Maria A. Mencarelli - Publications

Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations.

Journal: Genes

Published: January 18, 2025

AUTS2-related syndrome: Insights from a large European cohort.

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

Published: July 28, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

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

Published: March 20, 2024

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: September 07, 2023

Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.

Journal: European journal of human genetics : EJHG

Published: January 18, 2023

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

Journal: Frontiers in genetics

Published: January 13, 2023

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

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

Published: October 10, 2022

The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.

Journal: Frontiers in medicine

Published: June 28, 2022

Natural history of KBG syndrome in a large European cohort.

Journal: Human molecular genetics

Published: June 01, 2022

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

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

Published: March 14, 2022

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Journal: Frontiers in molecular neuroscience

Published: February 16, 2022

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Journal: Brain : a journal of neurology

Published: February 14, 2022