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Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Yoshimi Inaba, Amy S. Herlihy, Charles E. Schwartz, Cindy Skinner, Minh Bui, Joanna Cobb, E. Shi, David Francis, Alison Arvaj, David J. Amor,

Genetics in Medicine · 2012 · 20 citations · 31 references

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31

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

, , +12

Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis

Yuk Ming Dennis Lo, Mark Tein, Tze Kin Lau et al. · The American Journal of Human Genetics · 1998 · 1.6K citations

, , +11

Absence of expression of the FMR-1 gene in fragile X syndrome

Maura Pieretti, F Zhang, Ying‐Hui Fu et al. · Cell · 1991 · 1.5K citations

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Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark

Johannes Nielsen, M Wohlert · Human Genetics · 1991 · 1.2K citations

, , +12