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HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
European Journal of Human Genetics : EJHG|July 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorderPalak Singhal, Tzung-Chien Hsieh, Nadja Ehmke, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Medrxiv : the Preprint Server for Health Sciences|March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
American Journal of Human Genetics|July 10, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
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