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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
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all[original query]>>Original Studies[Product Type]
A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.
Jin Ju Kim et al. Clin Lab 2024 70(4)
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EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024
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Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.
Fernanda Mesa-Chavez et al. JCO Glob Oncol 2024 10e2300417
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Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Sara Torres-Esquius et al. JAMA Netw Open 2024 7(4) e247811
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Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center.
Hadeel Assad et al. Breast Cancer Res Treat 2024
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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Sonya Watson et al. Neurol Genet 2024 10(3) e200133
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Prevalence of elevated lipoprotein(a) in cardiac rehabilitation patients - results from a large-scale multicentre registry in Germany.
Christoph Altmann et al. Clin Res Cardiol 2024
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Awareness of sickle cell disease among nursing undergraduates in Farasan: Its interference with malaria.
Shabihul Fatma Sayed et al. J Family Med Prim Care 2024 13(2) 589-599
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Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392
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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
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Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
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Incremental value of automatically segmented perirenal adipose tissue for pathological grading of clear cell renal cell carcinoma: a multicenter cohort study.
Shichao Li et al. Int J Surg 2024
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Evaluation of the neoadjuvant chemotherapy response in osteosarcoma using the MRI DWI-based machine learning radiomics nomogram.
Lu Zhang et al. Front Oncol 2024 141345576
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Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.
Fernanda J Martin et al. Ecancermedicalscience 2024 181683
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024
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Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
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IMPACT OF ENDOSCOPIC TREATMENT IN SEVERE DUODENAL POLYPOSIS: A NATIONAL STUDY IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS.
Pierrine Le Bras et al. Clin Gastroenterol Hepatol 2024
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Early detection of nasopharyngeal carcinoma through machine-learning-driven prediction model in a population-based healthcare record database.
Jeng-Wen Chen et al. Cancer Med 2024 13(7) e7144
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A prediction model based on random survival forest analysis of the overall survival of elderly female papillary thyroid carcinoma patients: a SEER-based study.
Yuqiang Lun et al. Endocrine 2024
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Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study.
Jade Howard et al. Health Expect 2024 27(2) e14024
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The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.
Ajoy Oommen John et al. Eur J Hum Genet 2024
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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 45101049
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Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 73(12) 248-254
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024
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The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?
Natalia Campacci et al. Front Psychol 2024 151306388
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Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719
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Ensemble-imbalance-based classification for amyotrophic lateral sclerosis prognostic prediction: identifying short-survival patients at diagnosis.
Fabiano Papaiz et al. BMC Med Inform Decis Mak 2024 24(1) 80
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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