| 1 |
Anti-GD2 Antibody with GM-CSF, Interleukin-2, and Isotretinoin for Neuroblastoma
Alice Lin-Tsing Yu, Andrew Lee Gilman, Mehmet Fevzi Ozkaynak et al. · New England Journal of Medicine
Open access |
29 Sep 2010 |
1,845 |
| 2 |
Clinical Practice Guideline for the Diagnosis and Management of Group A Streptococcal Pharyngitis: 2012 Update by the Infectious Diseases Society of America
Stanford T. Shulman, Alan L. Bisno, Herbert W. Clegg et al. · Clinical Infectious Diseases
Open access |
9 Sep 2012 |
1,106 |
| 3 |
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine
Open access |
Jul 2021 |
658 |
| 4 |
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al. · New England Journal of Medicine
Open access |
12 Sep 2012 |
645 |
| 5 |
Executive Summary: Clinical Practice Guideline for the Diagnosis and Management of Group A Streptococcal Pharyngitis: 2012 Update by the Infectious Diseases Society of America
Stanford T. Shulman, Alan L. Bisno, Herbert W. Clegg et al. · Clinical Infectious Diseases
|
9 Sep 2012 |
534 |
| 6 |
Guidelines for the Treatment of Latent Tuberculosis Infection: Recommendations from the National Tuberculosis Controllers Association and CDC, 2020
Timothy R. Sterling, Gibril J. Njie, Dominik Zenner et al. · MMWR Recommendations and Reports
Open access |
13 Feb 2020 |
506 |
| 7 |
Mechanisms of imprinting of the Prader–Willi/Angelman region
Bernhard Horsthemke, Joseph E. Wagstaff · American Journal of Medical Genetics Part A
|
14 Jul 2008 |
324 |
| 8 |
Management of Childhood Onset Nephrotic Syndrome
Debbie S. Gipson, Susan F. Massengill, Lynne P. Yao et al. · PEDIATRICS
|
27 Jul 2009 |
318 |
| 9 |
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh et al. · Genetics in Medicine
Open access |
27 Jul 2017 |
303 |
| 10 |
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Lisa R. Forbes et al. · Journal of Allergy and Clinical Immunology
Open access |
6 Aug 2018 |
273 |
| 11 |
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Shay Ben‐Shachar et al. · Journal of Medical Genetics
Open access |
15 Mar 2009 |
266 |
| 12 |
Clinical Practice Guideline: Maintenance Intravenous Fluids in Children
Leonard G. Feld, Daniel Robert Neuspiel, Byron Alexander Foster et al. · PEDIATRICS
|
26 Nov 2018 |
259 |
| 13 |
Consensus Treatment Plans for Chronic Nonbacterial Osteomyelitis Refractory to Nonsteroidal Antiinflammatory Drugs and/or With Active Spinal Lesions
Yongdong Zhao et al. · Arthritis Care & Research
Open access |
7 Nov 2017 |
244 |
| 14 |
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
Adriana A. de Jesus et al. · Journal of Clinical Investigation
Open access |
24 Dec 2019 |
242 |
| 15 |
Vaccine-Acquired Rotavirus in Infants with Severe Combined Immunodeficiency
Niraj Patel, Paula Marie Hertel, Mary Kolb Estes et al. · New England Journal of Medicine
Open access |
27 Jan 2010 |
217 |
| 16 |
Tofacitinib in juvenile idiopathic arthritis: a double-blind, placebo-controlled, withdrawal phase 3 randomised trial
Nicolino Ruperto et al. · The Lancet
Open access |
Nov 2021 |
199 |
| 17 |
Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
Patricia L. Devers, Amy Cronister, Kelly E. Ormond et al. · Journal of Genetic Counseling
Open access |
21 Jan 2013 |
197 |
| 18 |
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
David Boutboul et al. · Journal of Clinical Investigation
Open access |
10 Jun 2018 |
171 |
| 19 |
First-attempt success rate of video laryngoscopy in small infants (VISI): a multicentre, randomised controlled trial
Annery G. García‐Marcinkiewicz et al. · The Lancet
|
Dec 2020 |
170 |
| 20 |
Self-Management and Transition Readiness Assessment: Development, Reliability, and Factor Structure of the STARx Questionnaire
Michael Ted Ferris, M.T. Ferris, Cohen Sj et al. · Journal of Pediatric Nursing
|
22 Jul 2015 |
170 |
| 21 |
Underutilization of epilepsy surgery: Part I: A scoping review of barriers
Debopam Samanta, Adam P. Ostendorf, Erin Willis et al. · Epilepsy & Behavior
Open access |
21 Feb 2021 |
157 |
| 22 |
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency
Anirban Das et al. · Nature Medicine
Open access |
2022 |
155 |
| 23 |
Psychosocial Interventions and Therapeutic Support as a Standard of Care in Pediatric Oncology
Amii C. Steele, Larry L. Mullins, Alexandria J. Mullins et al. · Pediatric Blood & Cancer
Open access |
Dec 2015 |
152 |
| 24 |
Phase I Study of ch14.18 With Granulocyte-Macrophage Colony-Stimulating Factor and Interleukin-2 in Children With Neuroblastoma After Autologous Bone Marrow Transplantation or Stem-Cell Rescue: A Report From the Children's Oncology Group
Andrew Lee Gilman, Mehmet Fevzi Ozkaynak, Katherine K. Matthay et al. · Journal of Clinical Oncology
Open access |
2 Dec 2008 |
152 |
| 25 |
Principles of Pediatric Patient Safety: Reducing Harm Due to Medical Care
Brigitta Ursula Mueller et al. · PEDIATRICS
|
22 Jan 2019 |
150 |
| 26 |
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Yu Nee Lee et al. · Journal of Allergy and Clinical Immunology
