Evolution of genetic and genomic features unique to the human lineage

A draft sequence of the Neandertal genome

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318

Initial sequence of the chimpanzee genome and comparison with the human genome

The Chimpanzee Sequencing and Analysis Consortium (2005) · Nature · doi:10.1038/nature04072 · Cited by 2,459

Genetic history of an archaic hominin group from Denisova Cave in Siberia

Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature · doi:10.1038/nature09710 · Cited by 1,991

A high-coverage genome sequence from an archaic denisovan individual

Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967

Endurance running and the evolution of Homo

Bramble, D. M., & Lieberman, D. E. (2004) · Nature · doi:10.1038/nature03052 · Cited by 1,748

Missing heritability and strategies for finding the underlying causes of complex disease

Eichler, E. E., Flint, J., Gibson, G. C., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2809 · Cited by 1,728

The impact of retrotransposons on human genome evolution

Cordaux, R., & Batzer, M. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2640 · Cited by 1,692

Genome structural variation discovery and genotyping

Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630

Molecular evolution of FOXP2, a gene involved in speech and language

Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., & Pääbo, S. (2002) · Nature · doi:10.1038/nature01025 · Cited by 1,603

Repetitive DNA and next-generation sequencing: computational challenges and solutions

Treangen, T. J., & Salzberg, S. L. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3117 · Cited by 1,597

Hot L1s account for the bulk of retrotransposition in the human population

Brouha, B., Schustak, J., Badge, R. M., Lutz-Prigge, S., Farley, A. H., Moran, J. V., & Kazazian, H. H. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0831042100 · Cited by 1,073

An RNA gene expressed during cortical development evolved rapidly in humans

Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M.-A., Coppens, S., Pedersen, J. S., Katzman, S., King, B., Onodera, C., Siepel, A., et al. (2006) · Nature · doi:10.1038/nature05113 · Cited by 1,005

Genome architecture, rearrangements and genomic disorders

Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 944

L1 retrotransposition in human neural progenitor cells

Coufal, N. G., Garcia-Perez, J. L., Peng, G. E., Yeo, G. W., Mu, Y., Lovci, M. T., Morell, M., O’Shea, K. S., Moran, J. V., & Gage, F. H. (2009) · Nature · doi:10.1038/nature08248 · Cited by 814

Insights into hominid evolution from the gorilla genome sequence

Scally, A., Dutheil, J. Y., Hillier, L. W., Jordan, G. E., Goodhead, I., Herrero, J., Hobolth, A., Lappalainen, T., Mailund, T., Marquès‐Bonet, T., et al. (2012) · Nature · doi:10.1038/nature10842 · Cited by 776

Personalized copy number and segmental duplication maps using next-generation sequencing

Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics · doi:10.1038/ng.437 · Cited by 748

Gene conversion: mechanisms, evolution and human disease

Chen, J., Cooper, D. N., Chuzhanova, N. A., Férec, C., & Patrinos, G. P. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2193 · Cited by 689

The Origin of Man: A Chromosomal Pictorial Legacy

Yunis, J. J., & Prakash, O. (1982) · Science · doi:10.1126/science.7063861 · Cited by 672

Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios

Clark, A. G., Glanowski, S., Nielsen, R., Thomas, P. D., Kejariwal, A., Todd, M. A., Tanenbaum, D. M., Civello, D., Lu, F., Murphy, B., et al. (2003) · Science · doi:10.1126/science.1088821 · Cited by 667

Diversity of Human Copy Number Variation and Multicopy Genes

Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, et al. (2010) · Science · doi:10.1126/science.1197005 · Cited by 667

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625

A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice

Enard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., et al. (2009) · Cell · doi:10.1016/j.cell.2009.03.041 · Cited by 605

The bonobo genome compared with the chimpanzee and human genomes

Prüfer, K., Munch, K., Hellmann, I., Akagi, K., Miller, J. R., Walenz, B., Koren, S., Sutton, G., Kodira, C., Winer, R., et al. (2012) · Nature · doi:10.1038/nature11128 · Cited by 579

Human-specific loss of regulatory DNA and the evolution of human-specific traits

McLean, C. Y., Reno, P. L., Pollen, A. A., Bassan, A. I., Capellini, T. D., Guenther, C., Indjeian, V. B., Lim, X., Menke, D. B., Schaar, B. T., et al. (2011) · Nature · doi:10.1038/nature09774 · Cited by 535

A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

Grossman, S. R., Shylakhter, I., Karlsson, E. K., Byrne, E. H., Morales, S., Frieden, G., Hostetter, E., Angelino, E., Garber, M., Zuk, O., et al. (2010) · Science · doi:10.1126/science.1183863 · Cited by 512

Comparative studies of gene expression and the evolution of gene regulation

Romero, I. G., Ruvinsky, I., & Gilad, Y. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3229 · Cited by 488

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

Linardopoulou, E. V., Williams, E. M., Fan, Y., Friedman, C. L., Young, J. M., & Trask, B. J. (2005) · Nature · doi:10.1038/nature04029 · Cited by 459

Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation

Charrier, C., Joshi, K., Coutinho-Budd, J., Kim, J.-E., Lambert, N., de Marchena, J., Jin, W.-L., Vanderhaeghen, P., Ghosh, A., Sassa, T., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.034 · Cited by 454

When Less Is More: Gene Loss as an Engine of Evolutionary Change

Olson, M. V. (1999) · The American Journal of Human Genetics · doi:10.1086/302219 · Cited by 437

Accelerated Evolution of Nervous System Genes in the Origin of Homo sapiens

Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M. A., Wyckoff, G. J., Malcom, C. M., & Lahn, B. T. (2004) · Cell · doi:10.1016/j.cell.2004.11.040 · Cited by 429

