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The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer [PRECISION MEDICINE IN PRACTICE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
PD-L1+ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants [RAPID CANCER COMMUNICATION]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant [RESEARCH ARTICLE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy [VARIANT DISCREPANCY RESOLUTION]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy [RESEARCH ARTICLE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system [RAPID COMMUNICATION]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
ITPR1-associated spinocerebellar ataxia with craniofacial features--additional evidence for germline mosaicism [RESEARCH ARTICLE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL) [RESEARCH ARTICLE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young [VARIANT DISCREPANCY RESOLUTION]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera [RESEARCH ARTICLE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Health supervision for children and adolescents with 16p11.2 deletion syndrome [PRECISION MEDICINE IN PRACTICE]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Contributions of rare and common variation to early-onset and atypical dementia risk [FOLLOW-UP REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Evaluation of hypereosinophilia in a case of FLT3-mutant acute myeloid leukemia treated with gilteritinib [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care [MINI-REVIEW]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient {alpha}{beta} T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of {gamma}{delta} T-cell large granular lymphocytic leukemia [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation [MINI-REVIEW]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
PIK3CA copy-number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
A familial SAMD9 variant present in pediatric myelodysplastic syndrome [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma [RESEARCH REPORT]
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present g...
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