Edoardo Errichiello

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 17

Top Topics

Autism Spectrum Disorder

High Performance Liquid Chromatography

Obstructive Sleep Apnea

Mitochondrial Dna

Top Venues

European journal of human genetics : EJHG

Clinical genetics

Journal of clinical medicine

Pediatric research

This page only lists publications with an associated author ORCID identifier.

Publications

Mauro Lecca, Andrea Scribante, Edoardo Errichiello
Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis". Pediatric research 95 (6) (2024)
Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli, Roberta Nicotra, Massimo Plumari, Jessica Galli, Fabio Sirchia, Enza Maria Valente, Ugo Cavallari, Marco Mazza, Sabrina Signorini, Edoardo Errichiello
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract. Clinical genetics (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements. Journal of clinical medicine 13 (4) (2024)
Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kári Stefánsson, Yan Bai, Jill Anne Rosenfeld, Seema R Lalani, Haley Streff, null null, R Frank Kooy, Sarah Weckhuysen
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. European journal of human genetics : EJHG (2024)
Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements. Journal of clinical medicine 13 (4) (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Mauro Lecca, Andrea Scribante, Edoardo Errichiello
Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis". Pediatric research (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli, Roberta Nicotra, Massimo Plumari, Jessica Galli, Fabio Sirchia, Enza Maria Valente, Ugo Cavallari, Marco Mazza, Sabrina Signorini, Edoardo Errichiello
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract. Clinical genetics 106 (4) (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG 32 (8) (2024)
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. European journal of human genetics : EJHG (2024)
Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti-Furga, Livia Garavelli, Edoardo Errichiello
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3. Clinical genetics (2023)
Edoardo Errichiello, Alessia Arossa, Angela Iasci, Roberta Villa, Benedetta Ischia, Maria Angela Pavesi, Tommaso Rizzuti, Maria Francesca Bedeschi, Orsetta Zuffardi
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. Clinical genetics 98 (6) (2020)
Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Rita Giglio
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism. Molecular genetics & genomic medicine 9 (1) (2020)
Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Goncalves, Diane N Abuelo, Sabrina Rita Giglio, Ivana Ricca, Fabrizia Franchi, Philippos C Patsalis, Carolina Sismani, María Angeles Morí, Julián Nevado, Niels Tommerup, Orsetta Zuffardi
De novo unbalanced translocations have a complex history/aetiology. Human genetics 137 (10) (2018)
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. The Journal of pathology 243 (1) (2017)