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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)
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Journal article
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A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020)
Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C
Journal article
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Journal article
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants (2020)
Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, et al.
Journal article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020)
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al.
Journal article
Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis (2020)
Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, et al.
Journal article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019)
Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al.
Journal article
MOLECULAR DIAGNOSIS OF KIDNEY TRANSPLANT FAILURE BY THE URINE (2019)
Knaup K, Wiesener A, Buettner-Herold M, Dieterle A, Morath C, Vondran FWR, Wald A, et al.
Conference contribution
Delineation of the clinical phenotype caused by de novo CLTC variants (2019)
Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Conference contribution
Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019)
Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al.
Conference contribution
Exploring the phenotypical spectrum of BRD4 defects (2019)
Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al.
Conference contribution
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