Duane Superneau
Woman's Hospital(US)
Publications by Year
Research Areas
Neurofibromatosis and Schwannoma Cases, Genomic variations and chromosomal abnormalities, Meningioma and schwannoma management, Genomics and Rare Diseases, Craniofacial Disorders and Treatments
Most-Cited Works
- → Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22(1987)484 cited
- → Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation(2007)290 cited
- → Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome(2011)171 cited
- → Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred(1988)164 cited
- Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.(1990)
- → Fertility and the cri du chat syndrome(1993)83 cited
- → Meier-Gorlin syndrome: Report of eight additional cases and review(2001)75 cited
- → Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?(1999)66 cited
- → Myopathy in Marinesco-Sjogren Syndrome(1987)59 cited
- → Genome sequencing as a first-line diagnostic test for hospitalized infants(2021)54 cited