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

American journal of human genetics, 2012-09, Vol.91 (3), p.444-454

2012

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Evolution of genetic and genomic features unique to the human lineage

Nature reviews. Genetics, 2012-12, Vol.13 (12), p.853-866

2012

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

Human genetics, 2019-07, Vol.138 (7), p.715-721

2019

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DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism

PLoS genetics, 2014-03, Vol.10 (3), p.e1004241

2014

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High resolution measurement of DUF1220 domain copy number from whole genome sequence data

BMC genomics, 2017-08, Vol.18 (1), p.614-614, Article 614

2017

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

Genome Research, 2007-09, Vol.17 (9), p.1266-1277

2007

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Human Lineage-Specific Amplification, Selection, and Neuronal Expression of DUF1220 Domains

Science (American Association for the Advancement of Science), 2006-09, Vol.313 (5791), p.1304-1307

2006

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Lineage-specific gene duplication and loss in human and great ape evolution

PLoS biology, 2004-07, Vol.2 (7), p.E207-E207

2004

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

BMC genomics, 2014-05, Vol.15 (1), p.387-387, Article 387

2014

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The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain

PLoS genetics, 2006-05, Vol.2 (5), p.e80-e80

Sikela, James M

2006

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Ethanol-Responsive Brain Region Expression Networks: Implications for Behavioral Responses to Acute Ethanol in DBA/2J versus C57BL/6J Mice

The Journal of neuroscience, 2005-03, Vol.25 (9), p.2255-2266

2005

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Changing the name of the NBPF/DUF1220 domain to the Olduvai domain

F1000 research, 2017-01, Vol.6, p.2185-2185

2017

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Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study

PloS one, 2013-09, Vol.8 (9), p.e74940-e74940

2013

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A proposal to change the name of the NBPF/DUF1220 domain to the Olduvai domain [version 1; peer review: 2 approved, 1 approved with reservations]

F1000 research, 2017, Vol.6, p.2185

2017

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

The American journal of psychiatry, 2019-08, Vol.176 (8), p.643-650

2019

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Finding and mapping new genes faster than ever: revisited

Genetics (Austin), 2014-08, Vol.197 (4), p.1063-1067

Sikela, James M

2014

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Proteolytic activation of human-specific Olduvai domains by the furin protease

International journal of biological macromolecules, 2023-04, Vol.234, p.123041-123041, Article 123041

2023

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

Genetics (Austin), 2020-01, Vol.214 (1), p.179-191

2020

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The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion

Frontiers in human neuroscience, 2014-06, Vol.8, p.427-427

2014

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Human evolutionary genomics and the search for the genes that made us human

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2015, p.479

Sikela, James M

2015

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DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores

Human genetics, 2015-01, Vol.134 (1), p.67-75

2015

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A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation

Human genomics, 2010-08, Vol.4 (6), p.421-427

2010

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Solution NMR backbone assignments of disordered Olduvai protein domain CON1 employing Hα-detected experiments

Biomolecular NMR assignments, 2022-04, Vol.16 (1), p.113-119

2022

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Quantitative trait loci affecting initial sensitivity and acute functional tolerance to ethanol-induced ataxia and brain cAMP signaling in BXD recombinant inbred mice

The Journal of pharmacology and experimental therapeutics, 2002-09, Vol.302 (3), p.1238-1245

2002

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

Nature reviews. Genetics, 2010-09, Vol.11 (9), p.658-662

2010

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

Evolution of genetic and genomic features unique to the human lineage

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

DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism

High resolution measurement of DUF1220 domain copy number from whole genome sequence data

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

Human Lineage-Specific Amplification, Selection, and Neuronal Expression of DUF1220 Domains

Lineage-specific gene duplication and loss in human and great ape evolution

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

The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain

Ethanol-Responsive Brain Region Expression Networks: Implications for Behavioral Responses to Acute Ethanol in DBA/2J versus C57BL/6J Mice

Changing the name of the NBPF/DUF1220 domain to the Olduvai domain

Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study

A proposal to change the name of the NBPF/DUF1220 domain to the Olduvai domain [version 1; peer review: 2 approved, 1 approved with reservations]

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

Finding and mapping new genes faster than ever: revisited

Proteolytic activation of human-specific Olduvai domains by the furin protease

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

The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion

Human evolutionary genomics and the search for the genes that made us human

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores

A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation

Solution NMR backbone assignments of disordered Olduvai protein domain CON1 employing Hα-detected experiments

Quantitative trait loci affecting initial sensitivity and acute functional tolerance to ethanol-induced ataxia and brain cAMP signaling in BXD recombinant inbred mice

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

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