Evgenia Pak

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W. Ted Brown, Leslie B. Gordon et al. · Nature · 2003 · 2.2K citations · Full text

Medicine, Genetics, Molecular Genetics +5

Telomere-to-telomere assembly of a complete human X chromosome

Karen H. Miga, Sergey Koren, Arang Rhie et al. · Nature · 2020 · 832 citations · Full text

Life Sciences, Biology, Genetics +17

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

Zhengping Zhuang, Won-Sang Park, Svetlana Pack et al. · Nature Genetics · 1998 · 292 citations

Medicine, Genetics, Urology +17

Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study

Simon D. Tran, Stanley R. Pillemer, Amalia Dutra et al. · The Lancet · 2003 · 185 citations

Life Sciences, Cell Biology, Molecular Biology +11