Elisa Biamino

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Antonio Adamo, Sina Atashpaz, Pierre‐Luc Germain et al. · Nature Genetics · 2014 · 128 citations

Transcriptional Regulation, Induced Pluripotent Stem Cell, Medicine +10

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Giovanni Battista Ferrero, Cédric Howald, Lucia Micale et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

Medicine, Atypical 7Q11.23, Urology +1

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20