Elisa Molinari

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 23 publications

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Journal: Clinical science (London, England : 1979)

Published: January 22, 2025

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Journal: Clinical genetics

Published: July 28, 2022

Gene and epigenetic editing in the treatment of primary ciliopathies.

Gene and epigenetic editing in the treatment of primary ciliopathies.

Journal: Progress in molecular biology and translational science

Published: June 27, 2021

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.

Journal: Journal of cell science

Published: February 24, 2021

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

Journal: Human mutation

Published: February 15, 2021

Cell preservation methods and its application to studying rare disease.

Cell preservation methods and its application to studying rare disease.

Journal: Molecular and cellular probes

Published: November 09, 2020

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Journal: Molecular genetics & genomic medicine

Published: September 02, 2020

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Journal: BMC developmental biology

Published: July 27, 2020

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

Journal: BMC nephrology

Published: June 04, 2020

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

Journal: BMC nephrology

Published: March 10, 2020

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: March 07, 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 28, 2019

Showing 1-12 of 23

Last Updated: 09/26/2026