Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance between selective advantage, selective disadvantage and genetic drift. When...
Stankiewicz, Pawel, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...
Serial segmental duplications during primate evolution result in complex human genome architecture
Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...
Serial segmental duplications during primate evolution result in complex human genome architecture
Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...
Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements
Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, ...
To investigate the potential involvement of genome architecture in nonrecurrent chromosome rearrangements, we analyzed the breakpoints of eight translocations and 18 unusual-sized deletions involving...
Velagaleti, Gopalrao V. N., Bien-Willner, Gabriel A., Northup, Jill K., Lockhart, Lillian H., Hawkins, Judy C., Jalal, Syed M., ...
Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the multiple mutations found within the sex-determining region Y–related...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture
Gherman, Adrian, Chen, Peter E, Teslovich, Tanya M, Stankiewicz, Pawel, Withers, Marjorie, Kashuk, Carl S, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...
Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., ...
The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal...