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American Journal of Medical Genetics. Part A|November 16, 2010
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteriaVíctor Martínez-Glez, Valeria Romanelli, María A Mori, et al.American Journal of Medical Genetics. Part A|August 12, 2011
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest personMatthew R Fickie, Pablo Lapunzina, Jennifer K Gentile, et al.Human Reproduction (Oxford, England)|September 22, 2018
Inconclusive chromosomal assessment after blastocyst biopsy: prevalence, causative factors and outcomes after re-biopsy and re-vitrification. A multicenter experienceDanilo Cimadomo, Laura Rienzi, Valeria Romanelli, et al.European Journal of Human Genetics : EJHG|January 21, 2011
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniquesValeria Romanelli, Heloisa N M Meneses, Luis Fernández, et al.Cancers|August 12, 2022
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to <i>CDKN1C</i> Pathogenic VariantsLeila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, et al.Journal of Medical Genetics|November 25, 2010
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanismValeria Romanelli, Julián Nevado, Mario Fraga, et al.Genome Research|January 10, 2014
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishmentFranck Court, Chiharu Tayama, Valeria Romanelli, et al.American Journal of Medical Genetics. Part A|August 3, 2016
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniquesJair Tenorio, Valeria Romanelli, Alex Martin-Trujillo, et al.American Journal of Medical Genetics. Part A|May 27, 2010
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphismsValeria Romanelli, Alberta Belinchón, Sara Benito-Sanz, et al.The Journal of Biological Chemistry|July 4, 2012
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Cecilio Giménez, Gonzalo Pérez-Siles, Jaime Martínez-Villarreal, et al.Pageof 3