Concepedia
Statistics
Publications
9
Citations
615
H-Index
Active since
2014
Affiliations
Meyer Children's Hospital(Current)
University of Florence
Bambino Gesù Children's Hospital
Casa Sollievo della Sofferenza
Istituti di Ricovero e Cura a Carattere Scientifico
Sara Bargiacchi is an author at Meyer Children's Hospital specializing in medicine, genetics, and human genetics.
Publications per year
2014–2022
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 · 157 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Valentina Pinna, Paola Daniele, Federica Consoli et al. · European Journal of Human Genetics · 2014 · 135 citations · Full text
Medicine, Genetics, Molecular Genetics +9
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci et al. · Kidney International · 2017 · 125 citations · Full text
Medicine, Genetics, Nephrology +16
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 80 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome
Stefano Stagi, Elisabetta Lapi, Silvia Romano et al. · International Journal of Endocrinology · 2015 · 49 citations · Full text
Medicine, Endocrinology, Pediatrics +17
1–5 of 9