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M

Maria Iascone

Institute of Medical and Molecular Genetics
H指数:35
被引数:4,000

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荣誉奖项

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Economic and diagnostic impact of adopting WES and WGS as first-tier tests in the paediatric rare disease diagnosis: evidence from Italy and Spain

采用全外显子组测序和全基因组测序作为儿科罕见病诊断的一线检测的经济和诊断影响：来自意大利和西班牙的证据

Orphanet Journal of Rare Diseases
IF3.5
2026-09-290
OAAI
María Palomares-Bralo; Antonio Novelli; Dario Cocciadiferro; Lorena Travaglini; Fe Amalia García-Santiago; Fernando Santos-Simarro; Marta Pacio-Míguez; Carmen Rodríguez-Jiménez; María Ángeles Gómez-Cano; Karen E. Heath; Anna Baggi; Valeria Scagliotti; Martina Tedesco; Victoria Lucia Rabsiun Aramburu; Maria Antonietta Magno; Giuseppe Inebria; Lidia Pezzani; Erica Rosina; Laura Pezzoli; Jean Marie Franzini; Maria Iascone
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis

NUSAP1变异体的致病性由NMD逃逸决定：来自两个新病例和系统性基于人群的变异体分析的证据

Clinical Genetics
IF2.3
2026-09-270
OA
Maureen Jacob; Susann Badmann; Stefania Bigoni; Maria Iascone; Ilaria Vivaldi; Katharina Mayerhanser; Robert Kopajtich; Holger Prokisch; Cristina Forest; Sebastian Eck; Michael Zech; Elisabeth Graf; Matias Wagner; Juliane Winkelmann; Theresa Brunet; Melanie Brugger
Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy

临床、转录组和单倍型特征分析：与意大利北部肥厚型心肌病相关的MYBPC3剪接位点变异c.1458-1G>A和c.3331-1G>A的复发特征

Genes
IF2.8
2026-09-200
OA
Carlotta Pia Cristalli; Maria Alessandra Schiavo; Miryam Rosa Stella Foti; Sara Calabrese; Federica Isidori; Alice Margutti; Pierluigi Laricchiuta; Giulia Governatori; Francesco Lai; Vera Uliana; Federico Barocelli; Elia De Maria; Alessandro Fucili; Biagio Sassone; Giulia Parmeggiani; Enrica Perugini; Camilla Lucca; Francesca Cappuccini; Laura Pezzoli; Maria Iascone; Maria Piane; Giovanni Vitale; Claudio Graziano; Rita Selvatici; Alessandra Ferlini; Maddalena Graziosi; Elena Biagini; Daniela Turchetti; Francesca Gualandi; Cesare Rossi
Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

超越雷特综合征：扩展与致病性MECP2变异相关神经谱系的一个病例系列

Journal of Neurology
IF4.6
2026-08-260
PRE
Camilla Meossi; Alessandro De Falco; Deianira Rinaldi; Stefano Pagano; Alessandra Tessa; Rosanna Trovato; Laura Pezzoli; Maria Rosaria Iascone; Caterina Ceccarini; Elena Freri; Emanuele Bartolini; Stefano D’Arrigo; Sara Calderoni; Antonio Canosa; Salvatore Gallone; Elvira Verduci; Donatella Milani; Filippo Maria Santorelli
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics
IF0
2026-04-030
PRE
Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Tatiani Brenelli De Lima; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

相对可交换铜证实了威尔逊病，并支持对具有冲突致病性证据的ATP7B p.Met665Ile变异进行重新分类

American Journal of Medical Genetics Part A
IF1.7
2026-03-011
PRE
Nicastro, Emanuele; Zuccoli, Caterina; Marozzi, Roberto; Barletta, Antonino; Licini, Lisa; Tebaldi, Paola; Casotti, Valeria; Stinco, Mariangela; Pezzani, Lidia; Iascone, Maria; D'Antiga, Lorenzo
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

XRCC2基因同源p.(Arg215Ter)变异与无儿童期主要血液学异常的不典型范可尼贫血相关

American Journal of Medical Genetics Part A
IF1.7
2026-01-010
OAAI
Cenciarelli, Sabina; Marchetti, Giulia Bruna; Iascone, Maria; Patricelli, Maria Grazia; Giangiobbe, Sara; Pozzobon, Gabriella Cinzia; Savini, Miriam Nella; Giglio, Fabio; Aiuti, Alessandro; Carrera, Paola; Ferrua, Francesca; Peron, Angela
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

《一个谱系的面貌：一个大宗染色质病队列的临床与遗传特征分析——来自一家三级医疗中心30年的经验》

Clinical Genetics
IF2.3
2025-11-020
OAAI
Giulia Bruna Marchetti; Erica Rosina; Camilla Meossi; Michela Mura; Lidia Pezzani; Angelo Selicorni; Maria Francesca Bedeschi; Romano Tenconi; Carlo Agostoni; Palma Finelli; Sara De Matteis; Elisabetta Di Fede; Valentina Massa; Laura Pezzoli; Cristina Gervasini; Maria Iascone; Donatella Milani
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

