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Molecular Genetics and Metabolism|September 5, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataractMaxwell B Colonna, Andrzej B Poplawski, Marie N Brzoska, et al.Molecular Genetics & Genomic Medicine|March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohortXiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.Journal of Autism and Developmental Disorders|May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated PhenotypesIrene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.Pageof 3