Orazio Palumbo

ResearcherID Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 33

Top Venues

Genes

Cancers

International journal of molecular sciences

Biomedicines

Ospedale Casa Sollievo della Sofferenza

Università degli Studi di Bari Aldo Moro (PHD)

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

Affiliation History

Ospedale Casa Sollievo della Sofferenza Feb 01 2019

Italy

Dirigente Biologo/PhD :: U.O.C. Genetica Medica

Ospedale Casa Sollievo della Sofferenza - Jan 31 2019

Italy

Biologo/PhD :: U.O.C. Genetica Medica

Education History

Università degli Studi di Bari Aldo Moro

Italy

PHD

Publications

Stefania Martino, Pietro D'Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Tartaglia Marco, Graziano Pesole, Nicoletta Resta
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency. International journal of molecular sciences 25 (17) (2024)
Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam. Biomedicines 12 (8) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam. Biomedicines 12 (8) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment. Genes 14 (10) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer. Cancers 15 (7) (2023)
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. Genes 12 (2) (2021)
Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. International journal of molecular sciences 22 (15) (2021)
Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome. Genes 12 (4) (2021)
Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. Genes 12 (8) (2021)
Claudia Busonero, Stefano Leone, Fabrizio Bianchi, Elena Maspero, Marco Fiocchetti, Orazio Palumbo, Manuela Cipolletti, Stefania Bartoloni, Filippo Acconcia
Ouabain and Digoxin Activate the Proteasome and the Degradation of the ERα in Cells Modeling Primary and Metastatic Breast Cancer. Cancers 12 (12) (2020)
Orazio Palumbo, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, Marco Castori
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features. Genes 11 (6) (2020)
Jacopo Albanesi, Nelida Inés Noguera, Cristina Banella, Tommaso Colangelo, Elisabetta De Marinis, Stefano Leone, Orazio Palumbo, Maria Teresa Teresa Voso, Paolo Ascenzi, Clara Nervi, Fabrizio Bianchi, Alessandra di Masi
Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells 9 (11) (2020)
Nayeralsadat Fatemi, Najmeh Salehi, Laura Pignata, Pietro Palumbo, Maria Vittoria Cubellis, Fariba Ramazanali, Pierre F Ray, Maryam Varkiani, Fakhreddin Reyhani-Sabet, Alireza Biglari, Angela Sparago, Basilia Acurzio, Orazio Palumbo, Massimo Carella, Andrea Riccio, Mehdi Totonchi
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy. Journal of medical genetics 58 (11) (2020)
Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De Meco, Lucia Micale, Paolo Graziano, Marco Castori
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation. International journal of molecular sciences 21 (14) (2020)
Nicola Laforgia, Lucrezia De Cosmo, Orazio Palumbo, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo, Pierluigi Iapicca, Patrizia Lastella, Manuela Capozza, Federico Schettini, Nenad Bukvic, Rosanna Bagnulo, Nicoletta Resta
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein. Genes 11 (12) (2020)
Laura Pignata, Orazio Palumbo, Flavia Cerrato, Basilia Acurzio, Enrique de Álava, Josep Roma, Soledad Gallego, Jaume Mora, Massimo Carella, Andrea Riccio, Gaetano Verde
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors. Cancers 12 (11) (2020)
Micol Bertocchi, Federico Sirri, Orazio Palumbo, Diana Luise, Giuseppe Maiorano, Paolo Bosi, Paolo Trevisi
Exploring Differential Transcriptome between Jejunal and Cecal Tissue of Broiler Chickens. Animals : an open access journal from MDPI 9 (5) (2019)
Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Genes 10 (12) (2019)
Flavia Angela Maria Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Beth L Dumont, Ashley D Sanders, Andy Wing Chun Pang, Mitchell R Vollger, Orazio Palumbo, Pietro Palumbo, Maria Accadia, Massimo Carella, Evan E Eichler, Francesca Antonacci
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. PLoS genetics 15 (3) (2019)
Alberto L Abbate, Doron Tolomeo, Ingrid Cifola, Marco Severgnini, Antonella Turchiano, Bartolomeo Augello, Gabriella Squeo, Pietro D'Addabbo, Debora Traversa, Giulia Daniele, Angelo Lonoce, Mariella Pafundi, Massimo Carella, Orazio Palumbo, Anna Dolnik, Dominique Muehlematter, Jacqueline Schoumans, Nadine Van Roy, Gianluca De Bellis, Giovanni Martinelli, Giuseppe Merla, Lars Bullinger, Claudia Haferlach, Clelia Tiziana Storlazzi
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences. Leukemia 32 (10) (2018)
Pietro Palumbo, Maria Accadia, Maria P Leone, Teresa Palladino, Raffaella Stallone, Massimo Carella, Orazio Palumbo
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome. American journal of medical genetics. Part A 176 (2) (2017)
Gemma Macchia, Marco Severgnini, Stefania Purgato, Doron Tolomeo, Hilen Casciaro, Ingrid Cifola, Alberto L'Abbate, Anna Loverro, Orazio Palumbo, Massimo Carella, Laurence Bianchini, Giovanni Perini, Gianluca De Bellis, Fredrik Mertens, Mariano Rocchi, Clelia Tiziana Storlazzi
The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer. Genetics 208 (3) (2017)
Tommaso Nuzzo, Silvia Sacchi, Francesco Errico, Simona Keller, Orazio Palumbo, Ermanno Florio, Daniela Punzo, Francesco Napolitano, Massimiliano Copetti, Massimo Carella, Lorenzo Chiariotti, Alessandro Bertolino, Loredano Pollegioni, Alessandro Usiello
Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients. NPJ schizophrenia 3 (2017)
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. American journal of medical genetics. Part A 173 (7) (2017)
Agostina De Crescenzo, Valentina Citro, Andrea Freschi, Angela Sparago, Orazio Palumbo, Maria Vittoria Cubellis, Massimo Carella, Pia Castelluccio, Maria Luigia Cavaliere, Flavia Cerrato, Andrea Riccio
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. Journal of human genetics 60 (6) (2015)
Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Sonia Bouquillon, Anne-Lise Delezoide, Bruno Delobel, Florence Demurger, Hélène Dessuant, Séverine Drunat, Christelle Dubourg, Céline Dupont, Laurence Faivre, Muriel Holder-Espinasse, Sylvie Jaillard, Hubert Journel, Stanislas Lyonnet, Valérie Malan, Alice Masurel, Nathalie Marle, Chantal Missirian, Alexandre Moerman, Anne Moncla, Sylvie Odent, Orazio Palumbo, Pietro Palumbo, Aimé Ravel, Serge Romana, Anne-Claude Tabet, Mylène Valduga, Marie Vermelle, Massimo Carella, Jean-Michel Dupont, Alain Verloes, Brigitte Benzacken, Andrée Delahaye
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. European journal of human genetics : EJHG 23 (8) (2014)
Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada-Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, Marjan Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, Mohamed Basly, Myriam Chaabouni, Massimo Carella, Gianni Russo, Maria Clara Bonaglia, Orsetta Zuffardi
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. European journal of human genetics : EJHG 23 (8) (2014)

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Publication Activity (10 Years)

Top Topics

Top Venues

Orazio Palumbo