1.3(top 50%)
impact factor
492(top 50%)
papers
4.7K(top 20%)
citations
30(top 20%)
h-index
1.3(top 50%)
impact factor
546
all documents
5.4K
doc citations
46(top 20%)
g-index

Top Articles

#TitleJournalYearCitations
1Metabolomics: an emerging but powerful tool for precision medicineJournal of Physical Education and Sports Management2015373
2ALK: a tyrosine kinase target for cancer therapyJournal of Physical Education and Sports Management2017131
3Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancersJournal of Physical Education and Sports Management201592
4Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypesJournal of Physical Education and Sports Management201861
5Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsyJournal of Physical Education and Sports Management201960
6Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplificationJournal of Physical Education and Sports Management201657
7Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancerJournal of Physical Education and Sports Management201754
8Distinctly perturbed metabolic networks underlie differential tumor tissue damages induced by immune modulator β-glucan in a two-case ex vivo non-small-cell lung cancer studyJournal of Physical Education and Sports Management201652
9De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyJournal of Physical Education and Sports Management201551
10Long-term changes of bacterial and viral compositions in the intestine of a recovered Clostridium difficile patient after fecal microbiota transplantationJournal of Physical Education and Sports Management201650
11Personalized cancer therapy—leveraging a knowledge base for clinical decision-makingJournal of Physical Education and Sports Management201850
12De novo mutations in PURA are associated with hypotonia and developmental delayJournal of Physical Education and Sports Management201548
13Analysis of intrapatient heterogeneity uncovers the microevolution of Middle East respiratory syndrome coronavirusJournal of Physical Education and Sports Management201648
14Diagnosing rare diseases after the exomeJournal of Physical Education and Sports Management201848
15Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier caseJournal of Physical Education and Sports Management201547
16Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinibJournal of Physical Education and Sports Management201847
17A novel de novo mutation inATP1A3and childhood-onset schizophreniaJournal of Physical Education and Sports Management201646
18A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1Journal of Physical Education and Sports Management201645
19Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common originJournal of Physical Education and Sports Management201845
20Hematologic malignancies and Li–Fraumeni syndromeJournal of Physical Education and Sports Management201945
21De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresJournal of Physical Education and Sports Management201642
22A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variantsJournal of Physical Education and Sports Management201941
23Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcomaJournal of Physical Education and Sports Management201539
24Understanding physical activity in cancer patients and survivors: new methodology, new challenges, and new opportunitiesJournal of Physical Education and Sports Management201737
25Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistanceJournal of Physical Education and Sports Management201936
26AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantJournal of Physical Education and Sports Management201734
27Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage diseaseJournal of Physical Education and Sports Management201934
28Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseJournal of Physical Education and Sports Management201633
29Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndromeJournal of Physical Education and Sports Management201733
30The impact of hereditary cancer gene panels on clinical care and lessons learnedJournal of Physical Education and Sports Management201733
31Germline SDHA mutations in children and adults with cancerJournal of Physical Education and Sports Management201833
32Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesisJournal of Physical Education and Sports Management201933
33Capturing phenotypes for precision medicineJournal of Physical Education and Sports Management201532
34A recurrent novel MGA–NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcomaJournal of Physical Education and Sports Management201832
35De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresJournal of Physical Education and Sports Management201631
36Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencingJournal of Physical Education and Sports Management201830
37A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndromeJournal of Physical Education and Sports Management201829
38The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsJournal of Physical Education and Sports Management201829
39Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic featuresJournal of Physical Education and Sports Management201829
40Refractory and metastatic infantile fibrosarcoma harboring LMNA–NTRK1 fusion shows complete and durable response to crizotinibJournal of Physical Education and Sports Management201929
41De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autismJournal of Physical Education and Sports Management201728
42De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayJournal of Physical Education and Sports Management201527
43Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1CJournal of Physical Education and Sports Management201727
44Personalized prescription of imatinib in recurrent granulosa cell tumor of the ovary: case reportJournal of Physical Education and Sports Management201927
45Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)Journal of Physical Education and Sports Management202027
46Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcomaJournal of Physical Education and Sports Management201926
47RNA sequencing profiles and diagnostic signatures linked with response to ramucirumab in gastric cancerJournal of Physical Education and Sports Management202026
48A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytomaJournal of Physical Education and Sports Management201725
49A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agentsJournal of Physical Education and Sports Management201725
50Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJournal of Physical Education and Sports Management201925