E. Gabau

发表

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

B. Gener, B. Rodríguez-Santiago, L. Pérez-Jurado, 2015, Molecular Autism.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

P. Lapunzina, M. Campo, J. Calaf, 2010, The Journal of clinical endocrinology and metabolism.

Title: High rates of neurodevelopmental risk CNVs in patients with intellectual disabilities and co-morbid psychiatric disorders Running title: High rates of CNVs in ID with psychiatric disorder Byline:

J. Vermeesch, A. McQuillin, N. Baena, 2018 .

ASPECTOS MÉDICOS Y NEUROPSICOLÓGICOS DEL SÍNDROME X FRÁGIL

E. Gabau, J. Artigas-Pallarés, C. Brun, 2001 .

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

N. Baena, E. Gabau, A. Ruiz, 2017, BMC Medical Genetics.

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities

R. McKinstry, M. Shinawi, Stephanie M Morris, 2019, Clinical genetics.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

L. Armengol, N. Baena, E. Vilella, 2018, Behavior genetics.

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

J. Vermeesch, A. McQuillin, N. Bass, 2018, British Journal of Psychiatry.

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

N. Baena, Joan San, M. D. Coll, 2014, Molecular genetics & genomic medicine.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

N. Baena, S. Derdak, X. de la Cruz, 2020, bioRxiv.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15

M. Milá, M. D. Coll, E. Gabau, 2002, Journal of medical genetics.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

V. Quesada, Diana A. Puente, C. López-Otín, 2016, Journal of Medical Genetics.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

N. Baena, N. Spataro, E. Gabau, 2023, Genes.

Novel Mutations Causing C5 Deficiency in Three North-African Families

D. Comas, N. Baena, P. Soler-Palacín, 2016, Journal of Clinical Immunology.

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

A. Jeyaprakash, M. Segura, Stefan Hümmer, 2021, Frontiers in Neuroscience.

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

N. Baena, S. Derdak, E. Gabau, 2018, Molecular genetics & genomic medicine.

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

Z. Tümer, N. Tommerup, H. Ropers, 2008, European journal of medical genetics.

Characterization of six marker chromosomes by comparative genomic hybridization

N. Baena, M. Caballín, E. Gabau, 2005, American journal of medical genetics. Part A.

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A. Munnich, S. Bohlander, W. Wurst, 2021, Annals of neurology.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

N. Baena, E. Gabau, J. P. Trujillo-Quintero, 2024, Frontiers in Genetics.

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

L. Armengol, X. Estivill, R. Guillamat, 2010, Molecular Psychiatry.

Novel Mutations Causing C5 Deficiency in Three North-African Families

D. Comas, N. Baena, P. Soler-Palacín, 2016, Journal of Clinical Immunology.