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您的检索式：作者名="Prokisch Holger"
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| 1 | ADPRHL2基因变异致应激诱发儿童癫痫-共济失调综合征一例显示文摘1例ADPRHL2基因变异致应激诱发儿童癫痫-共济失调综合征女性患儿,2岁时于感染后出现发作性步态异常,病情渐进展合并肢体无力,共济失调,周围神经病和小脑萎缩等,4岁9月龄首次入院,4岁11月龄因再次感染病情急剧进展,死于呼吸衰竭。其姐18月龄行走即出现步态异常,早期神经系统表现与患儿类似,13岁感染后出现癫痫和意识障碍等,治疗无效死亡。患儿及其姐ADPRHL2基因均存在c.309-1G>T纯合剪切变异。 | 徐曼婷 方方 Prokisch Holger 刘志梅 任晓暾 李久伟 冯卫星 曾健生 何乐健 | 2020 | 中华儿科杂志2020，58，6： | 2 |
| 2 | RNA sequencing role and application in clinical diagnostic显示文摘Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders. | Fatemeh Peymani Aiman Farzeen Holger Prokisch | 2022 | Pediatric Investigation2022，6，1： | 1 |
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