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Megan E. Grove

stanford university school of medicine
H指数:18
被引数:2,217

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Analytical validation of short-read genome sequencing for diagnostic panel and exome testing

短读基因组测序在诊断面板和外显子检测中的分析验证

2026-05-280
PRE
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling

通过基因组测序和RNA谱分析鉴定候选心肌病修饰基因

2025-08-100
OA
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock
2022-04-012
OA
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (vol 23, pg 2415, 2021)
2022-04-013
OAAI
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
2022-03-2848
OAAI
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

重症监护环境中的超微粒纳米孔基因组测序

2022-02-17111
OA
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
2021-12-019
OAAI
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

使用血液转录组测序和大型对照组鉴定罕见疾病基因

2019-06-03196
OAAI
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
2018-03-0164
OAAI
Long-read genome sequencing identifies causal structural variation in a Mendelian disease

长读基因组测序确定孟德尔疾病的因果结构变异

2018-01-01162
OAAI
Early somatic mosaicism is a rare cause of long-QT syndrome
2016-09-2836
OAAI
Clinical Interpretation and Implications of Whole-Genome Sequencing
2014-03-12376
OA