Health Supervision for Children and Adolescents with 16p11.2 Deletion Syndrome

2023-12-1

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature

2023-12-1

PD-L1⁺diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired<i>PMS2</i>mutation

2023-12-1

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera

2023-12-1

Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant

2023-11-29

Prostate Cancer Patient Stratification by Molecular Signatures in the Veterans Precision Oncology Data Commons

2023-11-22

Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach

2023-11-9

SYNCHRONOUS T-LYMPHOBLASTIC LYMPHOMA AND NEUROBLASTOMA IN A 3-YEAR-OLD WITH NOVEL GERMLINE SMARCA4 AND EZH2 VARIANTS

2023-11-6

DEEP MOLECULAR TRACKING OVER THE 12-YEAR DEVELOPMENT OF ENDOMETRIAL CANCER FROM HYPERPLASIA IN A SINGLE PATIENT

2023-10-17

ITPR1-Associated Spinocerebellar Ataxia with Craniofacial Features - Additional Evidence for Germline Mosaicism

2023-10-11

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system

2023-10-10

Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)

2023-9-20

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment

2023-9-14

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

2023-9-8

The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer

2023-8-31

Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young

2023-8-31

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy

2023-8-17

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

2023-8-16

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care

2023-6-1

Contributions of rare and common variation to early-onset and atypical dementia risk

2023-6-1

Clinical case report: mosaic<i>ANK3</i>pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay

2023-6-1

<i>FKBP14</i>kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report

2023-6-1

Evaluation of hypereosinophilia in a case of<i>FLT3</i>-mutant acute myeloid leukemia treated with gilteritinib

2023-6-1

Perinatal-lethal nonimmune fetal hydrops attributed to<i>MECOM</i>-associated bone marrow failure

2023-5-25

Mismatch repair–deficient glioma with spatially distinct IDH-mutant and IDH-wild type components arising in the setting of Lynch syndrome

2023-4-1

A familial<i>SAMD9</i>variant present in pediatric myelodysplastic syndrome

2023-4-1

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor

2023-4-1

Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia

2023-4-1

Melanoma in a patient with DNMT3A overgrowth syndrome

2023-4-1

Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma

2023-4-1

Progressive metastatic infantile fibrosarcoma with multiple acquired mutations

2023-3-30

Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation

2023-3-8

<i>PIK3CA</i>copy-number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer

2023-3-2

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in<i>P3H1</i>—further expansion of the phenotypic spectrum

2023-2-1

A novel<i>WFS1</i>variant associated with isolated congenital cataracts

2023-2-1

Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing

2023-2-1

Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression

2023-1-13

A<i>TRIP11:: FLT3</i>gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature

2023-1-10

Rapid genome sequencing identifies novel variants in complement factor I

2022-12-1

Whole-genome characterization of myoepithelial carcinomas of the soft tissue

2022-12-1

Two mutations in the<i>SBDS</i>gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms

2022-12-1

Case report: olaparib use in metastatic lung adenocarcinoma with<i>BRCA2</i>pathogenic variant

2022-12-1

Characterization of a novel deep-intronic variant in<i>DYNC2H1</i>identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

2022-11-28

Germline mosaicism in a family with<i>MBD5</i>haploinsufficiency

2022-11-17

Rapid genome sequencing identifies a novel de novo<i>SNAP25</i>variant for neonatal congenital myasthenic syndrome

2022-11-15

Identification of a novel large multigene deletion and a frameshift indel in<i>PDE6B</i>as the underlying cause of early-onset recessive rod–cone degeneration

2022-11-14

A novel biallelic loss-of-function variant in<i>DAND5</i>causes heterotaxy syndrome

2022-10-31

A missense, loss-of-function<i>YARS1</i>variant in a patient with proximal-predominant motor neuropathy

2022-10-28

Genetic diagnosis for adult patients at a genetic clinic

2022-10-20

Lorlatinib and compound mutations in ALK+ large-cell neuroendocrine lung carcinoma: a case report

2022-10-7