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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.Human Genetics|April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.Pageof 9