A. Caro-Llopis

发表

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

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

M. Roselló, C. Orellana, F. Martínez, 2020, Pediatric Research.

The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

E. Boon, M. V. van Haelst, L. Kleinendorst, 2018, American journal of medical genetics. Part A.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2016, Journal of Medical Genetics.

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

F. Martínez, M. Tomás Vila, S. Monfort, 2022, Journal of child neurology.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

M. Roselló, C. Orellana, F. Martínez, 2016, Pediatric Research.

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

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

Clinical implication of FMR1 intermediate alleles in a Spanish population

B. Rodríguez-Santiago, F. Martínez, M. Milá, 2018, Clinical genetics.

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

M. Roselló, C. Orellana, F. Martínez, 2021, Scientific Reports.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

M. Roselló, C. Orellana, F. Martínez, 2017, International journal of genomics.

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

M. Roselló, C. Orellana, F. Martínez, 2018, International journal of endocrinology and metabolism.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

F. Martínez, Tzung-Chien Hsieh, G. Lyon, 2023, European Journal of Human Genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.