Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

Authors: Lecca, Mauro, Bedeschi, Maria Francesca, Izzi, Claudia, Dordoni, Chiara, Rinaldi, Berardo, Peluso, Francesca, Caraffi, Stefano Giuseppe, Prefumo, Federico, Signorelli, Marino, Zanzucchi, Matteo, Bione, Silvia, Ghigna, Claudia, Sassi, Silvia, Novelli, Antonio, Valente, Enza Maria, Superti‐Furga, Andrea, Garavelli, Livia, Errichiello, Edoardo

Source: Clinical genetics. 104(2):230-237

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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

Authors: POLITANO, Davide, GANA, Simone, PEZZOTTI, Elena, BERARDINELLI, Angela, PASCA, Ludovica, Carmen BARBERO, Veronica, PICHIECCHIO, Anna, Maria VALENTE, Enza, ERRICHIELLO, Edoardo

Source: Brain & development. 45(3):179-184

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SCN2A and arrhythmia: A potential correlation? A case report and literature review

Authors: Tzialla, Chryssoula, Arossa, Alessia, Mannarino, Savina, Orcesi, Simona, Veggiotti, Pierangelo, Fiandrino, Giacomo, Zuffardi, Orsetta, Errichiello, Edoardo

Source: In European Journal of Medical Genetics December 2022 65(12)

Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions

Authors: Carbone, Riccardo, Rovedatti, Laura, Lenti, Marco Vincenzo, Furlan, Daniela, Errichiello, Edoardo, Gana, Simone, Luinetti, Ombretta, Arpa, Giovanni, Alvisi, Costanza, De Grazia, Federico, Valente, Enza Maria, Sessa, Fausto, Paulli, Marco, Vanoli, Alessandro, Di Sabatino, Antonio

Source: In Digestive and Liver Disease December 2021 53(12):1647-1654

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Authors: Liu, Sanxiong, Aldinger, Kimberly A., Cheng, Chi Vicky, Kiyama, Takae, Dave, Mitali, McNamara, Hanna K., Zhao, Wukui, Stafford, James M., Descostes, Nicolas, Lee, Pedro, Caraffi, Stefano G., Ivanovski, Ivan, Errichiello, Edoardo, Zweier, Christiane, Zuffardi, Orsetta, Schneider, Michael, Papavasiliou, Antigone S., Perry, M. Scott, Humberson, Jennifer, Cho, Megan T., Weber, Astrid, Swale, Andrew, Badea, Tudor C., Mao, Chai-An, Garavelli, Livia, Dobyns, William B., Reinberg, Danny

Source: In Molecular Cell 18 November 2021 81(22):4663-4676

Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome

Authors: Errichiello, Edoardo, Malara, Alessandro, Grimod, Gianluca, Avolio, Luigi, Balduini, Alessandra, Zuffardi, Orsetta

Source: In European Journal of Medical Genetics January 2021 64(1)

Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21

Authors: Bonometti, Arturo, Lobascio, Gessica, Boveri, Emanuela, Cesari, Stefania, Lecca, Mauro, Arossa, Alessia, Spinillo, Arsenio, Errichiello, Edoardo, Paulli, Marco

Source: Leukemia & lymphoma. 62(9):2276-2279

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Authors: Lecca, Mauro, Mauri, Lucia, Gana, Simone, Del Longo, Alessandra, Morelli, Federica, Nicotra, Roberta, Plumari, Massimo, Galli, Jessica, Sirchia, Fabio, Valente, Enza Maria, Cavallari, Ugo, Mazza, Marco, Signorini, Sabrina, Errichiello, Edoardo

Source: Clinical Genetics; Oct2024, Vol. 106 Issue 4, p403-412, 10p

Subject Terms: NUCLEOTIDE sequencing, RECESSIVE genes, GENETIC transcription, GENETIC variation, PHENOTYPES

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset

Authors: Todisco, Massimiliano, Gana, Simone, Cosentino, Giuseppe, Errichiello, Edoardo, Arceri, Sebastiano, Avenali, Micol, Valente, Enza Maria, Alfonsi, Enrico

Source: Parkinsonism & related disorders. 78:129-133

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SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

Authors: Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta

Source: In European Journal of Medical Genetics June 2018 61(6):335-340

Further evidence supporting the role of GTDC1in glycine metabolism and neurodevelopmental disorders

Authors: Errichiello, Edoardo, Lecca, Mauro, Vantaggiato, Chiara, Motta, Zoraide, Zanotta, Nicoletta, Zucca, Claudio, Bertuzzo, Sara, Piubelli, Luciano, Pollegioni, Loredano, Bonaglia, Maria Clara

Source: European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p920-927, 8p

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

Authors: Errichiello, Edoardo, Vetro, Annalisa, Mina, Tommaso, Wischmeijer, Anita, Berrino, Enrico, Carella, Miriam, Romagnoli, Maria, Sacchini, Patrizia, Venesio, Tiziana, Zecca, Marco, Zuffardi, Orsetta

