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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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Book chapter / Article in edited volumes
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome (2024)
Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, et al.
Journal article
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024)
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al.
Journal article
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024)
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al.
Journal article, Erratum
Pathogenic PHIP Variants are Variably Associated With CAKUT (2024)
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al.
Journal article
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024)
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al.
Journal article
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024)
Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al.
Journal article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024)
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al.
Journal article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024)
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al.
Journal article
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023)
Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al.
Journal article
Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort (2023)
Reimer KC, Nadal J, Meiselbach H, Schmid M, Schultheiss UT, Kotsis F, Stockmann H, et al.
Journal article
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