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Dr. med. Sarah Schuhmann
List of publications:
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Institute of Human Genetics
Publications
(11)
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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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Edited Volume
Conference contribution
Conference contribution
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024)
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al.
Journal article
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
De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022)
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al.
Journal article, Original article
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder (2022)
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, et al.
Journal article
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
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021)
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al.
Journal article
Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021)
Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al.
Journal article
Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Journal article
Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Conference contribution
Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019)
Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al.
Conference contribution
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