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Publications by Yanjie Fan
Uniparental Isodisomy Caused Autosomal Recessive Diseases: NGS‐based Analysis Allows the Concurrent Detection of Homogenous Variants and Copy‐neutral Loss of Heterozygosity
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Novel PYGL Mutations in Chinese Children Leading to Glycogen Storage Disease Type VI: Two Case Reports
BMC Medical Genetics
Genetics
Related publications
Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays
European Journal of Human Genetics
Genetics
Genotype-Phenotype Correlation Analysis of MYO15A Variants in Autosomal Recessive Non-Syndromic Hearing Loss
BMC Medical Genetics
Genetics
Uniparental Isodisomy as a Cause of Recessive Mendelian Disease: A Diagnostic Pitfall With a Quick and Easy Solution in Medium/Large NGS Analyses
European Journal of Human Genetics
Genetics
Copy-Neutral Loss of Heterozygosity Is Prevalent and a Late Event in the Pathogenesis of FLT3/ITD AML
Blood Cancer Journal
Oncology
Hematology
Clonal Evolution and Clinical Significance of Copy Number Neutral Loss of Heterozygosity of Chromosome Arm 6p in Acquired Aplastic Anemia
Cancer genetics
Cancer Research
Genetics
Molecular Biology
Clonal Evolution and Clinical Significance of Copy Number Neutral Loss of Heterozygosity of Chromosome Arm 6p in Acquired Aplastic Anemia
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Comprehensive Analysis of Deafness Genes in Families With Autosomal Recessive Nonsyndromic Hearing Loss
PLoS ONE
Multidisciplinary
Genetic Instability in Lung Cancer: Concurrent Analysis of Chromosomal, Mini- And Microsatellite Instability and Loss of Heterozygosity
British Journal of Cancer
Cancer Research
Oncology
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
