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Genes|July 29, 2023
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis DefectPaolo Fontana, Alberto Budillon, Domenico Simeone, et al.
Kidney & Blood Pressure Research|May 25, 2025
CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney DiseaseRita Santarsiere, Giulia Florio, Annalisa Gonnella, et al.
BMC Neurology|September 3, 2020
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case reportClaudia Santoro, Teresa Giugliano, Pia Bernardo, et al.
Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.
American Journal of Medical Genetics. Part A|March 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos SyndromePasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, et al.
Kidney International Reports|February 24, 2025
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial EtiologyMiriam Zacchia, Floriana Secondulfo, Andrea Melluso, et al.
Plos One|May 14, 2013
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.
Children (Basel, Switzerland)|March 28, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 VariantClaudia Santoro, Francesca Aiello, Antonella Farina, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
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