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European Journal of Medical Genetics|November 8, 2021
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literatureSerena Troisi, Silvia Maitz, Mariasavina Severino, et al.
Molecular Genetics & Genomic Medicine|April 12, 2019
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4Gerarda Cappuccio, Raffaella Brunetti-Pierri, Annalaura Torella, et al.
American Journal of Medical Genetics. Part A|December 13, 2017
A child with Myhre syndrome presenting with corectopia and tetralogy of FallotMarianna Alagia, Gerarda Cappuccio, Michele Pinelli, et al.
Italian Journal of Pediatrics|April 14, 2016
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variantsGerarda Cappuccio, Francesco Vitiello, Alberto Casertano, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Clinical description of a patient carrying the smallest reported deletion involving 10p14 regionDaniela Melis, Rita Genesio, Pasquale Boemio, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature reviewGerarda Cappuccio, Rita Genesio, Valentina Ronga, et al.
American Journal of Medical Genetics. Part A|March 7, 2020
Expansion of the phenotype of lateral meningocele syndromeGerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, et al.
Epigenetics|September 21, 2011
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotypeRita Genesio, Daniela Melis, Sole Gatto, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
European Journal of Medical Genetics|April 3, 2022
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variantMargherita Lucia De Bernardi, Agnese Di Stazio, Alfonso Romano, et al.
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