Katherine Robbins

Large offspring syndrome

Zhiyuan Chen, Katherine Robbins, Kevin D. Wells et al. · Epigenetics · 2013 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

Karen W. Gripp, Katherine Robbins, Nara Sobreira et al. · American Journal of Medical Genetics Part A · 2014 · 81 citations · Full text

Life Sciences, Genetics, Neurology +12

Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine

Katherine Robbins, Zhiyuan Chen, Kevin D. Wells et al. · Journal of Biomedical Science · 2012 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

Katherine Robbins, Deborah L. Stabley, Jennifer Holbrook et al. · American Journal of Medical Genetics Part A · 2016 · 29 citations

Life Sciences, Genetics, Molecular Genetics +17