Sandra Monfort - Publications

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: July 07, 2025

Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

Journal: Genes

Published: August 30, 2024

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Journal: Genes

Published: May 06, 2024

New variants expand the neurological phenotype of COQ7 deficiency.

Journal: Journal of inherited metabolic disease

Published: March 30, 2024

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

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

Published: May 31, 2022

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Journal: Journal of child neurology

Published: January 24, 2022

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Journal: Frontiers in neurology

Published: September 28, 2021

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Journal: American journal of medical genetics. Part A

Published: March 26, 2021

Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can.

Journal: Journal of human lactation : official journal of International Lactation Consultant Association

Published: March 16, 2021

Prevalence of pathogenic copy number variants among children conceived by donor oocyte.

Journal: Scientific reports

Published: September 01, 2020

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.

Journal: Pediatric research

Published: June 12, 2020