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
11.
Hackmann K, Rump A, Haas S, Lemke J, Fryns J, Tzschach A, et al.
Am J Med Genet A
. 2015 Sep;
170A(1):94-102.
PMID: 26358559
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was...
12.
Zanni G, Kalscheuer V, Friedrich A, Barresi S, Alfieri P, Di Capua M, et al.
Hum Mutat
. 2015 Aug;
36(12):1155-8.
PMID: 26290468
RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense...
13.
Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders M, et al.
Am J Hum Genet
. 2015 Aug;
97(2):343-52.
PMID: 26235985
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males...
14.
George J, Lim J, Jang S, Cun Y, Ozretic L, Kong G, et al.
Nature
. 2015 Jul;
524(7563):47-53.
PMID: 26168399
We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest human cancers. In nearly all the tumours analysed we found bi-allelic inactivation of TP53...
15.
Kumar R, Corbett M, van Bon B, Woenig J, Weir L, Douglas E, et al.
Am J Hum Genet
. 2015 Jul;
97(2):302-10.
PMID: 26166480
Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous....
16.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
Lupianez D, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, et al.
Cell
. 2015 May;
161(5):1012-1025.
PMID: 25959774
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of TADs can rewire long-range regulatory architecture and result in pathogenic phenotypes. We show that distinct...
17.
Fernandez-Cuesta L, Sun R, Menon R, George J, Lorenz S, Meza-Zepeda L, et al.
Genome Biol
. 2015 Feb;
16:7.
PMID: 25650807
Genomic translocation events frequently underlie cancer development through generation of gene fusions with oncogenic properties. Identification of such fusion transcripts by transcriptome sequencing might help to discover new potential therapeutic...
18.
Wilson G, Sim J, McLean C, Giannandrea M, Galea C, Riseley J, et al.
Am J Hum Genet
. 2014 Dec;
95(6):729-35.
PMID: 25434005
Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an Australian family with three males displaying clinical...
19.
Vulto-van Silfhout A, Nakagawa T, Bahi-Buisson N, Haas S, Hu H, Bienek M, et al.
Hum Mutat
. 2014 Nov;
36(1):106-17.
PMID: 25385192
Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified...
20.
Willemsen M, Ba W, Wissink-Lindhout W, de Brouwer A, Haas S, Bienek M, et al.
J Med Genet
. 2014 May;
51(7):487-94.
PMID: 24812067
Introduction: Kinesin superfamily (KIF) genes encode motor proteins that have fundamental roles in brain functioning, development, survival and plasticity by regulating the transport of cargo along microtubules within axons, dendrites...