Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Fen Guo(Centre for Omic Sciences), Madhuri Hegde(Emory University), Yinghong Pan(Guangdong University of Technology), Rizwan Yousaf(University of Maryland, Baltimore), Naga Guruju, Lora Jh Bean(Emory University), Christin Collins, Xiangwen Chen‐Deutsch, Jorune Balciuniene(Children's Hospital of Philadelphia), Babi Ramesh Reddy Nallamilli(Emory University), Zeqiang Ma(Vanderbilt University), Ruby Liu, Cristina da Silva, Ephrem Chin(Emory University), Abhinav Mathur
Cited by 23
Related Papers
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
|Genetics in Medicine|2014|243
Integrated proteomics and metabolomics analysis of tea leaves fermented by Aspergillus niger, Aspergillus tamarii and Aspergillus fumigatus
|Food Chemistry|2020|186
An Integrated Metagenomics/Metaproteomics Investigation of the Microbial Communities and Enzymes in Solid-state Fermentation of Pu-erh tea
|Scientific Reports|2015|138
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
|The American Journal of Human Genetics|2012|124
A Bioinformatics Workflow for Variant Peptide Detection in Shotgun Proteomics
|Molecular & Cellular Proteomics|2011|109