List of Publications
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Enlarged spinal nerve roots in RASopathies: Report of two cases
Chiara L, Marta T, Dario T, Tommaso V, Roberta O, Cesare C, Elisabetta F, Alessandro DL, Marco T, Donato R, Giuseppe Z
European journal of medical genetics. 2021 Apr;64(4):104187
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Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
Alfieri P, Caciolo C, Lazzaro G, Menghini D, Cumbo F, Dentici ML, Digilio MC, Gnazzo M, Demaria F, Pironi V, Zampino G, Novelli A, Tartaglia M, Vicari S
Journal of clinical medicine. 2021 Apr 6;10(7)
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Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
Brain : a journal of neurology. 2021;144(10):3020–35
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A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops
Castiglia D, Fortugno P, Condorelli AG, Barresi S, de Luca N, Pizzi S, Neri I, Graziano C, Trojan D, Ponzin D, Rossi S, Zambruno G, Tartaglia M
Genes. 2021;12(5)
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In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale
Lauri A, Fasano G, Venditti M, Dallapiccola B, Tartaglia M
Frontiers in cell and developmental biology. 2021;9:642235
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KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
Pavinato L, Nematian-Ardestani E, Zonta A, de Rubeis S, Buxbaum J, Mancini C, Bruselles A, Tartaglia M, Pessia M, Tucker SJ, D’Adamo MC, Brusco A
International journal of molecular sciences. 2021 Jun 4;22(11)
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Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis
Borghi R, Magliocca V, Petrini S, Conti LA, Moreno S, Bertini E, Tartaglia M, Compagnucci C
Journal of clinical medicine. 2021 Jun 23;10(13)
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Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L
Genes. 2021;12(7)
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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L
Genes. 2021;12(7)
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Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
Manuela P, Clementina RF, Simone P, Letizia P, Francesca P, Cecilia M, Viviana C, Emilio A, Corrado M, Bruno D, Marco T
Genes. 2021;12(7)