Anna Maria Pinto

13PUBLICATIONS
45CO-AUTHORS
GenomicsPredictive and prognostic markersNephrology and urologyEpigenetics (incl. genome methylation and epigenomics)Genomics and transcriptomics
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Publications (13)

|Dec 30, 2025
A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Simona Innamorato, Simona L Basso, Omaima Belakhdar

|May 19, 2025
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman

|Oct 18, 2024
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Sergio Daga, Lorenzo Loberti, Giulia Rollo

|Dec 24, 2021
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino

|Jan 18, 2021
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.

Sergio Daga, Chiara Fallerini, Margherita Baldassarri

|Apr 26, 2020
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Susanna Croci, Miriam Lucia Carriero, Katia Capitani

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