Mark, Paul R.
Helen DeVos Children's Hospital · Corewell Health
3 papers on CoChatORCID 0000-0002-1020-888X
Most cited papers
- Verified
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics
Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms
Cited by 667
- Verified
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., Lim, C. K., Szot, J. O., Ip, E., Hughes, J. N., et al. (2017) · New England Journal of Medicine
Metabolism and Genetic DisordersGenomics and Rare Diseases
Cited by 246
- Verified
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., Cogne, B., Feldman, H. B., Horn, A. H. C., Hurst, A. C. E., et al. (2024) · Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 7
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