Concepedia

Bartolomeo Augello

BA

Statistics

Publications

33

Citations

1.9K

H-Index

25

Active since

2008

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Casa Sollievo della Sofferenza

University of Foggia

University of Lausanne

University of Milan

Bartolomeo Augello is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2008–2020

33

Publications

33

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 · 133 citations

, , +17

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 · 109 citations · Full text

, , +7

<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 · 103 citations · Full text

, , +17

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

, , +16

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

Alberto L’Abbate, Doron Tolomeo, Ingrid Cifola et al. · Leukemia · 2018 · 102 citations · Full text

, , +17

1–5 of 33