Nicole Joyé

Author PubWeight™ 4.85‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011 1.62
2 Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet 2011 1.48
3 Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. Am J Med Genet A 2005 0.86
4 Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers. J Assist Reprod Genet 2013 0.80
5 Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers. Hum Reprod 2013 0.75