Maria Iascone - Publications, H-index & Citations

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Maria Iascone

ASST Papa Giovanni XXIII

35H-index

247Paper Count

4.0KCitation Count

Published Papers 80

Publication Date

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

The American Journal of Human Genetics

IF0

2026-04-03

PREAI

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Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A

IF1.7

2026-03-01

PREAI

Nicastro, Emanuele; Zuccoli, Caterina; Marozzi, Roberto; Barletta, Antonino; Licini, Lisa; Tebaldi, Paola; Casotti, Valeria; Stinco, Mariangela; Pezzani, Lidia; Iascone, Maria; D'Antiga, Lorenzo

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Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

IF1.5

2026-02-01

OAAI

Ajmone, Paola Francesca; Rigamonti, Claudia; Brasca, Francesca; Milani, Donatella; Ortigosa, Chiara Ranci; Iascone, Maria; Goisis, Lucrezia; Torella, Annalaura; Costantino, Maria Antonella

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Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics

IF2.3

2025-11-02

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

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

The American Journal of Human Genetics

IF0

2025-10-22

PREAI

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

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

The American Journal of Human Genetics

IF0

2025-10-18

PREAI

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

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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

International Journal of Neonatal Screening 2025, Vol. 11, Page 84

IF4

2025-09-27

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

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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?

Prenatal Diagnosis

IF2.7

2025-08-06

PREAI

Chiara Patelli; Gabriele Tonni; Maria Iascone; Anna Savoia; Giulia Rodella; Laura Pecoraro; Camilla Lucca; Ricciarda Raffaelli

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Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics

IF2.3

2025-06-29

OAAI

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

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Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

CLINICAL GENETICS

IF2.3

2025-05-20

OAAI

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

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-01

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

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Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

IF4.7

2025-02-01

PREAI

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

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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-12-20

OAAI

Castiglioni, Silvia; Pezzoli, Laura; Pezzani, Lidia; Lettieri, Antonella; Di Fede, Elisabetta; Cereda, Anna; Ancona, Silvia; Gallina, Andrea; Colombo, Elisa Adele; Parodi, Chiara; Grazioli, Paolo; Taci, Esi; Milani, Donatella; Iascone, Maria; Massa, Valentina; Gervasini, Cristina

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

GENETICS IN MEDICINE

IF6.2

2024-11-01

PREAI

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.

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Inferring disease course from differential exon usage in the wide titinopathy spectrum

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-08-28

OAAI

Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

ITALIAN JOURNAL OF PEDIATRICS

IF3.1

2024-08-26

OAAI

Picciolli, Irene; Ratti, Angelo; Rinaldi, Berardo; Baban, Anwar; Iascone, Maria; Francescato, Gaia; Cappelleri, Alessia; Magliozzi, Monia; Novelli, Antonio; Parlapiano, Giovanni; Colli, Anna Maria; Persico, Nicola; Carugo, Stefano; Mosca, Fabio; Bedeschi, Maria Francesca

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Novel Genetic Variant in HUWE1 Prenatal and Postnatal Neuroimaging Phenotype

NEUROLOGY-GENETICS

IF3.7

2024-08-01

OAAI

Tortora, Mario; Cattaneo, Elisa; Spaccini, Luigina; Iascone, Maria; Scelsa, Barbara; Micalizzi, Alessia; Novelli, Antonio; Lanna, Mariano; Righini, Andrea; Veggiotti, Pierangelo; Doneda, Chiara

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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

SCIENCE ADVANCES

IF12.5

2024-07-12

OAAI

Fruh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal D.; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina M.; Besseyrias, Valerie; Trovo, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott H.; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutri, Maria R.; Azamian, Mahshid S.; Hernandez-Garcia, Andres; Lalani, Seema R.; Rosenfeld, Jill A.; Zhao, Xiaonan; Vogel, Tiphanie P.; Ona, Herda; Scott, Daryl A.; Scheiffele, Peter; Stromgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard

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Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorder

CLINICAL NEUROPHYSIOLOGY

IF3.6

2024-07-01

PREAI

Caputo, Davide; Franceschetti, Silvana; Canafoglia, Laura; Iascone, Maria; Sebastiano, Davide Rossi; Freri, Elena; Granata, Tiziana

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-01

OAAI

Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.

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Research Directions