| 1 |
Impact of diet in shaping gut microbiota revealed by a comparative study in children from Europe and rural Africa
Carlotta De Filippo, Duccio Cavalieri, Monica Di Paola et al. · Proceedings of the National Academy of Sciences
Open access |
2 Aug 2010 |
5,726 |
| 2 |
Acute kidney injury
John A. Kellum, Paola Romagnani, Gloria Ashuntantang et al. · Nature Reviews Disease Primers
Review |
15 Jul 2021 |
1,764 |
| 3 |
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1
Ingmar Blümcke et al. · Epilepsia
Open access |
10 Nov 2010 |
1,764 |
| 4 |
ESPGHAN Revised Porto Criteria for the Diagnosis of Inflammatory Bowel Disease in Children and Adolescents
Arie Levine, Sibylle Koletzko, Dan Turner et al. · Journal of Pediatric Gastroenterology and Nutrition
Open access |
14 Nov 2013 |
1,416 |
| 5 |
Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia
Silvia Giuliana Priori, Carlo Napolitano, Mirella Memmi et al. · Circulation
|
2 Jul 2002 |
1,176 |
| 6 |
Mapping the human genetic architecture of COVID-19
COVID-19 Host Genetics Initiative et al. · Nature
Open access3,896 authors |
8 Jul 2021 |
1,130 |
| 7 |
A developmental and genetic classification for malformations of cortical development: update 2012
Anthony James Barkovich, Renzo Guerrini, Ruben Kuzniecky et al. · Brain
Open access |
16 Mar 2012 |
1,109 |
| 8 |
Consensus guidelines of ECCO/ESPGHAN on the medical management of pediatric Crohn's disease
Frank M. Ruemmele et al. · Journal of Crohn s and Colitis
Open access |
6 Jun 2014 |
1,090 |
| 9 |
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Dominik Sturm et al. · Cell
Open access110 authors |
Feb 2016 |
1,028 |
| 10 |
Chronic kidney disease
Paola Romagnani, Giuseppe Remuzzi, Richard J. Glassock et al. · Nature Reviews Disease Primers
ReviewOpen access |
22 Nov 2017 |
1,008 |
| 11 |
Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study
Valentino Conter et al. · Blood
Open access |
12 Feb 2010 |
795 |
| 12 |
ECFS best practice guidelines: the 2018 revision
Carlo Castellani et al. · Journal of Cystic Fibrosis
Open access |
Mar 2018 |
774 |
| 13 |
Technical standards for respiratory oscillometry
Gregory G. King et al. · European Respiratory Journal
Open access |
26 Nov 2019 |
773 |
| 14 |
Sepsis-associated acute kidney injury: consensus report of the 28th Acute Disease Quality Initiative workgroup
Alexander Zarbock et al. · Nature Reviews Nephrology
ReviewOpen access |
23 Feb 2023 |
772 |
| 15 |
EULAR recommendations for the management of ANCA-associated vasculitis: 2022 update
Bernhard Hellmich et al. · Annals of the Rheumatic Diseases
Open access |
16 Mar 2023 |
748 |
| 16 |
Two Randomized Trials of Canakinumab in Systemic Juvenile Idiopathic Arthritis
Nicolino Ruperto et al. · New England Journal of Medicine
Open access |
19 Dec 2012 |
722 |
| 17 |
Children with Covid-19 in Pediatric Emergency Departments in Italy
Niccolò Parri, Matteo Lenge, Danilo Buonsenso · New England Journal of Medicine
Open access |
May 2020 |
692 |
| 18 |
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol
Helena Trottestam, AnnaCarin Horne, Maurizio Aricò et al. · Blood
Open access |
7 Sep 2011 |
691 |
| 19 |
Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis
Jurgen Sota, Antonella Insalaco, Rolando Cimaz et al. · Frontiers in Pharmacology
Open access |
8 Jan 2019 |
616 |
| 20 |
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura Sophie Kremer et al. · Nature Communications
Open access |
12 Jun 2017 |
615 |
| 21 |
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian Rice et al. · Nature Genetics
Open access |
30 Mar 2014 |
601 |
| 22 |
European Cystic Fibrosis Society Standards of Care: Best Practice guidelines
Alan Robert Smyth, Scott Cameron Bell, Snezana Bojcin et al. · Journal of Cystic Fibrosis
Open access |
May 2014 |
599 |
| 23 |
Podocytopathies
Jeffrey B. Kopp, Hans‐Joachim Anders, Katalin Suszták et al. · Nature Reviews Disease Primers
ReviewOpen access |
13 Aug 2020 |
577 |
| 24 |
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
Eleonora Gambineri, Troy R. Torgerson, Hans D. Ochs · Current Opinion in Rheumatology
|
17 Jun 2003 |
575 |
| 25 |
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
Christopher D. Whelan et al. · Brain
Open access |
29 Nov 2017 |
560 |
| 26 |
Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries
Alexandra L. Quittner, Lutz Goldbeck, Janice Abbott et al. · Thorax
Open access |
21 Sep 2014 |
