Jessica L. Buxton

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

Identification of seven loci affecting mean telomere length and their association with disease

Veryan Codd, Christopher P. Nelson, Eva Albrecht et al. · Nature Genetics · 2013 · 949 citations · Full text

Genetic Disorder, Genetics, Mean Telomere Length +5

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 554 citations · Full text

Obesity, Metabolic Syndrome, Childhood Obesity +9

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

Charalampos Aslanidis, Gert Jansen, Chris T. Amemiya et al. · Nature · 1992 · 499 citations

Rare Diseases, Mendelian Disorder, Medicine +7

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Momoko Horikoshi, Hanieh Yaghootkar, Dennis O. Mook‐Kanamori et al. · Nature Genetics · 2012 · 317 citations · Full text

Adult Height, Developmental Biology, Body Composition +11