Marco Fichera - Publications, H-index & Citations

Marco Fichera

university of bologna

39H指数

148论文数

10.0K被引数

收录论文 56

发表时间

When survival models fail: An interpretable anomaly-detection approach for high-risk phenotypes in resected solid pseudopapillary tumors 当生存模型失效时：针对切除后实体乳头状肿瘤高风险表型的可解释异常检测方法

Surgery

IF2.7

2026-07-01

PREAI

Ricci, Claudio; Alberici, Laura; D'Ambra, Vincenzo; Ingaldi, Carlo; Fichera, Marco; Casarotto, Martina; Pisani, Federico; Casadei, Riccardo

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy 色体碎裂易位t(1;18)：一例正常智力发育且伴有吡哆醇依赖性癫痫的基因组复杂性范例

Genes

IF2.8

2026-03-03

OAAI

Raffaele Falsaperla; Eliana Salvo; Annamaria Sapuppo; Chiara Barberi; Vincenzo Sortino; Gaia Fusto; Roberta Rizzo; Xena Giada Pappalardo; Giovanni Corsello; Martino Ruggieri; Catia Romano; Lucia Saccuzzo; Marco Fichera; Maria Clara Bonaglia

The “Big Short” of minimally invasive pancreaticoduodenectomy for pancreatic ductal adenocarcinoma. A cost-effectiveness analysis based on randomized trials 《微创胰十二指肠切除术治疗胰腺导管腺癌的“大空头”：一项基于随机试验的成本效益分析》。

HPB

IF2.4

2025-11-01

OAAI

Claudio Ricci; Laura Alberici; Vincenzo D’Ambra; Carlo Ingaldi; Marco Fichera; Riccardo Casadei

Prophylactic abdominal drainage does not reduce morbidity and mortality after distal pancreatectomy: A systematic review and meta-analysis of randomized controlled trials 预防性腹腔引流并不能降低远端胰腺切除术后并发症发生率和死亡率：一项随机对照试验的系统评价和Meta分析

Surgery

IF2.7

2025-10-24

OAAI

Claudio Ricci; Laura Alberici; Vincenzo D'Ambra; Carlo Ingaldi; Marco Fichera; Federico Pisani; Riccardo Casadei

Genetic modifiers and ascertainment drive variable expressivity of complex disorders 遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性

Cell

IF42.5

2025-10-07

OAAI

Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan

Redefining hemodynamic instability in pheochromocytoma surgery through latent class analysis 通过潜类别分析重新定义嗜铬细胞瘤手术中的血流动力学不稳定性

EUROPEAN JOURNAL OF ENDOCRINOLOGY

IF5.2

2025-10-01

PREAI

Alberici, Laura; Ricci, Claudio; Vicennati, Valentina; Windle, Isabella Sophia Lucy; Ingaldi, Carlo; Fichera, Marco; Selva, Saverio; Cosentino, Eugenio; De Leo, Antonio; Balacchi, Caterina; Nanni, Cristina; D'Andrea, Rocco; Casadei, Riccardo; Di Dalmazi, Guido

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20 常染色体隐性痉挛性截瘫20型的患者中观察到母源单亲同源异倍性。

Gene

IF2.4

2025-06-23

OAAI

Eugenia Borgione; Ornella Galesi; Sandro Santa Paola; Mariangela Lo Giudice; Marika Giuliano; Lucia Saccuzzo; Nunzio Testa; Marco Fichera; Carmela Scuderi

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 分类交配和亲本遗传相关性有助于可变表达变体的致病性

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-12-01

OAAI

Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh

Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach

VIRUSES-BASEL

IF3.5

2022-01-11

OAAI

Musso, Nicolo; Bonacci, Paolo Giuseppe; Bongiorno, Dafne; Stracquadanio, Stefano; Bivona, Dalida Angela; Palermo, Concetta Ilenia; Scalia, Guido; Fichera, Marco; Stefani, Stefania

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

GENETICS IN MEDICINE

IF6.2

2019-04-01

128

OAAI

Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A.; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Pawel; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L.; Mari, Francesca; Curro, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Malgorzata J. M.; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R. Frank; Isidor, Bertrand; Schwartz, Charles; Romano, Corrado; Sistermans, Erik; Amor, David J.; Andrieux, Joris; Girirajan, Santhosh

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-01-25

OAAI

Cellini, Elena; Vetro, Annalisa; Conti, Valerio; Marini, Carla; Doccini, Viola; Clementella, Claudia; Parrini, Elena; Giglio, Sabrina; Della Monica, Matteo; Fichera, Marco; Musumeci, Sebastiano Antonino; Guerrini, Renzo

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-01-18

OAAI

Scuderi, Carmela; Saccuzzo, Lucia; Vinci, Mirella; Castiglia, Lucia; Galesi, Ornella; Salemi, Michele; Mattina, Teresa; Borgione, Eugenia; Citta, Santina; Romano, Corrado; Fichera, Marco

