| 1 |
Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria
Brenda Banwell et al. · The Lancet Neurology
Open access |
25 Jan 2023 |
1,225 |
| 2 |
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
Enrique A. González et al. · Science
|
7 Jan 2005 |
1,143 |
| 3 |
International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions
Lauren Krupp, Marc Tardieu, Maria Pia Amato et al. · Multiple Sclerosis Journal
|
9 Apr 2013 |
1,133 |
| 4 |
The future of cystic fibrosis care: a global perspective
Scott C Bell et al. · The Lancet Respiratory Medicine
Open access |
27 Sep 2019 |
988 |
| 5 |
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Luyan Liu et al. · The Journal of Experimental Medicine
Open access |
4 Jul 2011 |
805 |
| 6 |
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative
Angelo Ravelli et al. · Arthritis & Rheumatology
Open access |
28 Aug 2015 |
782 |
| 7 |
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
Eric H. Kossoff et al. · Epilepsia Open
Open access |
25 Apr 2018 |
765 |
| 8 |
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine L. Bladen et al. · Human Mutation
Open access |
21 Jan 2015 |
760 |
| 9 |
Acute disseminated encephalomyelitis
Silvia Noemi Tenembaum, Néstor Chamoles, Natalio Fejerman · Neurology
|
22 Oct 2002 |
713 |
| 10 |
The MLL recombinome of acute leukemias in 2017
Claus Meyer et al. · Leukemia
Open access |
13 Jul 2017 |
698 |
| 11 |
Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease
Oussama Abla, Eric D. Jacobsen, Jennifer Lee Picarsic et al. · Blood
Open access |
2 May 2018 |
644 |
| 12 |
Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group
Eric H. Kossoff et al. · Epilepsia
Open access |
24 Sep 2008 |
610 |
| 13 |
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno et al. · Annals of the Rheumatic Diseases
Open access |
24 Apr 2019 |
593 |
| 14 |
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Julie Toubiana et al. · Blood
Open access |
26 Apr 2016 |
587 |
| 15 |
Retinoblastoma
Helen Dimaras, Timothy W. Corson, David E. Cobrinik et al. · Nature Reviews Disease Primers
ReviewOpen access |
26 Aug 2015 |
560 |
| 16 |
The MLL recombinome of acute leukemias in 2013
Claus Meyer et al. · Leukemia
Open access |
30 Apr 2013 |
513 |
| 17 |
American Society of Hematology 2018 Guidelines for management of venous thromboembolism: treatment of pediatric venous thromboembolism
Paul Monagle et al. · Blood Advances
Open access |
27 Nov 2018 |
464 |
| 18 |
Acute disseminated encephalomyelitis
Daniela Pohl, Gülay Pinar Alper, Keith P. van Haren et al. · Neurology
|
29 Aug 2016 |
462 |
| 19 |
Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis
Helmut Gadner, Milen Minkov, Nicole Grois et al. · Blood
Open access |
15 Apr 2013 |
457 |
| 20 |
Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Jun J. J. Mao, Geetha Gopalakrishna Pillai, Carlos José Coelho de Andrade et al. · CA A Cancer Journal for Clinicians
Open access |
9 Nov 2021 |
447 |
| 21 |
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R. Lemke et al. · Nature Genetics
|
11 Aug 2013 |
446 |
| 22 |
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
Nicole Revençu et al. · Human Mutation
Open access |
2008 |
437 |
| 23 |
Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A Multinational, Multicenter Study of 362 Patients
Francesca Minoia et al. · Arthritis & Rheumatology
|
30 Jul 2014 |
434 |
| 24 |
Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein
Kevin C. O’Connor et al. · Nature Medicine
Open access |
12 Jan 2007 |
419 |
| 25 |
Clinical features of dominant and recessive interferon γ receptor 1 deficiencies
Susan E. Dorman, Capucine Pïcard, David A. Lammas et al. · The Lancet
|
Dec 2004 |
417 |
| 26 |
A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency
Salima Hacein‐Bey‐Abina et al. · New England Journal of Medicine
Open access |
8 Oct 2014 |
414 |
| 27 |
