Gabriel, Stacey

Phenotypic extremes in rare variant study designs

Peloso, G. M., Rader, D. J., Gabriel, S., Kathiresan, S., Daly, M. J., & Neale, B. M. (2016) · European Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 58

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Guo, M. H., Nandakumar, S. K., Ulirsch, J. C., Zekavat, S. M., Buenrostro, J. D., Natarajan, P., Salem, R. M., Chiarle, R., Mitt, M., Kals, M., et al. (2017) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 54

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Khalil, R., Kenny, C., Hill, R. S., Mochida, G. H., Nasir, R., Partlow, J. N., Barry, B. J., Al‐Saffar, M., Egan, C., Stevens, C. R., et al. (2018) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 39

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

Cited by 33

Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 24