Clinical genetics

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Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain

Authors Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D Journal Clinical Genetics Citation Clin Genet. 2022 Dec 28. Abstract Protein translation is an
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Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent
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Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

Authors Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Feb 26. Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of
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Premature aging disorders: A clinical and genetic compendium

Authors Schnabel F, Kornak U, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2020 Aug 28. Abstract Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson-Gilford progeria syndrome, one of the
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