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Dr. med. Miriam Reuter
List of publications:
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Institute of Human Genetics
Publications
(15)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Conference contribution
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Journal article
Genome sequencing in families with congenital limb malformations (2021)
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al.
Journal article
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
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
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 (2017)
Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching P, Krumbiegel M, et al.
Journal article
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment (2017)
Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C
Journal article
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum (2017)
Reuter M, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, et al.
Journal article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017)
Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al.
Journal article
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (2016)
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, et al.
Journal article, Erratum
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