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Katja Kloth
University of Hamburg
18Publications
3H-index
21Citations
Publications 19
Newest
#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Matthis Synofzik (University of Tübingen)H-Index: 37
Last.Nicole Weisschuh (University of Tübingen)H-Index: 22
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Background Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype.
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#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Justine RousseauH-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
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The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
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Last.Jonas DeneckeH-Index: 22
view all 6 authors...
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#2Jessika JohannsenH-Index: 6
Last.Jonas DeneckeH-Index: 22
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#1Sina Renner (UHH: University of Hamburg)H-Index: 1
#2Helke SchülerH-Index: 4
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
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Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management. We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity. We identified 1 pathogen...
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#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Sina Renner (UHH: University of Hamburg)H-Index: 1
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 10 authors...
2 CitationsSource
#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last.Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 8 authors...
Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. In this study, we report two individuals with biallelic missense variants in SMAD6 and a complex cardiac phenotype. Trio exome sequencing in Proband 1, a male who had aortic isthmus stenosis, revealed the homozygous SMAD6 variant p.(Ile466Thr). He also had mild intellectual d...
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#1Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last.Jonas Denecke (UHH: University of Hamburg)H-Index: 6
view all 8 authors...
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#1Katja KlothH-Index: 3
#2Sina RennerH-Index: 1
Last.Georg RosenbergerH-Index: 15
view all 10 authors...
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