Ellen Wilch

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich et al. · The American Journal of Human Genetics · 2019 · 96 citations · Full text

Infertility, Andrology, Fertility +10

A novel DFNB1 deletion allele supports the existence of a distant <i>cis</i>‐regulatory region that controls <i>GJB2</i> and <i>GJB6</i> expression

Ellen Wilch, Héla Azaiez, R. A. Fisher et al. · Clinical Genetics · 2010 · 89 citations · Full text

Array Cgh, Genetics, Molecular Genetics +19

Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele

Ellen Wilch, Mei Zhu, Kirk B. Burkhart et al. · The American Journal of Human Genetics · 2006 · 68 citations · Full text

Novel Dfnb1 Allele, Gjb6 Is Reduced, Natural Sciences +9

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Atteeq U. Rehman, Regie Lyn P. Santos‐Cortez, Meghan C. Drummond et al. · European Journal of Human Genetics · 2014 · 38 citations · Full text

Disease Heterogeneity, Genetic Analysis, Haplotype Determination +13

Calculating basal thermal zones beneath the Antarctic ice sheet

Ellen Wilch, Terence J. Hughes · Journal of Glaciology · 2000 · 35 citations · Full text

Engineering, Geomorphology, Polar Environments +18