Eva Trevisson

Padova, Italy

Last Updated: 09/26/2026

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Found 81 publications

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Journal: Human mutation

Published: May 13, 2026

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Journal: American journal of medical genetics. Part A

Published: December 18, 2025

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

Journal: European journal of human genetics : EJHG

Published: October 22, 2025

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Journal: Clinical chemistry

Published: October 13, 2025

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disorders.

Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disorders.

Journal: Psychiatry research. Neuroimaging

Published: September 22, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response.

A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response.

Journal: Pathologica

Published: March 19, 2025

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Journal: Molecular genetics and metabolism reports

Published: August 05, 2024

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Journal: Heliyon

Published: June 19, 2024

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Journal: American journal of human genetics

Published: June 07, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2024

Showing 1-12 of 81

Last Updated: 09/26/2026