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Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.Nature Communications|August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.The Journal of Clinical Endocrinology and Metabolism|October 22, 2021
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort StudyFerdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, et al.American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, 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.American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.Pageof 10