Source: In Blood Cells, Molecules and Diseases May 2017 64:38-44

De novo unbalanced translocations have a complex history/aetiology

Authors: Bonaglia, Maria Clara, Kurtas, Nehir Edibe, Errichiello, Edoardo, Bertuzzo, Sara, Beri, Silvana, Mehrjouy, Mana M., Provenzano, Aldesia, Vergani, Debora, Pecile, Vanna, Novara, Francesca, Reho, Paolo, Di Giacomo, Marilena Carmela, Discepoli, Giancarlo, Giorda, Roberto, Aldred, Micheala A., Santos-Rebouças, Cíntia Barros, Goncalves, Andressa Pereira, Abuelo, Diane N., Giglio, Sabrina, Ricca, Ivana, Franchi, Fabrizia, Patsalis, Philippos, Sismani, Carolina, Morí, María Angeles, Nevado, Julián, Tommerup, Niels, Zuffardi, Orsetta

Source: Human genetics. 137(10):817-829

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Discovering a familial Xp11.4 microduplication: Does the mother matter?

Authors: Palka, Chiara, De Marco, Stefania, Alfonsi, Melissa, Matricardi, Sara, Errichiello, Edoardo, Morizio, Elisena, Franchi, Paolo Guanciali, Calabrese, Giuseppe, Mohn, Angelika, Chiarelli, Francesco

Source: Meta gene. 16:90-95

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Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

Authors: De Bernardi, Margherita Lucia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Maini, Ilenia, Street, Maria Elisabeth, Bayat, Allan, Zollino, Marcella, Lepri, Francesca Romana, Gnazzo, Maria, Errichiello, Edoardo, Superti‐Furga, Andrea, Garavelli, Livia

Source: American journal of medical genetics.Part A. 176(9):1991-1995

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083917904.0x000001&indx=1&recIds=ETOCvdc_100083917904.0x000001

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.

Authors: Prato, Adriana, Cirnigliaro, Lara, Maugeri, Federica, Luca, Antonina, Giuliano, Loretta, Vitiello, Giuseppina, Errichiello, Edoardo, Valente, Enza Maria, Del Giudice, Ennio, Mostile, Giovanni, Rizzo, Renata, Barone, Rita

Source: Journal of Clinical Medicine; Feb2024, Vol. 13 Issue 4, p1109, 12p

Subject Terms: AGENESIS of corpus callosum, CORPUS callosum, INFANTS, MAGNETIC resonance imaging, PYRAMIDAL tract, GENETIC mutation

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

Authors: Errichiello, Edoardo, Giorda, Roberto, Gambale, Antonella, Iolascon, Achille, Zuffardi, Orsetta, Giglio, Sabrina

Source: Molecular genetics & genomic medicine. 9(1)

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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

Authors: Lecca, Mauro, Pehlivan, Davut, Suñer, Damià Heine, Weiss, Karin, Coste, Thibault, Zweier, Markus, Oktay, Yavuz, Danial-Farran, Nada, Rosti, Vittorio, Bonasoni, Maria Paola, Malara, Alessandro, Contrò, Gianluca, Zuntini, Roberta, Pollazzon, Marzia, Pascarella, Rosario, Neri, Alberto, Fusco, Carlo, Marafi, Dana, Mitani, Tadahiro, Posey, Jennifer Ellen, Bayramoglu, Sadik Etka, Gezdirici, Alper, Hernandez-Rodriguez, Jessica, Cladera, Emilia Amengual, Miravet, Elena, Roldan-Busto, Jorge, Ruiz, María Angeles, Bauzá, Cristofol Vives, Ben-Sira, Liat, Sigaudy, Sabine, Begemann, Anaïs, Unger, Sheila, Güngör, Serdal, Hiz, Semra, Sonmezler, Ece, Zehavi, Yoav, Jerdev, Michael, Balduini, Alessandra, Zuffardi, Orsetta, Horvath, Rita, Lochmüller, Hanns, Rauch, Anita, Garavelli, Livia, Tournier-Lasserve, Elisabeth, Spiegel, Ronen, Lupski, James R., Errichiello, Edoardo

Source: In The American Journal of Human Genetics 6 April 2023 110(4):681-690

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".

Authors: Lecca, Mauro, Scribante, Andrea, Errichiello, Edoardo

Source: Pediatric Research; May2024, Vol. 95 Issue 6, p1412-1414, 3p

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

Authors: Errichiello, Edoardo, Novara, Francesca, Cremante, Anna, Verri, Annapia, Galli, Jessica, Fazzi, Elisa, Bellotti, Daniela, Losa, Laura, Cisternino, Mariangela, Zuffardi, Orsetta

Source: Molecular cytogenetics. 9(1):1-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114846652.0x000001&indx=1&recIds=ETOCvdc_100114846652.0x000001