Miriam L. Carriero - Publications

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Journal: Genes

Published: August 29, 2025

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

Journal: Clinical genetics

Published: October 28, 2024

Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot Study.

Journal: Journal of personalized medicine

Published: August 01, 2024

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: April 28, 2024

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

Journal: Genes

Published: March 29, 2024

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.

Journal: Molecular syndromology

Published: January 09, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.

Journal: Genes

Published: July 13, 2023

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

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

Published: February 06, 2023

Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Journal: European journal of human genetics : EJHG

Published: February 02, 2023

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

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

Published: January 13, 2022

The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.

Journal: Autophagy

Published: December 29, 2021