James M. Sikela - Publications, H-index & Citations

James M. Sikela

University of Colorado School of Medicine

46H指数

133论文数

9.5K被引数

收录论文 28

发表时间

Olduvai domains: humanity’s lucky brake 奥杜韦域：人类幸运的刹车

Trends in Genetics

IF16.3

2026-07-18

PREAI

James M. Sikela

Proteolytic activation of human-specific Olduvai domains by the furin protease 弗林蛋白酶对人类特异性Olduvai结构域的蛋白水解激活

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

IF8.5

2023-04-01

OAAI

Pacheco, Ashley; Issaian, Aaron; Davis, Jonathan; Anderson, Nathan; Nemkov, Travis; Paukovich, Natasia; Henen, Morkos A.; Vögeli, Beat; Sikela, James M.; Hansen, Kirk

The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome

GENETICS

IF5.1

2020-01-01

OAAI

Heft, Ilea E.; Mostovoy, Yulia; Levy-Sakin, Michal; Ma, Walfred; Stevens, Aaron J.; Pastor, Steven; McCaffrey, Jennifer; Boffelli, Dario; Martin, David I.; Xiao, Ming; Kennedy, Martin A.; Kwok, Pui-Yan; Sikela, James M.

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism

AMERICAN JOURNAL OF PSYCHIATRY

IF14.7

2019-08-01

OAAI

Davis, Jonathan M.; Heft, Ilea; Scherer, Stephen W.; Sikela, James M.

Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution

HUMAN GENETICS

IF3.6

2019-05-13

OAAI

Fiddes, Ian T.; Pollen, Alex A.; Davis, Jonathan M.; Sikela, James M.

Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?

HUMAN GENETICS

IF3.6

2018-01-15

OAAI

Sikela, J. M.; Quick, V. B. Searles

High resolution measurement of DUF1220 domain copy number from whole genome sequence data 全基因组序列数据中DUF1220结构域拷贝数的高分辨率测量

BMC GENOMICS

IF3.7

2017-08-14

OAAI

Astling, David P.; Heft, Ilea E.; Jones, Kenneth L.; Sikela, James M.

DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases DUF1220拷贝数与精神分裂症风险和严重程度相关: 理解自闭症和精神分裂症相关疾病的意义

TRANSLATIONAL PSYCHIATRY

IF6.2

2015-12-15

OAAI

Quick, V. B. Searles; Davis, J. M.; Olincy, A.; Sikela, J. M.

Replicated linear association between DUF1220 copy number and severity of social impairment in autism

HUMAN GENETICS

IF3.6

2015-03-11

OAAI

Davis, J. M.; Quick, V. B. Searles; Sikela, J. M.

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores DUF1220拷贝数与通过总智商和数学能力得分衡量的认知功能增加线性相关

HUMAN GENETICS

IF3.6

2014-10-07

OAAI

Davis, Jonathon M.; Searles, Veronica B.; Anderson, Nathan; Keeney, Jonathon; Raznahan, Armin; Horwood, L. John; Fergusson, David M.; Kennedy, Martin A.; Giedd, Jay; Sikela, James M.

Finding and Mapping New Genes Faster than Ever: Revisited

GENETICS

IF5.1

2014-08-01

OAAI

Sikela, James M.

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

BMC GENOMICS

IF3.7

2014-05-20

OAAI

O'Bleness, Majesta; Searles, Veronica B.; Dickens, C. Michael; Astling, David; Albracht, Derek; Mak, Angel C. Y.; Lai, Yvonne Y. Y.; Lin, Chin; Chu, Catherine; Graves, Tina; Kwok, Pui-Yan; Wilson, Richard K.; Sikela, James M.

DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism

PLOS GENETICS

IF3.7

2014-03-20

OAAI

Davis, Jonathan M.; Searles, Veronica B.; Anderson, Nathan; Keeney, Jonathon; Dumas, Laura; Sikela, James M.

Evolution of genetic and genomic features unique to the human lineage

NATURE REVIEWS GENETICS

IF52

2012-11-16

128

OAAI

O'Bleness, Majesta; Searles, Veronica B.; Varki, Ajit; Gagneux, Pascal; Sikela, James M.

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2012-09-01

109

OAAI

Dumas, Laura J.; O'Bleness, Majesta S.; Davis, Jonathan M.; Dickens, C. Michael; Anderson, Nathan; Keeney, J. G.; Jackson, Jay; Sikela, Megan; Raznahan, Armin; Giedd, Jay; Rapoport, Judith; Nagamani, Sandesh S. C.; Erez, Ayelet; Brunetti-Pierri, Nicola; Sugalski, Rachel; Lupski, James R.; Fingerlin, Tasha; Cheung, Sau Wai; Sikela, James M.

SCIENCE AND SOCIETY The ethics of using transgenic non-human primates to study what makes us human

NATURE REVIEWS GENETICS

IF52

2010-09-01

OAAI

Coors, Marilyn E.; Glover, Jacqueline J.; Juengst, Eric T.; Sikela, James M.

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

HUMAN MOLECULAR GENETICS

IF3.2

2007-08-03

OAAI

Babcock, Melanie; Yatsenko, Svetlana; Hopkins, Janet; Brenton, Matthew; Cao, Qing; de Jong, Pieter; Stankiewicz, Pawel; Lupski, James R.; Sikela, James M.; Morrow, Bernice E.

Gene copy number variation spanning 60 million years of human and primate evolution

GENOME RESEARCH

IF5.5

2007-07-31

163

OAAI

Dumas, Laura; Kim, Young H.; Karimpour-Fard, Anis; Cox, Michael; Hopkins, Janet; Pollack, Jonathan R.; Sikela, James M.

Human alcoholism studies of genes identified through mouse quantitative trait locus analysis

ADDICTION BIOLOGY

IF2.6

2006-06-09

PREAI