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

HUMAN GENETICS

IF3.6

2019-01-17

PREAI

Fichera, Marco; Failla, Pinella; Saccuzzo, Lucia; Miceli, Martina; Salvo, Eliana; Castiglia, Lucia; Galesi, Ornella; Grillo, Lucia; Cali, Francesco; Greco, Donatella; Amato, Carmelo; Romano, Corrado; Elia, Maurizio

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

MOLECULAR PSYCHIATRY

IF10.1

2015-02-24

134

OAAI

van Bon, B. W. M.; Coe, B. P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M. H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H. C.; Scheffer, I.; Gecz, J.; de Vries, B. B. A.; Eichler, E. E.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

NATURE GENETICS

IF31.8

2014-09-14

502

OAAI

Coe, Bradley P.; Witherspoon, Kali; Rosenfeld, Jill A.; van Bon, Bregje W. M.; Vulto-van Silfhout, Anneke T.; Bosco, Paolo; Friend, Kathryn L.; Baker, Carl; Buono, Serafino; Vissers, Lisenka E. L. M.; Schuurs-Hoeijmakers, Janneke H.; Hoischen, Alex; Pfundt, Rolph; Krumm, Nik; Carvill, Gemma L.; Li, Deana; Amaral, David; Brown, Natasha; Lockhart, Paul J.; Scheffer, Ingrid E.; Alberti, Antonino; Shaw, Marie; Pettinato, Rosa; Tervo, Raymond; de Leeuw, Nicole; Reijnders, Margot R. F.; Torchia, Beth S.; Peeters, Hilde; O'Roak, Brian J.; Fichera, Marco; Hehir-Kwa, Jayne Y.; Shendure, Jay; Mefford, Heather C.; Haan, Eric; Gecz, Jozef; de Vries, Bert B. A.; Romano, Corrado; Eichler, Evan E.

Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

PLOS GENETICS

IF3.7

2014-07-10

OAAI

Pillai-Kastoori, Lakshmi; Wen, Wen; Wilson, Stephen G.; Strachan, Erin; Lo-Castro, Adriana; Fichera, Marco; Musumeci, Sebastiano A.; Lehmann, Ordan J.; Morris, Ann C.

Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

IF3.5

2014-03-18

PREAI

Calogero, AE; Garofalo, MR; Barone, N; Longo, GA; De Palma, A; Fichera, M; Rappazzo, G; D'Agata, R; Vicari, E

NATURE GENETICS

IF31.8

2014-02-16

285

OAAI

Helsmoortel, Celine; Vulto-van Silfhout, Anneke T.; Coe, Bradley P.; Vandeweyer, Geert; Rooms, Liesbeth; van den Ende, Jenneke; Schuurs-Hoeijmakers, Janneke H. M.; Marcelis, Carlo L.; Willemsen, Marjolein H.; Vissers, Lisenka E. L. M.; Yntema, Helger G.; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali T.; Malmgren, Helena; Nordgren, Ann; Anneren, Goran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; de Vries, Bert B. A.; Kleefstra, Tjitske; Kooy, R. Frank; Eichler, Evan E.; Van der Aa, Nathalie

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

HUMAN MOLECULAR GENETICS

IF3.2

2013-12-30

131

OAAI

Lionel, Anath C.; Tammimies, Kristiina; Vaags, Andrea K.; Rosenfeld, Jill A.; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K.; Pillalamarri, Vamsee K.; Carter, Melissa T.; Gazzellone, Matthew J.; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W.; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C.; Leather, Susan; Trounce, John; Bedford, H. Melanie; Hatchwell, Eli; Eis, Peggy S.; Yuen, Ryan K. C.; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T.; Nikkel, Sarah M.; Tomiak, Eva M.; Fernandez, Bridget A.; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D.; Schachar, Russell J.; Roberts, Wendy; Paterson, Andrew D.; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Lowry, R. Brian; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; MacDonald, Jeffrey R.; Howe, Jennifer L.; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S.; Wilks, Timothy M.; Sorensen, Mark J.; Bader, Patricia I.; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M.; Della Monica, Matteo; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C.; Talkowski, Michael E.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Scherer, Stephen W.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

JOURNAL OF MEDICAL GENETICS

IF3.7

2013-10-11

OAAI

Schuurs-Hoeijmakers, Janneke H. M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E. L. M.; van de Vondervoort, Ilse I. G. M.; van Bon, Bregje W. M.; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y.; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla, Pinella; Greco, Donatella; Fichera, Marco; Galesi, Ornella; Kleefstra, Tjitske; Greally, Marie T.; Ockeloen, Charlotte W.; Willemsen, Marjolein H.; Bongers, Ernie M. H. F.; Janssen, Irene M.; Pfundt, Rolph; Veltman, Joris A.; Romano, Corrado; Willemsen, Michel A.; van Bokhoven, Hans; Brunner, Han G.; de Vries, Bert B. A.; de Brouwer, Arjan P. M.

研究方向