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Prof. Dr. André Wiesmann da Silva Reis
List of publications:
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Lehrstuhl für Humangenetik
Award(s)
(2)
Project Leads
(4)
Project Memberships
(2)
Publications
(219)
Types of publications
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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Conference contribution
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Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020)
Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al.
Conference contribution
Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020)
Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution
Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020)
Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT
Conference contribution
Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020)
Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution
Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020)
Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R
Conference contribution
Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Conference contribution
A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020)
Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C
Conference contribution
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases (2020)
Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, et al.
Journal article
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020)
Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al.
Journal article
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020)
Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Wiesmann da Silva Reis A, Lie DC, Winner B, Turan S
Journal article, Original article
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