| scholarly article | Q13442814 |
| P2093 | author name string | Fang Fang | |
| Xiang Shen | |||
| Xu Wang | |||
| Hao Zhang | |||
| Chang-Hong Ding | |||
| Zhen-Hua Cao | |||
| Dong-Yan An | |||
| P2860 | cites work | Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene | Q21092439 |
| Analysis of genetic inheritance in a family quartet by whole-genome sequencing | Q22065898 | ||
| Clinical assessment incorporating a personal genome | Q24612653 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Disease gene identification strategies for exome sequencing | Q26866283 | ||
| Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1 | Q28138167 | ||
| DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG) | Q28204778 | ||
| Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy | Q30156928 | ||
| SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature | Q30884225 | ||
| Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. | Q31116359 | ||
| Association of NCAM1 polymorphisms with autism and parental age at conception in a Chinese Han population | Q34283906 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Rare Disease Day - at a glance | Q35146976 | ||
| Whole-genome sequencing for optimized patient management | Q35857612 | ||
| The new cytogenetics: blurring the boundaries with molecular biology | Q36250557 | ||
| Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing | Q36401981 | ||
| Why rare diseases are an important medical and social issue | Q37191857 | ||
| Diagnostic clinical genome and exome sequencing | Q38221192 | ||
| Rare diseases are a 'common' problem for clinicians | Q38612928 | ||
| The clinical and genetic characteristics in children with mitochondrial disease in China | Q38714575 | ||
| Rare essentials: drugs for rare diseases as essential medicines | Q40266380 | ||
| Practical considerations in the clinical application of whole-exome sequencing | Q41441536 | ||
| A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect | Q42513648 | ||
| The importance of rare diseases: from the gene to society. | Q43793946 | ||
| Candidate-gene approaches for studying complex genetic traits: practical considerations | Q44636099 | ||
| Paediatric genomics: diagnosing rare disease in children | Q49339134 | ||
| Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex. | Q50580930 | ||
| Detection of clinically relevant copy number variants with whole-exome sequencing. | Q51181347 | ||
| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. | Q52622713 | ||
| MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
| Application of genome analysis strategies in the clinical testing for pediatric diseases | Q64043699 | ||
| Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing | Q88130657 | ||
| A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency | Q91140202 | ||
| [Diagnosis of mitochondrial disorders in children with next generation sequencing] | Q95537594 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1529 | |
| P577 | publication date | 2018-01-01 | |
| P1433 | published in | Frontiers in Pharmacology | Q2681208 |
| P1476 | title | Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease | |
| P478 | volume | 9 |
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