Rachel Cox

发表

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

New applications of the Comet assay: Comet-FISH and transcription-coupled DNA repair.

P. Hanawalt, Rachel Cox, G. Spivak, 2009, Mutation research.

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

G. Enns, J. Platt, Rachel Cox, 2016, Journal of Genetic Counseling.

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

Bradley L Schlaggar, Amy Robichaux-Viehoever, B. Schlaggar, 2016, Pediatric neurology.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Gregory M. Enns, Lance H. Rodan, Wendy K. Chung, 2015, Cold Spring Harbor molecular case studies.

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.

Li Chieh Chen, G. Enns, J. Platt, 2012, Mitochondrion.

Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

G. Enns, J. Platt, Rachel Cox, 2014, Journal of Genetic Counseling.

Clinical whole-exome sequencing: are we there yet?

Jonathan A. Bernstein, Gregory M. Enns, Paldeep S. Atwal, 2014, Genetics in Medicine.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

New applications of the Comet assay: Comet-FISH and transcription-coupled DNA repair.

P. Hanawalt, Rachel Cox, G. Spivak, 2009, Mutation research.