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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey
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Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases
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Clinically accessible amplitude-based multiplex ddPCR assay for tryptase genotyping
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Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant
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Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
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SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
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| Open AccessInvestigation of blood group genotype prevalence in Korean population using large genomic databases
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Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fya antigens
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Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
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Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
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The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
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Assessment of pathogenic variation in gynecologic cancer genes in a national cohort
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A genome-wide association study identifies a possible role for cannabinoid signalling in the pathogenesis of diabetic kidney disease
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A pangenome approach-based loop-mediated isothermal amplification assay for the specific and early detection of Bordetella pertussis
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Systematic review of NTRK 1/2/3 fusion prevalence pan-cancer and across solid tumours
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Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
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Sibling variation in polygenic traits and DNA recombination mapping with UK Biobank and IVF family data
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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
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Five years’ experience of the clinical exome sequencing in a Spanish single center
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Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
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Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
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SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
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Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
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Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
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Preoperative diagnosis of BRCA1/2 mutation impacts decision-making for risk-reducing mastectomy in breast cancer patients
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TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
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COVID-19’s natural course among ambulatory monitored outpatients
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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
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A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions
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Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
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Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia
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Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation
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Sample pooling as a strategy for community monitoring for SARS-CoV-2
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Early impact of donor CYP3A5 genotype and Graft-to-Recipient Weight Ratio on tacrolimus pharmacokinetics in pediatric liver transplant patients
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EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
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A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed
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Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome
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A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing
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Haptoglobin polymorphisms in Latin American populations
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Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy
- Chalirmporn Atasilp
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Exclusive use of digital PCR allows an absolute assay of heat-killed Lactobacilli in foods targeting multiple copies of 16S rDNA
- Takashi Soejima
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Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan
- Memoona Ramzan
- , Rasheeda Bashir
- & Sadaf Naz
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Genetic spectrum of retinal dystrophies in Tunisia
- Imen Habibi
- , Yosra Falfoul
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Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome
- Maddalena Casale
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Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry
- Ruth I. Tennen
- , Sarah B. Laskey
- & Joyce Y. Tung
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants