Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Paz (11)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2022

  1. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

  2. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082

2014

  1. Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: Patient reclassification

    Journal of Pediatric Endocrinology and Metabolism, Vol. 27, Núm. 11-12, pp. 1089-1094

2010

  1. Mutations in HPSE2 Cause Urofacial Syndrome

    American Journal of Human Genetics, Vol. 86, Núm. 6, pp. 963-969