Susan Arbuckle

A Robust Assay for Alternative Lengthening of Telomeres in Tumors Shows the Significance of Alternative Lengthening of Telomeres in Sarcomas and Astrocytomas

Jeremy D. Henson, Jonathan Hannay, Stanley W. McCarthy et al. · Clinical Cancer Research · 2005 · 299 citations · Full text

Life Sciences, Molecular Biology, Oncology +16

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens et al. · Genome Research · 2012 · 161 citations · Full text

Medicine, Genetics, Molecular Genetics +17

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

Fatih Özaltın, Binghua Li, Alysha Rauhauser et al. · Journal of the American Society of Nephrology · 2012 · 145 citations · Full text

Medicine, Molecular Genetics, Pathology +17

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan et al. · The American Journal of Human Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +2