# | Title | Journal | Year | Citations |
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1 | Metabolomics: an emerging but powerful tool for precision medicine | Journal of Physical Education and Sports Management | 2015 | 373 |
2 | ALK: a tyrosine kinase target for cancer therapy | Journal of Physical Education and Sports Management | 2017 | 131 |
3 | Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers | Journal of Physical Education and Sports Management | 2015 | 92 |
4 | Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes | Journal of Physical Education and Sports Management | 2018 | 61 |
5 | Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy | Journal of Physical Education and Sports Management | 2019 | 60 |
6 | Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification | Journal of Physical Education and Sports Management | 2016 | 57 |
7 | Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer | Journal of Physical Education and Sports Management | 2017 | 54 |
8 | Distinctly 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 study | Journal of Physical Education and Sports Management | 2016 | 52 |
9 | De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly | Journal of Physical Education and Sports Management | 2015 | 51 |
10 | Long-term changes of bacterial and viral compositions in the intestine of a recovered Clostridium difficile patient after fecal microbiota transplantation | Journal of Physical Education and Sports Management | 2016 | 50 |
11 | Personalized cancer therapy—leveraging a knowledge base for clinical decision-making | Journal of Physical Education and Sports Management | 2018 | 50 |
12 | De novo mutations in PURA are associated with hypotonia and developmental delay | Journal of Physical Education and Sports Management | 2015 | 48 |
13 | Analysis of intrapatient heterogeneity uncovers the microevolution of Middle East respiratory syndrome coronavirus | Journal of Physical Education and Sports Management | 2016 | 48 |
14 | Diagnosing rare diseases after the exome | Journal of Physical Education and Sports Management | 2018 | 48 |
15 | Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier case | Journal of Physical Education and Sports Management | 2015 | 47 |
16 | Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib | Journal of Physical Education and Sports Management | 2018 | 47 |
17 | A novel de novo mutation inATP1A3and childhood-onset schizophrenia | Journal of Physical Education and Sports Management | 2016 | 46 |
18 | A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 | Journal of Physical Education and Sports Management | 2016 | 45 |
19 | Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin | Journal of Physical Education and Sports Management | 2018 | 45 |
20 | Hematologic malignancies and Li–Fraumeni syndrome | Journal of Physical Education and Sports Management | 2019 | 45 |
21 | De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features | Journal of Physical Education and Sports Management | 2016 | 42 |
22 | A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants | Journal of Physical Education and Sports Management | 2019 | 41 |
23 | Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma | Journal of Physical Education and Sports Management | 2015 | 39 |
24 | Understanding physical activity in cancer patients and survivors: new methodology, new challenges, and new opportunities | Journal of Physical Education and Sports Management | 2017 | 37 |
25 | Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance | Journal of Physical Education and Sports Management | 2019 | 36 |
26 | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant | Journal of Physical Education and Sports Management | 2017 | 34 |
27 | Dramatic 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 disease | Journal of Physical Education and Sports Management | 2019 | 34 |
28 | Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease | Journal of Physical Education and Sports Management | 2016 | 33 |
29 | Novel 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 syndrome | Journal of Physical Education and Sports Management | 2017 | 33 |
30 | The impact of hereditary cancer gene panels on clinical care and lessons learned | Journal of Physical Education and Sports Management | 2017 | 33 |
31 | Germline SDHA mutations in children and adults with cancer | Journal of Physical Education and Sports Management | 2018 | 33 |
32 | Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis | Journal of Physical Education and Sports Management | 2019 | 33 |
33 | Capturing phenotypes for precision medicine | Journal of Physical Education and Sports Management | 2015 | 32 |
34 | A recurrent novel MGA–NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcoma | Journal of Physical Education and Sports Management | 2018 | 32 |
35 | De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features | Journal of Physical Education and Sports Management | 2016 | 31 |
36 | Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing | Journal of Physical Education and Sports Management | 2018 | 30 |
37 | A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome | Journal of Physical Education and Sports Management | 2018 | 29 |
38 | The 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 infections | Journal of Physical Education and Sports Management | 2018 | 29 |
39 | Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features | Journal of Physical Education and Sports Management | 2018 | 29 |
40 | Refractory and metastatic infantile fibrosarcoma harboring LMNA–NTRK1 fusion shows complete and durable response to crizotinib | Journal of Physical Education and Sports Management | 2019 | 29 |
41 | De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism | Journal of Physical Education and Sports Management | 2017 | 28 |
42 | De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay | Journal of Physical Education and Sports Management | 2015 | 27 |
43 | Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C | Journal of Physical Education and Sports Management | 2017 | 27 |
44 | Personalized prescription of imatinib in recurrent granulosa cell tumor of the ovary: case report | Journal of Physical Education and Sports Management | 2019 | 27 |
45 | Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092) | Journal of Physical Education and Sports Management | 2020 | 27 |
46 | Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma | Journal of Physical Education and Sports Management | 2019 | 26 |
47 | RNA sequencing profiles and diagnostic signatures linked with response to ramucirumab in gastric cancer | Journal of Physical Education and Sports Management | 2020 | 26 |
48 | A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma | Journal of Physical Education and Sports Management | 2017 | 25 |
49 | A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents | Journal of Physical Education and Sports Management | 2017 | 25 |
50 | Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles | Journal of Physical Education and Sports Management | 2019 | 25 |