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Disease Models & Mechanisms|August 26, 2025
Novel patient-specific BBSOAS mouse models reveal genotype-phenotype correlations in brain structure and behaviorJohann G Maass, Dominik Kamionek, Annabelle Mantilleri, et al.
Genome Medicine|September 30, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsBo Yuan, Katharina V Schulze, Nurit Assia Batzir, et al.
Nature Genetics|November 10, 2009
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesMarwan Shinawi, Christian P Schaaf, Samarth S Bhatt, et al.
Human Mutation|July 10, 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndromeChun-An Chen, Emeline Crutcher, Harinder Gill, et al.
American Journal of Medical Genetics. Part A|April 11, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlationsMegan E Rech, John M McCarthy, Chun-An Chen, et al.
Clinical Genetics|October 30, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case SeriesSebastian Burkart, Tarik Guzeloglu, Ana R Soares, et al.
Pediatric Research|July 1, 2021
Birth defect co-occurrence patterns in the Texas Birth Defects RegistryRenata H Benjamin, Angela E Scheuerle, Daryl A Scott, et al.
NPJ Precision Oncology|June 10, 2022
Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD)E Rempel, K Kluck, S Beck, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
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.
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