Bartolomeo Augello

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

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

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 102 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +15

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

Alberto L’Abbate, Doron Tolomeo, Ingrid Cifola et al. · Leukemia · 2018 · 99 citations · Full text