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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.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, 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.
Nature Communications|March 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integrationStefan Groeneweg, Ferdy S van Geest, Mariano Martín, et al.
Autophagy|September 12, 2012
Guidelines for the use and interpretation of assays for monitoring autophagyDaniel J Klionsky, Fabio C Abdalla, Hagai Abeliovich, et al.
Autophagy|February 26, 2021
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, et al.
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