Caro-Lyne DesRoches

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

Theodora U. J. Bruun, Caro-Lyne DesRoches, Diane Wilson et al. · Genetics in Medicine · 2017 · 51 citations · Full text

Genetic Disorder, Whole-exome Sequencing, Genetics +8

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang et al. · Gene · 2015 · 39 citations

Creatine Transporter Deficiency, Genetic Disorder, Genetics +10

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang et al. · Molecular Genetics and Genomics · 2015 · 27 citations

Carrier Frequency, Allelic Variant, Genetic Disorder +8