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis
Angelo Ravelli et al. · Annals of the Rheumatic Diseases
|
10 Feb 2016 |
413 |
| 28 |
New insights to the MLL recombinome of acute leukemias
Claus Meyer et al. · Leukemia
|
5 Mar 2009 |
412 |
| 29 |
Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy
Sándor Beniczky et al. · Epilepsia
Open access |
23 Apr 2025 |
398 |
| 30 |
Global Retinoblastoma Presentation and Analysis by National Income Level
Global Retinoblastoma Study Group et al. · JAMA Oncology
Open access473 authors |
27 Feb 2020 |
382 |
| 31 |
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Alexandra Y. Kreins et al. · The Journal of Experimental Medicine
Open access |
24 Aug 2015 |
368 |
| 32 |
Localized scleroderma in childhood is not just a skin disease
Francesco Zulian et al. · Arthritis & Rheumatism
|
Sep 2005 |
368 |
| 33 |
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 |
| 34 |
Towards an international pediatric liver tumor consensus classification: proceedings of the Los Angeles COG liver tumors symposium
Dolores H Lopez-Terrada, Rita Alaggio, Maria del Carmen Calle Dávila et al. · Modern Pathology
Open access |
6 Sep 2013 |
355 |
| 35 |
Regional variation of Guillain-Barré syndrome
Alex Y. Doets et al. · Brain
Open access222 authors |
10 Aug 2018 |
338 |
| 36 |
Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification
Helmut Gadner, Nicole Grois, Ulrike Pötschger et al. · Blood
|
19 Dec 2007 |
336 |
| 37 |
NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells
Adriana R. Mantegazza, Ariel Savina, Monica Elba Vermeulen et al. · Blood
Open access |
6 Aug 2008 |
335 |
| 38 |
Cisplatin versus Cisplatin plus Doxorubicin for Standard-Risk Hepatoblastoma
Giorgio Perilongo, Rudolf C. Maibach, Elisabeth Shafford et al. · New England Journal of Medicine
Open access |
21 Oct 2009 |
326 |
| 39 |
Risk factors for diabetes insipidus in langerhans cell histiocytosis
Nicole Grois, Ulrike Pötschger, Helmut Prosch et al. · Pediatric Blood & Cancer
|
26 Jul 2005 |
326 |
| 40 |
Thoracoscopic Repair of Esophageal Atresia and Tracheoesophageal Fistula
George W. Holcomb III, Steven S. Rothenberg, Klaas M. A. Bax et al. · Annals of Surgery
Open access |
31 Aug 2005 |
325 |
| 41 |
Consensus-based recommendations for the management of juvenile dermatomyositis
Felicitas Bellutti Enders et al. · Annals of the Rheumatic Diseases
Open access |
11 Aug 2016 |
324 |
| 42 |
Diagnosis and classification of optic neuritis
Axel Petzold et al. · The Lancet Neurology
Open access101 authors |
27 Sep 2022 |
314 |
| 43 |
A proposal for an international retinoblastoma staging system
Guillermo Luis Chantada, François Doz, Célia Beatriz Gianotti Antoneli et al. · Pediatric Blood & Cancer
|
15 Dec 2005 |
301 |
| 44 |
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Nicole Revençu et al. · Human Mutation
Open access |
29 Aug 2013 |
298 |
| 45 |
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
Joerg Klepper et al. · Epilepsia Open
Open access |
27 Jun 2020 |
289 |
| 46 |
Long‐term outcome and prognostic factors of juvenile dermatomyositis: A multinational, multicenter study of 490 patients
Angelo Ravelli et al. · Arthritis Care & Research
Open access |
28 Dec 2009 |
287 |
| 47 |
Risk-adapted treatment for childhood hepatoblastoma
Giorgio Perilongo, E. Shafford, Rudolf C. Maibach et al. · European Journal of Cancer
|
13 Jan 2004 |
283 |
| 48 |
Recommendations for the management of autoinflammatory diseases
Nienke M. ter Haar et al. · Annals of the Rheumatic Diseases
Open access |
25 Jun 2015 |
278 |
| 49 |
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Hsien-Yang Lee et al. · Cell Reports
Open access |
2012 |
271 |
| 50 |
Treatment of neuromyelitis optica: Review and recommendations
Dorlan J. Kimbrough, Kazuo Fujihara, Anu Sam Jacob et al. · Multiple Sclerosis and Related Disorders
Open access |
31 Jul 2012 |
263 |