Maja Di Rocco

8.2k citations

147 papers · 3.6k indexed · h-index 34

Co-authors: Mirella Filocamo Andrea Rossi Roberta Biancheri Annalisa Madeo Agata Fiumara C Borrone Fabio Corsolini Rossella Parini
Topics: Lysosomal Storage Disorders Research (55 papers)Trypanosoma species research and implications (17 papers)Cellular transport and secretion (17 papers)
Cited by: Rheumatology Physiology Clinical Biochemistry
Journals: The Lancet Nature GeneticsSHILAP Revista de lepidopterología
Partner nations: Italy United States United Kingdom

In The Last Decade

Maja Di Rocco

143 papers receiving 3.5k citations

Peers

Countries citing papers authored by Maja Di Rocco

Since Specialization

Citations

This map shows the geographic impact of Maja Di Rocco's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Maja Di Rocco with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Maja Di Rocco more than expected).

Fields of papers citing papers by Maja Di Rocco

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Maja Di Rocco. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Maja Di Rocco. The network helps show where Maja Di Rocco may publish in the future.

Co-authorship network of co-authors of Maja Di Rocco

This figure shows the co-authorship network connecting the top 25 collaborators of Maja Di Rocco. A scholar is included among the top collaborators of Maja Di Rocco based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Maja Di Rocco. Maja Di Rocco is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry 2022 ·Blood Cells Molecules and Diseases ·Maria Domenica Cappellini,Francesca Carubbi,Maja Di Rocco,Fiorina Giona,Gaetano Giuffrida	8
2	Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva 2021 ·Calcified Tissue International ·Sarah E. Warner,Frederick S. Kaplan,Robert J. Pignolo,Stacy E. Smith,Edward C. Hsiao,Carmen De Cunto,Maja Di Rocco,(unknown),Donna R. Grogan,Harry K. Genant	10
3	Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives? 2020 ·Orphanet Journal of Rare Diseases ·Maja Di Rocco,Alessio Di Fonzo,Antonio Barbato,Maria Domenica Cappellini,Francesca Carubbi,Fiorina Giona,Gaetano Giuffrida,Silvia Linari,Andrea Pession,(unknown),Maurizio Scarpa,Marco Spada,Pietro Strisciuglio,Generoso Andria	5
4	Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva 2020 ·Orphanet Journal of Rare Diseases ·(unknown),Carmen De Cunto,Geneviève Baujat,Kelly L. Wentworth,Donna R. Grogan,Matthew A. Brown,Maja Di Rocco,Richard Keen,Mona Al Mukaddam,Kim‐Hanh Le Quan Sang,Umesh Masharani,Frederick S. Kaplan,Robert J. Pignolo,Edward C. Hsiao	12
5	Stomatocytes and macrothrombocytopenia: A blood film for a rare disease 2020 ·SHILAP Revista de lepidopterología ·(unknown),(unknown),Francesca Scuderi,Concetta Micalizzi,Maja Di Rocco	2
6	Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience 2020 ·Molecular Genetics & Genomic Medicine ·Rita Fischetto,(unknown),Maria Margherita Mancardi,Thea Giacomini,(unknown),(unknown),Maja Di Rocco,Lucia Zampini,Giuseppe Lassandro,(unknown),(unknown),Pietro Strisciuglio,Alfonso Romano,Mariasavina Severino,Amelia Morrone,Paola Giordano	20
7	Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 2019 ·Genes ·Stefano Giuseppe Caraffi,(unknown),Ivan Ivanovski,Marzia Pollazzon,(unknown),Maurizia Valli,Antonio Rossi,(unknown),Silvia Faccioli,Maja Di Rocco,Cinzia Magnani,Belinda Campos‐Xavier,Sheila Unger,Andrea Superti‐Furga,Livia Garavelli	15
8	Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts 2019 ·Clinical Genetics ·Insa Buers,Ivana Persico,(unknown),Yvonne Nitschke,Maja Di Rocco,Angela Loi,Puneet Kaur Sahi,Gülen Eda Ütine,(unknown),Giuseppe Zampino,Giangiorgio Crisponi,Frank Rutsch,Laura Crisponi	11
