Publications by authors named "Sandra Monfort"

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Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Sandra Monfort

Amyloid· December 2025

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Triplication of the Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
Alba Gabaldón-Albero, Patricia Smeyers, Sara Hernández-Muela, Mónica Roselló, Carmen Orellana, Sandra Monfort

Genes (Basel)· October 2024

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New variants expand the neurological phenotype of COQ7 deficiency.
María Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero, Daniel J Moreno Férnandez de Ayala, Antonio Arroyo Luque, Sandra Monfort

J Inherit Metab Dis· September 2024

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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel Variant Not Associated with a Skewed X-Inactivation Pattern.
Alba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, Laia Pedrola, Carla Martin-Grau, Sandra Monfort

Genes (Basel)· June 2024

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Sandra Monfort

Genet Med· January 2023

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Extending the Phenotype Related to Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
Ana Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, Juan Carlos Martínez Martínez, Miguel Tomás Vila, Sandra Monfort

J Child Neurol· April 2022

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PIGN encephalopathy: Characterizing the epileptology.
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Sandra Monfort

Epilepsia· April 2022

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Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, Miguel Tomás Vila, Sandra Monfort

Am J Med Genet A· January 2022

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Case Report: Novel Homozygous Likely Pathogenic Variant With Autosomal Recessive Inheritance and Review of the Literature.
Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez

Front Neurol· November 2021

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Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Monica Rosello, Alfonso Caro-Llopis, Carmen Orellana, Silvestre Oltra, Marta Alemany-Albert, Sandra Monfort

Pediatr Res· August 2021

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Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can.
Sonia Mayo, Sandra Monfort

J Hum Lact· May 2021

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Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
Sandra Monfort, Carmen Orellana, Silvestre Oltra, Mónica Rosello, Alfonso Caro-Llopis

Sci Rep· March 2021

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Sandra Monfort

Am J Hum Genet· January 2019

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G Bilancia, Sandra Monfort

Am J Med Genet A· November 2018

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Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.
Sonia Mayo, Sandra Monfort, Mónica Roselló, Carmen Orellana, Silvestre Oltra

Int J Genomics· May 2017

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High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Francisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, Silvestre Oltra, Sonia Mayo, Sandra Monfort

J Med Genet· February 2017

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De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Alfonso Caro-Llopis, Monica Rosello, Carmen Orellana, Silvestre Oltra, Sandra Monfort

Pediatr Res· December 2016

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In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.
Sonia Mayo, Sandra Monfort, Mónica Roselló, Silvestre Oltra, Carmen Orellana

Biomed Res Int· March 2016

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Jason A O'Rawe, Yiyang Wu, Max J Dörfel, Alan F Rope, P Y Billie Au, Sandra Monfort

Am J Hum Genet· December 2015

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Francisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Sandra Monfort

Pediatr Res· November 2015

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Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.
Sonia Mayo, Mónica Roselló, Sandra Monfort, Silvestre Oltra, Carmen Orellana

Genet Med· August 2015

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
Carmen Orellana, Mónica Roselló, Sandra Monfort, Sonia Mayo, Silvestre Oltra

Am J Med Genet A· July 2015

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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Egle Preiksaitiene, Alfonso Caro, Eglė Benušienė, Silvestre Oltra, Carmen Orellana, Sandra Monfort

Am J Med Genet A· June 2015

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Phenotype profiling of patients with intellectual disability and copy number variations.
Mónica Roselló, Francisco Martínez, Sandra Monfort, Sonia Mayo, Silvestre Oltra

Eur J Paediatr Neurol· September 2014

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Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
Francisco Martínez, Mónica Roselló, Sonia Mayo, Sandra Monfort, Silvestre Oltra

Am J Med Genet A· April 2014

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