Reuter, Miriam S.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Trost, B., Walker, S., Wang, Z., Thiruvahindrapuram, B., MacDonald, J. R., Sung, W. W. L., Pereira, S. L., Whitney, J., Chan, A. J. S., Pellecchia, G., et al. (2018) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 191

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, G., Jobling, R., Walker, S., Reuter, M. S., Snell, M., Bowdin, S., Cohn, R. D., Dupuis, L., Hewson, S., Mercimek-Andrews, S., et al. (2018) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 138

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Reuter, M. S., Jobling, R., Chaturvedi, R. R., Manshaei, R., Costain, G., Heung, T., Curtis, M., Hosseini, S. M., Liston, E., Lowther, C., et al. (2019) · Genetics in Medicine

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 85

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

Manshaei, R., Merico, D., Reuter, M. S., Engchuan, W., Mojarad, B. A., Chaturvedi, R., Heung, T., Pellecchia, G., Zarrei, M., Nalpathamkalam, T., et al. (2020) · Frontiers in Genetics

Genomics and Rare DiseasesCongenital heart defects research

Cited by 36

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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A distributed whole genome sequencing benchmark study

Corbett, R. D., Eveleigh, R., Whitney, J., Barai, N., Bourgey, M., Chuah, E., Johnson, J., Moore, R. A., Moradin, N., Mungall, K. L., et al. (2020) · Frontiers in Genetics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

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