9	Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants 2017 ·Atherosclerosis ·Livia Pisciotta,Giulia Tozzi,Lorena Travaglini,Roberta Taurisano,Tiziano Lucchi,Giuseppe Indolfi,Francesco Papadia,Maja Di Rocco,Lorenzo D’Antiga,Patricia Crock,(unknown),S. L. Nightingale,Helen Michelakakis,Anastasia Garoufi,(unknown),S Bertolini,S. Calandra	19
10	Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation 2017 ·Clinical Genetics ·Maja Di Rocco,Marta Rusmini,Francesco Caroli,Annalisa Madeo,Marta Bertamino,(unknown),Isabella Ceccherini	32
11	Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion 2015 ·American Journal of Medical Genetics Part A ·Elisa Tassano,Vidhya Jagannathan,Cord Drögemüller,(unknown),Marjo K. Hytönen,Mariasavina Severino,Stefania Gimelli,Cristina Cuoco,Maja Di Rocco,(unknown),Andrew K. Groves,Tosso Leeb,Giorgio Gimelli	26
12	Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease 2008 ·Molecular Genetics and Metabolism ·Maja Di Rocco,Maria Grazia Calevo,(unknown),Daniela Melis,Anna Elsa Maria Allegri,Giancarlo Parenti	28
13	Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes 2007 ·The American Journal of Human Genetics ·Nathalie Dagoneau,Samuel Bellais,Patricia Blanchet,P. Sardá,L.I. Al-Gazali,Maja Di Rocco,Céline Huber,Fatima Djouadi,Carine Le Goff,Arnold Münnich,Valérie Cormier‐Daire	51
14	Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes 2007 ·American Journal of Medical Genetics Part A ·Francesca Faravelli,Marina Murdolo,Giuseppe Marangi,F. Dagna Bricarelli,Maja Di Rocco,Marcella Zollino	42
15	Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome 2004 ·The American Journal of Human Genetics ·Nathalie Dagoneau,Déborah Scheffer,Céline Huber,L.I. Al-Gazali,Maja Di Rocco,Anne Godard,Jelena Martinović,Annick Raas‐Rothschild,Sabine Sigaudy,Sheila Unger,Sophie Nicole,Bertrand Fontaine,Jean‐Luc Taupin,Jean-François Moreau,Andrea Superti‐Furga,Martine Le Merrer,Jacky Bonaventure,Arnold Münnich,Laurence Legeai‐Mallet,Valérie Cormier‐Daire	136
16	Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia 2003 ·American Journal of Medical Genetics Part A ·Maja Di Rocco,(unknown),Claudio Bruno,(unknown),M. Bado,Andrea Superti‐Furga	34
17	Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency 2000 ·European Journal of Paediatric Neurology ·Maja Di Rocco,(unknown),Giuseppe Minniti,U. Caruso,Etsuo Naito	25
18	?-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement 2000 ·Human Mutation ·Amelia Morrone,(unknown),Maria Alice Donati,Mauro Giorgi,Maja Di Rocco,(unknown),Rossella Parini,Renato Pietro Ricci,(unknown),Alessandra d’Azzo,Enrico Zammarchi	54
19	Case of the month: a child with stiff neck 1997 ·European Journal of Pediatrics ·Maja Di Rocco,Loredana Tasso,M. P. Fondelli,C Marino,Marta Romanengo,R. Giacchino,C Borrone	2
20	Report on two patients with Costello syndrome and sialuria 1993 ·American Journal of Medical Genetics ·Maja Di Rocco,Rosanna Gatti,Paolo Gandullia,A. Barabino,Paolo Picco,C Borrone	38

About Maja Di Rocco

Maja Di Rocco is a scholar working on Physiology, Rheumatology and Clinical Biochemistry, having authored 147 papers that have together received 3.6k indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (55 papers), Trypanosoma species research and implications (17 papers) and Cellular transport and secretion (17 papers). The work is most often cited by research in Rheumatology (778 citations), Physiology (1.2k citations) and Clinical Biochemistry (254 citations). Maja Di Rocco has collaborated with scholars based in Italy, United States and United Kingdom. Frequent co-authors include Mirella Filocamo, Andrea Rossi, Roberta Biancheri, Annalisa Madeo, Agata Fiumara, C Borrone, Fabio Corsolini, Rossella Parini, Arnold Münnich and Valérie Cormier‐Daire. Their work appears in journals such as The Lancet, Nature Genetics and SHILAP Revista de lepidopterología.

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