Concepedia
Statistics
Publications
49
Citations
2K
H-Index
29
Active since
2007
Affiliations
Azienda Ospedaliera San Gerardo(Current)
University of Milan
Istituti di Ricovero e Cura a Carattere Scientifico
Azienda Socio Sanitaria Territoriale Lariana
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Silvia Maitz is an author at Azienda Ospedaliera San Gerardo specializing in genetics, life sciences, and molecular genetics.
Publications per year
2007–2024
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 189 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
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
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome
Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta et al. · Genetics in Medicine · 2010 · 75 citations
Life Sciences, Genetics, Molecular Genetics +12
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