molecular biology research
For further reading, these links describe our discoveries of previously unknown human gene mutations:
- Sills ES, Sholes TE, Perloe M et al. Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. International Journal of Molecular Medicine 2002 Jan;9(1):45-8.
2. Walsh DJ, Sills ES, Lambert DM et al. Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome. Molecular Medicine Reports 2010 Mar-Apr;3(2):223-6.
3. Sills ES, Cotter PD, Marron KD et al. Ovarian dysgenesis associated with an unbalanced X;6 translocation: first characterisation of reproductive anatomy and cytogenetic evaluation in partial trisomy 6 with breakpoints at Xq22 and 6p23. Molecular Medicine Reports 2012 Jan;5(1):29-31.
4. Sills ES, Obregon-Tito AJ, Gao H et al. Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization. Clinical & Experimental Reproductive Medicine 2017 Mar;44(1):40-46.
5. Sills ES, Burns MJ, Parker LD et al. Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy. Orphanet Journal of Rare Diseases 2007 Feb 12;2:9.