Open access |
28 Nov 2013 |
148 |
| 27 |
Hyperuricemia and Progression of CKD in Children and Adolescents: The Chronic Kidney Disease in Children (CKiD) Cohort Study
Kyle E. Rodenbach, Michael F. Schneider, Susan L. Furth et al. · American Journal of Kidney Diseases
Open access |
21 Jul 2015 |
147 |
| 28 |
A Phase I Trial of DFMO Targeting Polyamine Addiction in Patients with Relapsed/Refractory Neuroblastoma
Giselle L. Saulnier Sholler et al. · PLoS ONE
Open access |
27 May 2015 |
145 |
| 29 |
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Tiziana Lorenzini et al. · Journal of Allergy and Clinical Immunology
Open access242 authors |
9 Apr 2020 |
137 |
| 30 |
Successful matched sibling donor marrow transplantation following reduced intensity conditioning in children with hemoglobinopathies
Allison A. King et al. · American Journal of Hematology
|
8 Sep 2015 |
133 |
| 31 |
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Eric G. Bend et al. · Clinical Epigenetics
Open access |
27 Apr 2019 |
131 |
| 32 |
Characterization of T and B cell repertoire diversity in patients with RAG deficiency
Yu Nee Lee et al. · Science Immunology
Open access |
17 Dec 2016 |
119 |
| 33 |
Outcome of children with multiply relapsed B-cell acute lymphoblastic leukemia: a therapeutic advances in childhood leukemia & lymphoma study
Weili Sun et al. · Leukemia
Open access |
15 Mar 2018 |
117 |
| 34 |
Reducing Central Line–Associated Bloodstream Infections in North Carolina NICUs
David G. Fisher, Keith M. Cochran, Lloyd Provost et al. · PEDIATRICS
|
19 Nov 2013 |
114 |
| 35 |
Maintenance DFMO Increases Survival in High Risk Neuroblastoma
Giselle L. Saulnier Sholler et al. · Scientific Reports
Open access |
21 Sep 2018 |
110 |
| 36 |
Clinical outcomes and survival in pediatric patients initiating chronic dialysis: a report of the NAPRTCS registry
Donald J. Weaver, Michael J.G. Somers, Karen L Martz et al. · Pediatric Nephrology
|
31 Jul 2017 |
110 |
| 37 |
Reduced-intensity conditioning for hematopoietic cell transplant for HLH and primary immune deficiencies
Carl E. Allen, Rebecca A. Marsh, Peter M Dawson et al. · Blood
Open access |
11 Jul 2018 |
109 |
| 38 |
Cardiovascular complications in children with chronic kidney disease
Rukshana C. Shroff, Donald J. Weaver, Mark M. Mitsnefes · Nature Reviews Nephrology
Review |
13 Sep 2011 |
106 |
| 39 |
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Juan C. Ravell et al. · Journal of Clinical Investigation
Open access |
12 Nov 2019 |
104 |
| 40 |
Self-Management and Transition Readiness Assessment: Concurrent, Predictive and Discriminant Validation of the STARx Questionnaire
Sarah E. Cohen, Stephen R. Hooper, Karina Javalkar et al. · Journal of Pediatric Nursing
|
10 Jul 2015 |
104 |
| 41 |
Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Feng Zhang, Lorraine Potocki, Jacinda B. Sampson et al. · The American Journal of Human Genetics
Open access |
26 Feb 2010 |
100 |
| 42 |
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Jennifer R. Malinowski, David T. Miller, Laurie Demmer et al. · Genetics in Medicine
Open access |
22 Mar 2020 |
99 |
| 43 |
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry
Yaël Gernez, Alexandra F. Freeman, Steven M. Holland et al. · The Journal of Allergy and Clinical Immunology In Practice
Open access |
20 Sep 2017 |
99 |
| 44 |
Randomized Controlled Feasibility Trial of Intranasal Ketamine Compared to Intranasal Fentanyl for Analgesia in Children with Suspected Extremity Fractures
Stacy L. Reynolds, Kathleen Bryant, Jonathan R. Studnek et al. · Academic Emergency Medicine
|
19 Sep 2017 |
96 |
| 45 |
Diagnostic Performance of MR Elastography for Liver Fibrosis in Children and Young Adults with a Spectrum of Liver Diseases
Andrew T. Trout, Rachel M. Sheridan, Suraj D. Serai et al. · Radiology
|
22 Feb 2018 |
95 |
| 46 |
Peripherally Inserted Central Catheter Complications in Neonates With Upper Versus Lower Extremity Insertion Sites
Della Daugherty Wrightson · Advances in Neonatal Care
|
30 May 2013 |
95 |
| 47 |
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio et al. · The American Journal of Human Genetics
Open access114 authors |
16 Feb 2021 |
93 |
| 48 |
A Comprehensive Safety Trial of Chimeric Antibody 14.18 With GM-CSF, IL-2, and Isotretinoin in High-Risk Neuroblastoma Patients Following Myeloablative Therapy: Children’s Oncology Group Study ANBL0931
Mehmet Fevzi Ozkaynak, Andrew Lee Gilman, Wendy B. London et al. · Frontiers in Immunology
Open access |
18 Jun 2018 |
91 |
| 49 |
Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) for Children, Adolescents, and Young Adults: The First 50 Cases
Andrea Anita Hayes-Jordan, Holly Green, Heather Yan Lin et al. · Annals of Surgical Oncology
|
6 Jan 2015 |
91 |
| 50 |
Genome‐Wide Association Meta‐Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci
Laura A. McIntosh et al. · Arthritis & Rheumatology
Open access |
18 Jul 2017 |
87 |