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European Journal of Human Genetics : EJHG|January 16, 2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler-Alfonso, Claudia M B Carvalho, Jun Ge, et al.Computational and Structural Biotechnology Journal|February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentJulian Schröter, Tal Dattner, Jennifer Hüllein, et al.Genetics in Medicine Open|March 19, 2026
A population-representative survey on attitudes toward genomic newborn screening in GermanyElena Sophia Doll, Karla Alex, Carlotta Julia Mayer, et al.Journal of Neuroendocrinology|December 2, 2022
Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndromeFerdinand Althammer, Moritz Claudius Wimmer, Quirin Krabichler, et al.Frontiers in Cardiovascular Medicine|July 9, 2025
Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologiesPhilipp Erhart, Nicola Dikow, Eva M C Schwaibold, et al.American Journal of Human Genetics|February 4, 2018
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion SyndromeJiani Yin, Wu Chen, Eugene S Chao, et al.Frontiers in Genetics|January 20, 2026
Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignatureLiselot van der Laan, Martin A Haagmans, Andrea Venema, et al.American Journal of Medical Genetics. Part A|December 21, 2022
Patterns of co-occurring birth defects in children with anotia and microtiaJeremy M Schraw, Renata H Benjamin, Charles J Shumate, et al.American Journal of Human Genetics|June 22, 2024
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromesDavid Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, et al.Nature|October 25, 2013
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic propertiesKihoon Han, J Lloyd Holder, Christian P Schaaf, et al.Pageof 23