similarities with other lung cancers, but their precise relationship has remained unclear. Here we perform a comprehensive genomic (n = 60) and transcriptomic (n ...
7.
Niturad C, Lev D, Kalscheuer V, Charzewska A, Schubert J, Lerman-Sagie T, et al.
Brain
. 2017 Oct;
140(11):2879-2894.
PMID: 29053855
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased...
8.
Skopkova M, Hennig F, Shin B, Turner C, Stanikova D, Brennerova K, et al.
Hum Mutat
. 2017 Jan;
38(4):409-425.
PMID: 28055140
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link...
9.
Kalscheuer V, James V, Himelright M, Long P, Oegema R, Jensen C, et al.
Front Mol Neurosci
. 2016 Jan;
8:85.
PMID: 26793055
Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing approaches. To date, more than 100 human X chromosome genes involved...
10.
Kumar R, Corbett M, van Bon B, Gardner A, Woenig J, Jolly L, et al.
Hum Mol Genet
. 2015 Oct;
24(25):7171-81.
PMID: 26443594
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the...