Dr. med. Juliane Hoyer

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Institute of Human Genetics
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Types of publications

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Book chapter / Article in edited volumes
Authored book
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Edited Volume
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Unpublished / Preprint

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Journal

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology (2017) Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, et al. Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling (2015) Vasileiou G, Ekici AB, Urebe S, Zweier C, Hoyer J, Engels H, Behrens J, et al. Journal article De novo mutations in the genome organizer CTCF cause intellectual disability (2013) Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al. Journal article Biallelic SEMA3A defects cause a novel type of syndromic short stature (2013) Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, et al. Journal article
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