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M

Maria Francesca Bedeschi

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
H指数:27
被引数:2,487

个人简介

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教育背景

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工作经历

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荣誉奖项

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Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

产前外显子测序：何时诊断率能达到临床实用性？

Genes
IF2.8
2026-01-020
OAAI
Alessia Carrer; Francesco Maria Crupano; Berardo Rinaldi; Giulietta Scuvera; Claudia Cesaretti; Valeria Nicotra; Silvana Gangi; Lorenzo Colombo; Gabriella Araimo; Matilde Tagliabue; Daniela Marchetti; Laura Pezzoli; Maria Garzo; Veronica Accurti; Grazia Volpe; Simona Boito; Palma Finelli; Monica Fumagalli; Maria Francesca Bedeschi; Maria Iascone; Nicola Persico; Federica Natacci
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
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
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
IF2
2025-10-010
OAAI
Klein Haneveld, Mirthe J.; Swieczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Therese A. M. J.; Bedeschi, Maria F.; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M. W.; Garavelli, Livia; Helverschou, Sissel B.; Mcanallen, Susan; Milska-Musa, Katarzyna A.; van Staa, Anneloes; Streata, Ioana; Stumpel, Connie T. R. M.; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M.; ERN ITHACA Guideline Working Grp; van Eeghen, Agnies M.
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences

整合vosoritide疗法与肢体手术在患有软骨发育不全的儿科患者中的实际经验

Orphanet Journal of Rare Diseases
IF3.5
2025-08-260
PRE
Anna Elsa Maria Allegri; Maria Francesca Bedeschi; Maria Beatrice Bocchi; Valentina Camurri; Michaela Veronika Gonfiantini; Chiara Leoni; Milena Mariani; Osvaldo Palmacci; Matteo Porro; Simone Riganti; Caterina Tedesco; Berardo Rinaldi; Emanuela Scarano; Concetta Schiavariello; Angelo Selicorni; Stefano Stagi; Fabio Verdoni; Giuseppe Zampino; Mohamad Maghnie; Roberta Onesimo
A long way to syndromic short stature

综合征性身材矮小的漫长道路

ITALIAN JOURNAL OF PEDIATRICS
IF3.1
2024-09-270
OAAI
Gaudioso, Federica; Meossi, Camilla; Pezzani, Lidia; Grilli, Federico; Silipigni, Rosamaria; Russo, Silvia; Masciadri, Maura; Vimercati, Alessandro; Marchisio, Paola Giovanna; Bedeschi, Maria Francesca; Milani, Donatella
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

双等位基因NEXN变异与胎儿发病扩张型心肌病: 两例独立病例报告和文献修订

ITALIAN JOURNAL OF PEDIATRICS
IF3.1
2024-08-260
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
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome
JOURNAL OF THE AMERICAN HEART ASSOCIATION
IF5.3
2024-02-060
OAAI
Liu, Delong; Billington, Charles J.; Raja, Neelam; Wong, Zoe C.; Levin, Mark D.; Resch, Wulfgang; Alba, Camille; Hupalo, Daniel N.; Biamino, Elisa; Bedeschi, Maria Francesca; Digilio, Maria Cristina; Squeo, Gabriella Maria; Villa, Roberta; Parrish, Pheobe C. R.; Knutsen, Russell H.; Osgood, Sharon; Freeman, Joy A.; Dalgard, Clifton L.; Merla, Giuseppe; Pober, Barbara R.; Mervis, Carolyn B.; Roberts, Amy E.; Morris, Colleen A.; Osborne, Lucy R.; Kozel, Beth A.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
BRAIN
IF11.7
2023-12-012
OA
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-07-2710
PRE
Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-07-196
PRE
Ronchi, Dario; Garbellini, Manuela; Magri, Francesca; Menni, Francesca; Meneri, Megi; Bedeschi, Maria Francesca; Dilena, Robertino; Cecchetti, Valeria; Picciolli, Irene; Furlan, Francesca; Polimeni, Valentina; Salani, Sabrina; Pezzoli, Laura; Fortunato, Francesco; Bellini, Matteo; Piga, Daniela; Ripolone, Michela; Zanotti, Simona; Napoli, Laura; Ciscato, Patrizia; Sciacco, Monica; Mangili, Giovanna; Mosca, Fabio; Corti, Stefania; Iascone, Maria; Comi, Giacomo Pietro
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B-related神经发育障碍的临床和分子谱

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-0111
OAAI
Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
CLINICAL EPIGENETICS
IF4.4
2021-08-1125
OAAI
Ciolfi, Andrea; Foroutan, Aidin; Capuano, Alessandro; Pedace, Lucia; Travaglini, Lorena; Pizzi, Simone; Andreani, Marco; Miele, Evelina; Invernizzi, Federica; Reale, Chiara; Panteghini, Celeste; Iascone, Maria; Niceta, Marcello; Gavrilova, Ralitza H.; Schultz-Rogers, Laura; Agolini, Emanuele; Bedeschi, Maria Francesca; Prontera, Paolo; Garibaldi, Matteo; Galosi, Serena; Leuzzi, Vincenzo; Soliveri, Paola; Olson, Rory J.; Zorzi, Giovanna S.; Garavaglia, Barbara M.; Tartaglia, Marco; Sadikovic, Bekim

研究方向

暂未获取到该数据
M
Maria Iascone
H 指数:35论文数:253被引数:4,004
D
Donatella Milani
H 指数:36论文数:241被引数:4,623
F
Faustina Lalatta
H 指数:30论文数:194被引数:3,877
L
Livia Garavelli
H 指数:38论文数:238被引数:5,214
F
Fabio Mosca
H 指数:75论文数:1,105被引数:2.3万
A
Angelo Selicorni
H 指数:50论文数:758被引数:1.0万
B
Berardo Rinaldi
H 指数:12论文数:43被引数:506
B
Bertrand Isidor
H 指数:72论文数:467被引数:1.7万
F
Fanny Kortüm
H 指数:23论文数:105被引数:2,446
G
Giuseppe Zampino
H 指数:47论文数:337被引数:1.1万