Toriello, Helga V.
Spectrum Health · Corewell Health Blodgett Hospital · Michigan State University
3 papers on CoChatORCID 0000-0001-5831-7631
Most cited papers
- Verified
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 713
- Verified
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Williams, S. R., Aldred, M. A., Der Kaloustian, V. M., Halal, F., Gowans, G., McLeod, D. R., Zondag, S., Toriello, H. V., Magenis, R. E., & Elsea, S. H. (2010) · The American Journal of Human Genetics
Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders
Cited by 302
- Verified
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Hickey, S. E., Curry, C. J., & Toriello, H. V. (2013) · Genetics in Medicine
Folate and B Vitamins ResearchBlood Coagulation and Thrombosis Mechanisms
Cited by 175
Go further with a free account
Verify every reference, keep papers in a library, and ask questions across them.
Sign up - it is free