Michele Pinelli (M Pinelli)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Cells

Epilepsia

Telethon Institute of Genetics and Medicine

Universita degli Studi di Napoli Federico II (PHD)

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

Affiliation History

Telethon Institute of Genetics and Medicine Nov 01 2014

Italy

Postdoctoral fellow

Radboud University Medical Center Feb 01 2013 - Jul 31 2014

Netherlands

Visiting Scientist :: Department of Human Genetics

Education History

Universita degli Studi di Napoli Federico II

Italy

PHD

Universita degli Studi di Napoli Federico II

Italy

PHD

Publications

Alessandro De Falco, Antonella Gambale, Michele Pinelli, Teresa Suero, Luigia De Falco, Achille Iolascon, Stefania Martone
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect. Cells 13 (13) (2024)
Alessandro De Falco, Antonella Gambale, Michele Pinelli, Teresa Suero, Luigia De Falco, Achille Iolascon, Stefania Martone
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect. Cells 13 (13) (2024)
Arianna De Laurentiis, Claudia Ciaccio, Alessandra Erbetta, Michele Pinelli, Vincenzo Nigro, Chiara Pantaleoni, Stefano D'Arrigo
Periventricular heterotopia in a male child with USP9X missense variant. American journal of medical genetics. Part A (2023)
Antonietta Coppola, S Krithika, Michele Iacomino, Dheeraj Bobbili, Simona Balestrini, Irene Bagnasco, Leonilda Bilo, Daniela Buti, Susanna Casellato, Claudia Cuccurullo, Edoardo Ferlazzo, Costin Leu, Lucio Giordano, Giuseppe Gobbi, Laura Hernandez-Hernandez, Nick Lench, Helena Martins, Stefano Meletti, Tullio Messana, Vincenzo Nigro, Michele Pinelli, Tommaso Pippucci, Ravishankara Bellampalli, Barbara Salis, Vito Sofia, Pasquale Striano, Salvatore Striano, Laura Tassi, Aglaia Vignoli, Anna Elisabetta Vaudano, Maurizio Viri, Ingrid Eileen Scheffer, Patrick May, Federico Zara, Sanjay M Sisodiya
Dissecting the genetics of spectrum of Epilepsies with Eyelid Myoclonia by exome sequencing. Epilepsia (2023)
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti-Pierri
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. American journal of medical genetics. Part A 188 (10) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, Emilia K Bijlsma, Tamara T Koopmann, Mariette J V Hoffer, Kimberly McDonald, Laura G Hendon, Sofia Douzgou, Charulata Deshpande, Stefano D'Arrigo, Annalaura Torella, Vincenzo Nigro, Brunella Franco, Nicola Brunetti-Pierri
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Anna Laura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna C E Hurst, Tawfeg Ben-Omran, Martin Jakob Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Hérissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo Nigro, Pasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Clinical genetics 100 (5) (2021)
Sandro Michelini, Pietro Chiurazzi, Valerio Marino, Daniele Dell'Orco, Elena Manara, Mirko Baglivo, Alessandro Fiorentino, Paolo Enrico Maltese, Michele Pinelli, Karen Louise Herbst, Astrit Dautaj, Matteo Bertelli
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema. International journal of molecular sciences 21 (17) (2020)
Gerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, Annalaura Torella, Michele Pinelli, Brunella Franco, Bruno Corrado, Ennio Del Giudice, Alessandra D'Amico, Vincenzo Nigro, null null, Nicola Brunetti-Pierri
Expansion of the phenotype of lateral meningocele syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Martin Jaeger, Michele Pinelli, Monica Borghi, Claudio Costantini, M Dindo, L van Emst, Matteo Puccetti, Marilena Pariano, Isis Ricaño-Ponce, Christian Büll, Mark S Gresnigt, X Wang, J Gutierrez Achury, C W M Jacobs, N Xu, M Oosting, Peer Arts, L A B Joosten, Frank L van de Veerdonk, J A Veltman, J Ten Oever, Bart Jan Kullberg, M Feng, G J Adema, Cisca Wijmenga, V Kumar, Jack D Sobel, Christian Gilissen, L Romani, M G Netea
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis. Science translational medicine 11 (496) (2020)
Michele Pinelli, Gaetano Terrone, Flavia Troglio, Gabriella Maria Squeo, Gerarda Cappuccio, Floriana Imperati, Piero Pignataro, Rita Genesio, Lucio Nitch, Ennio Del Giudice, Giuseppe Merla, Giuseppe Testa, Nicola Brunetti-Pierri
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clinical genetics 97 (6) (2020)
Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Giuseppina Vitiello, Alessandra D'Amico, Marianna Alagia, Ennio Del Giudice, Vincenzo Nigro, null null, Nicola Brunetti-Pierri
An extremely severe phenotype attributed to WDR81 nonsense mutations. Annals of neurology 82 (4) (2019)
Gerarda Cappuccio, Taraka Donti, Michele Pinelli, Pia Bernardo, Carmela Bravaccio, Sarah H Elsea, Nicola Brunetti-Pierri
Sphingolipid Metabolism Perturbations in Rett Syndrome. Metabolites 9 (10) (2019)
Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D'Amico, null null, Vincenzo Nigro, Valeria Capra
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. European journal of human genetics : EJHG 27 (8) (2019)
Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold, Sebastian Thaler, Efdal Yoeruek, Jan Vetter, Susanne Kohl, Bernd Wissinger
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes 8 (10) (2017)
Jakob M Goldmann, Wendy S W Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Anna B Stittrich, Gustavo Glusman, Lisenka E L M Vissers, Alexander Hoischen, Jared C Roach, Joseph G Vockley, Joris A Veltman, Benjamin D Solomon, Christian Gilissen, John E Niederhuber
Parent-of-origin-specific signatures of de novo mutations. Nature genetics 48 (8) (2016)

Michele Pinelli.css-eqlu8i{font-size:small;padding-left:4px;} (M Pinelli)

Publication Activity (10 Years)

Top Topics

Top Venues

Michele Pinelli (M Pinelli)