Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

Por Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Publicado em 2009

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms

Por Tang, Guilin, Lu, Xinyan, Wang, Sa A, Roney, Erin K, Zhang, Liping, Hu, Shimin, Lu, Gary, Medeiros, L Jeffrey, Patel, Ankita
Publicado em 2014

Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q

Por Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai
Publicado em 2011

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage – fusion - bridge for telomere stabilization

Por Yatsenko, Svetlana A., Hixson, Patricia, Roney, Erin K., Scott, Daryl A., Schaaf, Christian P., Ng, Yu-tze, Palmer, Robbin, Fisher, Richard B., Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Publicado em 2012

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

Por Soler-Alfonso, Claudia, Carvalho, Claudia MB, Ge, Jun, Roney, Erin K, Bader, Patricia I, Kolodziejska, Katarzyna E, Miller, Rachel M, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Bi, Weimin, Schaaf, Christian P
Publicado em 2014

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

Por Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai
Publicado no Eur J Hum Genet (2014)

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

Por Liu, Pengfei, Gelowani, Violet, Zhang, Feng, Drory, Vivian E., Ben-Shachar, Shay, Roney, Erin, Medeiros, Adam C., Moore, Rebecca J., DiVincenzo, Christina, Burnette, William B., Higgins, Joseph J., Li, Jun, Orr-Urtreger, Avi, Lupski, James R.
Publicado em 2014

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Por Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y
Publicado no eLife (2015)