531 |
| 27 |
Malformations of cortical development: clinical features and genetic causes
Renzo Guerrini, William B. Dobyns · The Lancet Neurology
Open access |
2 Jun 2014 |
523 |
| 28 |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Karine Poirier et al. · Nature Genetics
Open access |
21 Apr 2013 |
517 |
| 29 |
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology
Alexis A. Arzimanoglou, Jacqueline A. French, Warren T. Blume et al. · The Lancet Neurology
|
9 Dec 2008 |
491 |
| 30 |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont et al. · Nature
Open access181 authors |
30 Aug 2011 |
484 |
| 31 |
Henoch Schonlein Purpura in Childhood: Epidemiological and Clinical Analysis of 150 Cases Over a 5-year Period and Review of Literature
Sandra Trapani, Annalisa Micheli, Francesca Grisolia et al. · Seminars in Arthritis and Rheumatism
|
Dec 2005 |
475 |
| 32 |
Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis
Helmut Gadner, Milen Minkov, Nicole Grois et al. · Blood
Open access |
15 Apr 2013 |
457 |
| 33 |
Th17 plasticity in human autoimmune arthritis is driven by the inflammatory environment
Kiran Nistala, Stuart Paul Adams, Helen Cambrook et al. · Proceedings of the National Academy of Sciences
Open access |
2 Aug 2010 |
446 |
| 34 |
Late MRD response determines relapse risk overall and in subsets of childhood T-cell ALL: results of the AIEOP-BFM-ALL 2000 study
Martin Schrappe et al. · Blood
Open access |
Jul 2011 |
442 |
| 35 |
Somatic Mutations in Cerebral Cortical Malformations
Saumya Shekhar Jamuar et al. · New England Journal of Medicine
Open access |
20 Aug 2014 |
400 |
| 36 |
Management of Pediatric Ulcerative Colitis
Dan Turner et al. · Journal of Pediatric Gastroenterology and Nutrition
|
Sep 2012 |
384 |
| 37 |
A randomized trial of parenteral methotrexate comparing an intermediate dose with a higher dose in children with juvenile idiopathic arthritis who failed to respond to standard doses of methotrexate
Nicolino Ruperto et al. · Arthritis & Rheumatism
|
Jul 2004 |
378 |
| 38 |
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission
Imad Najm et al. · Epilepsia
Open access |
15 Jun 2022 |
373 |
| 39 |
Clown Doctors as a Treatment for Preoperative Anxiety in Children: A Randomized, Prospective Study
Laura Vagnoli, Simona Caprilli, Arianna Robiglio et al. · PEDIATRICS
|
30 Sep 2005 |
373 |
| 40 |
Treating juvenile idiopathic arthritis to target: recommendations of an international task force
Angelo Ravelli et al. · Annals of the Rheumatic Diseases
Open access |
11 Apr 2018 |
365 |
| 41 |
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
Chiea Chuen Khor et al. · Nature Genetics
|
13 Nov 2011 |
362 |
| 42 |
Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net
Michael Girschikofsky, Maurizio Aricò, Diego Castillo et al. · Orphanet Journal of Rare Diseases
Open access |
2013 |
360 |
| 43 |
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
Manuela De Gregori et al. · Journal of Medical Genetics
Open access |
31 Aug 2007 |
359 |
| 44 |
Whole-genome sequencing reveals host factors underlying critical COVID-19
Athanasios Kousathanas et al. · Nature
Open access2,399 authors |
7 Mar 2022 |
356 |
| 45 |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David McHugh et al. · Genetics in Medicine
Open access246 authors |
16 Feb 2011 |
356 |
| 46 |
Diagnosis and Management of Pediatric Autoimmune Liver Disease
Giorgina Mieli‐Vergani, Diego Vergani, Ulrich Baumann et al. · Journal of Pediatric Gastroenterology and Nutrition
Open access |
3 Nov 2017 |
355 |
| 47 |
Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study
Brenda Banwell et al. · The Lancet Neurology
|
4 Aug 2007 |
349 |
| 48 |
Management Guidelines of Eosinophilic Esophagitis in Childhood
Anna Papadopoulou, Sibylle Koletzko, Robert B. Heuschkel et al. · Journal of Pediatric Gastroenterology and Nutrition
|
21 Aug 2013 |
347 |
| 49 |
Characterization of Renal Progenitors Committed Toward Tubular Lineage and Their Regenerative Potential in Renal Tubular Injury
Maria Lucia Angelotti, Elisa Ronconi, Lara Ballerini et al. · Stem Cells
Open access |
24 May 2012 |
344 |
| 50 |
Sorafenib and everolimus for patients with unresectable high-grade osteosarcoma progressing after standard treatment: a non-randomised phase 2 clinical trial
Giovanni Grignani, Emanuela Palmerini, Virginia Ferraresi et al. · The Lancet Oncology
Open access |
11 Dec 2014 |
342 |