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

Dennis, M. Y., Nuttle, X., Sudmant, P. H., Antonacci, F., Graves, T. A., Nefedov, M., Rosenfeld, J. A., Sajjadian, S., Malig, M., Kotkiewicz, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.033 · Cited by 407

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

Lai, C. S. L. (2003) · Brain · doi:10.1093/brain/awg247 · Cited by 399

Myosin gene mutation correlates with anatomical changes in the human lineage

Stedman, H. H., Kozyak, B. W., Nelson, A., Thesier, D. M., Su, L. T., Low, D. W., Bridges, C. R., Shrager, J. B., Minugh-Purvis, N., & Mitchell, M. A. (2004) · Nature · doi:10.1038/nature02358 · Cited by 398

Human-Specific Gain of Function in a Developmental Enhancer

Prabhakar, S., Visel, A., Akiyama, J. A., Shoukry, M. I., Lewis, K. D., Holt, A., Plajzer-Frick, I., Morrison, H., FitzPatrick, D. R., Afzal, V., et al. (2008) · Science · doi:10.1126/science.1159974 · Cited by 357

Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting.

Jauch, A., Wienberg, J., Stanyon, R., Arnold, N., Tofanelli, S., Ishida, T., & Cremer, T. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.18.8611 · Cited by 310

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer’s disease

Carrasquillo, M. M., Zou, F., Pankratz, V. S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, S. G., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., et al. (2009) · Nature Genetics · doi:10.1038/ng.305 · Cited by 296

Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels

Britten, R. J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.172510699 · Cited by 296

Recent de novo origin of human protein-coding genes

Knowles, D. G., & McLysaght, A. (2009) · Genome Research · doi:10.1101/gr.095026.109 · Cited by 291

Uniquely human evolution of sialic acid genetics and biology

Varki, A. P. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914634107 · Cited by 284

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

Singer, T., McConnell, M. J., Marchetto, M. C., Coufal, N. G., & Gage, F. H. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2010.04.001 · Cited by 280

Lineage-Specific Gene Duplication and Loss in Human and Great Ape Evolution

Fortna, A., Kim, Y., MacLaren, E. J., Marshall, K. E., Hahn, G., Meltesen, L., Brenton, M., Hink, R., Burgers, S., Hernandez‐Boussard, T., et al. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020207 · Cited by 276

Sex-specific and lineage-specific alternative splicing in primatesPreprint

Blekhman, R., Marioni, J. C., Zumbo, P., Stephens, M., & Gilad, Y. (2009) · Genome Research · doi:10.1101/gr.099226.109 · Cited by 270

Climate change and evolving human diversity in Europe during the last glacial

Gamble, C., Davies, W., Pettitt, P., & Richards, M. B. (2004) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2003.1396 · Cited by 255

A burst of segmental duplications in the genome of the African great ape ancestor

Marquès‐Bonet, T., Kidd, J. M., Ventura, M., Graves, T., Cheng, Z., Hillier, L., Jiang, Z., Baker, C. A., Malfavon-Borja, R., Fulton, L. A., et al. (2009) · Nature · doi:10.1038/nature07744 · Cited by 255

Accelerated Protein Evolution and Origins of Human-Specific Features: FOXP2 as an Example

Zhang, J., Webb, D., & Podlaha, O. (2002) · Genetics · doi:10.1093/genetics/162.4.1825 · Cited by 253

The evolution of human reproduction: A primatological perspective

Martin, R. D. (2007) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20734 · Cited by 252

Extension of cortical synaptic development distinguishes humans from chimpanzees and macaques

Liu, X., Somel, M., Tang, L., Yan, Z., Jiang, X., Guo, S., Yuan, Y., He, L., Oleksiak, A., Zhang, Y., et al. (2012) · Genome Research · doi:10.1101/gr.127324.111 · Cited by 251

Sequencing the chimpanzee genome: insights into human evolution and disease

Olson, M. V., & Varki, A. P. (2002) · Nature Reviews Genetics · doi:10.1038/nrg981 · Cited by 240

Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans

Evans, P. D., Anderson, J. R., Vallender, E. J., Gilbert, S. L., Malcom, C. M., Dorus, S., & Lahn, B. T. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh055 · Cited by 240

Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size

Evans, P. D. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh126 · Cited by 220

Duplication hotspots, rare genomic disorders, and common disease

Mefford, H. C., & Eichler, E. E. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.003 · Cited by 209

Siglecs in innate immunity

Crocker, P. R. (2005) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2005.03.003 · Cited by 206

Loss of Siglec expression on T lymphocytes during human evolution

Nguyen, D. H., Hurtado-Ziola, N., Gagneux, P., & Varki, A. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510484103 · Cited by 204

3,5‐Diiodothyronine binds to subunit Va of cytochrome‐c oxidase and abolishes the allosteric inhibition of respiration by ATP

Arnold, S., Goglia, F., & Kadenbach, B. (1998) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1998.2520325.x · Cited by 198

Alleviation of Neurotoxicity by Microglial Human Siglec-11

Wang, Y., & Neumann, H. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3940-09.2010 · Cited by 190

Human LineageSpecific Amplification, Selection, and Neuronal Expression of DUF1220 Domains

Popesco, M. C., MacLaren, E. J., Hopkins, J. A., Dumas, L., Cox, M., Meltesen, L., McGavran, L., Wyckoff, G. J., & Sikela, J. M. (2006) · Science · doi:10.1126/science.1127980 · Cited by 187

De Novo Origin of Human Protein-Coding Genes

Wu, D.-D., Irwin, D. M., & Zhang, