Silvia Burri-Azzarello

Schlieren, ZH, Switzerland

Last Updated: 09/26/2026

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Found 21 publications

BRCA2 germline mutation carrier with five malignancies: a case report.

BRCA2 germline mutation carrier with five malignancies: a case report.

Journal: Hereditary cancer in clinical practice

Published: August 29, 2024

Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.

Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.

Journal: Swiss medical weekly

Published: September 14, 2021

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Journal: The New England journal of medicine

Published: June 23, 2021

Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.

Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: December 17, 2019

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.

Journal: Swiss medical weekly

Published: August 19, 2019

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Journal: American journal of human genetics

Published: May 28, 2019

Special form of osteoporosis in a 53-year-old man.

Special form of osteoporosis in a 53-year-old man.

Journal: BMJ case reports

Published: December 21, 2018

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Journal: American journal of human genetics

Published: December 20, 2018

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

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

Published: November 27, 2018

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: April 09, 2018

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Journal: European journal of human genetics : EJHG

Published: March 21, 2018

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Journal: Investigative ophthalmology & visual science

Published: August 02, 2017

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Last Updated: 09/26/2026