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Dr. med. Melissa Pauly
List of publications:
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Institute of Human Genetics
Publications
(8)
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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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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
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
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023)
Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al.
Journal article
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023)
Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al.
Journal article
SRD5A3-CDG: Twins with an intragenic tandem duplication (2022)
Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al.
Journal article
Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022)
Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al.
Conference contribution
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022)
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, 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