Elena Di Pierro

Statistics

Publications

Citations

430

H-Index

Active since

2000

Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(Current)

University of Milan

Ospedale Maggiore

University of Modena and Reggio Emilia

San Gallicano Hospital

Elena Di Pierro is an author at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico specializing in life sciences, genetics, and porphyria pathobiology.

ORCID

Publications per year

2000–2023

Publications

Congenital erythropoietic porphyria linked to <scp>GATA</scp> 1‐ <scp>R</scp> 216 <scp>W</scp> mutation: challenges for diagnosis

Elena Di Pierro, Roberta Russo, Zeynep Karakaş et al. · European Journal Of Haematology · 2014 · 47 citations

Life Sciences, Genetics, Hematology +17

X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria

Valentina Brancaleoni, Manisha Balwani, Francesca Granata et al. · Clinical Genetics · 2015 · 39 citations

Life Sciences, Genetics, Molecular Genetics +15

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile et al. · The American Journal of Human Genetics · 2023 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?

Paolo Ventura, Elena Corradini, Elena Di Pierro et al. · European Journal of Internal Medicine · 2020 · 29 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +12

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan

Rawand Shamoon, Nasir Al‐Allawi, Maria Domenica Cappellini et al. · Hemoglobin · 2015 · 27 citations

Life Sciences, Genetics, Molecular Genetics +12

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