A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

by Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin
Published 2020-01-01

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

by Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger
Published 2013-01-01

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

by Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz
Published 2014-01-01

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

by Sohela Shah, Laura K Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A S Knisely, Michael T Mennuti, Randolph P Matthews, Nancy B Spinner, Laura N Bull
Published 2013-01-01