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Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.European Journal of Human Genetics : EJHG|February 24, 2019
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathyIlse Luyckx, Gretchen MacCarrick, Marlies Kempers, et al.Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.NPJ Genomic Medicine|March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndromeJosephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.Pageof 2