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Biorxiv : the Preprint Server for Biology|May 18, 2026
Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromesJannis Buecking, Baran Enes Güler, Michael Eibl, et al.European Journal of Human Genetics : EJHG|March 1, 2026
A multi-dimensional framework for establishing and managing a genomic newborn screening programElena Schnabel-Besson, Nicola Dikow, Karla Alex, et al.Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.Frontiers in Cell and Developmental Biology|March 9, 2026
Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndromeLiselot van der Laan, Rob Zwart, Andrea Venema, et al.Journal of Human Genetics|December 28, 2017
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndromeMaria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|April 28, 2021
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or PalateMaria Luisa Navarro Sanchez, Renata H Benjamin, Laura E Mitchell, et al.Journal of Dental Research|September 16, 2021
MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell MigrationL G Stüssel, R Hollstein, M Laugsch, et al.Nature Communications|July 14, 2017
Quantitative real-time imaging of glutathioneXiqian Jiang, Jianwei Chen, Aleksandar Bajić, et al.American Journal of Medical Genetics. Part A|July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndromeFelix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.Nature Communications|October 4, 2017
Corrigendum: Quantitative real-time imaging of glutathioneXiqian Jiang, Jianwei Chen, Aleksandar Bajić, et al.Pageof 23