The American Journal of Human Genetics
IF0
2025-10-220
PRE
Laura Planas-Serra; Mar Rodríguez-Ruiz; Eric Nathaniel Anderson; Agustí Rodríguez-Palmero; Valentina Vélez-Santamaria; Agatha Schlüter; Edgard Verdura; Gorka Gereñu; Andrés Jiménez-Zúñiga; Alejandro Iñañez; Josefina Casas; Joan Josep Bech; Carolina De La Torre; Juan José Martínez; Montserrat Ruiz; Stéphane Fourcade; Maria Iascone; Romano Tenconi; Kolja Meier; Susann Diegmann; Reagan H.C. Lee; Bakht Beland; Asif Mir; Hossein Darvish; Wendy Chung; Ehsan Ghayoor Karimiani; Suzanne M. Leal; Isabelle Schrauwen; Susanna Öhman; Irma Järvelä; Johanna Granvik; Karit Reinson; Elvira Kurvinen; Katrin Õunap; Annemarie Schwan; Konrad Platzer; Tuğba Kalayci; Shahrashoub Sharifi; G. Christoph Korenke; Henry Houlden; Reza Maroofian; Adolfo López de Munaín; Carlos Casasnovas; Udai Bhan Pandey; Aurora Pujol
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关的神经发育障碍的临床与分子谱

The American Journal of Human Genetics
IF0
2025-10-180
PRE
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

意大利X-连锁肾上腺脑白质营养不良的新生儿筛查：一项为期4年的试点研究的临床与生化结果

International Journal of Neonatal Screening 2025, Vol. 11, Page 84
IF4
2025-09-270
OAAI
Eleonora Bonaventura; Fabio Bruschi; Luisella Alberti; Clara Antonello; Filippo Arrigoni; Marina Balestriero; Barbara Borsani; Laura Cappelletti; Elisa Cattaneo; Matilde Ferrario; Giulia Fiore; Maria Iascone; Giana Izzo; Simona Lucchi; Cecilia Parazzini; Michela Perrone Donnorso; Luigina Spaccini; Ylenia Vaia; Pierangelo Veggiotti; Elvira Verduci; Gianvincenzo Zuccotti; Cristina Cereda; Davide Tonduti; XALD-NBS Study Group
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?

新型双等位基因变异在CPOX基因中，一例伴产前发病及不良新生儿结局的遗传性粪卟啉症病例：这是Harderoporphyria的潜在诊断线索？

Prenatal Diagnosis
IF2.7
2025-08-060
PRE
Chiara Patelli; Gabriele Tonni; Maria Iascone; Anna Savoia; Giulia Rodella; Laura Pecoraro; Camilla Lucca; Ricciarda Raffaelli
Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

进一步探讨TRRAP基因型-表型相关性：聚焦骨骼异常的三例新患者报告

Clinical Genetics
IF2.3
2025-06-290
OA
Chiara Minotti; Sara Terreri; Andrea Del Fattore; Francesca Romana Lepri; Rosario Ruta; Maria Iascone; Laura Pezzoli; Maria Lisa Dentici; Antonio Novelli; Michelina Armando; Daniela Longo; Giuseppe Novelli; Domenico Barbuti; Andrea Bartuli; Ugo Cavallari; Ludovico Graziani; Maria Cristina Digilio; Lorenzo Sinibaldi
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

GRIA2 p.Gly792和GRIA3 p.Gly803旁系同源获得功能变异的临床及神经发育特征

CLINICAL GENETICS
IF2.3
2025-05-200
OA
Emilie Sjøstrøm; Dorota Studniarczyk; Xinyao Dou; Rebekka S. Dahl; Vincent Cruz; Heng Wang; Sandra Mercier; Wallid Deb; Thomas Besnard; Jennifer Friedman; Miriam Essid; Sana Karoui; Lamia Ben Jemaa; Thouraya Benyounes; Gaetan Lesca; Davide Tonduti; Maria Iascone; Simona Orcesi; Melanie Fradin; Christèle Dubourg; Silvia Napuri; Stuart G. Cull-Candy; Ian D. Coombs; Mark Farrant; Allan Bayat
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
OAAI
Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
IF4.7
2025-02-010
PRE
Bottillo, Irene; Ciccone, Maria Pia; Magliozzi, Monia; Pilichou, Kalliopi; Girotto, Giorgia; Girolami, Francesca; Cecconi, Massimiliano; D'Argenio, Valeria; Novelli, Valeria; Coiana, Alessandra; Formicola, Daniela; Micaglio, Emanuele; Tortora, Giada; Gualandi, Francesca; Petrucci, Simona; Castori, Marco; Resta, Nicoletta; Vestri, Anna Rita; Iascone, Maria; Grammatico, Paola
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
GENETICS IN MEDICINE
IF6.2
2024-11-010
PRE
Huang, Yue; Jay, Kristy L.; Huang, Alden Yen-Wen; Wan, Jijun; Jangam, Sharayu V.; Chorin, Odelia; Rothschild, Annick; Barel, Ortal; Mariani, Milena; Iascone, Maria; Xue, Han; Huang, Jing; Mignot, Cyril; Keren, Boris; Saillour, Virginie; Mah-Som, Annelise Y.; Sacharow, Stephanie; Rajabi, Farrah; Costin, Carrie; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J.; Rosenfeld, Jill A.; Palmer, Christina G. S.; Nelson, Stanley F.; Wangler, Michael F.; Martinez-Agosto, Julian A.

研究方向

暂未获取到该数据
L
Laura Pezzoli
H 指数:17论文数:61被引数:971
A
Anna Cereda
H 指数:25论文数:74被引数:2,011
R
Romano Tenconi
H 指数:47论文数:194被引数:7,602
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
A
Antonio Vitobello
H 指数:36论文数:226被引数:4,610
M
Maria Francesca Bedeschi
H 指数:27论文数:125被引数:2,486
L
Laurence Faivre
H 指数:85论文数:716被引数:3.2万
D
Donatella Milani
H 指数:36论文数:241被引数:4,617
A
Antonio Novelli
H 指数:51论文数:565被引数:1.5万
L
Lidia Pezzani
H 指数:15论文数:62被引数:1,239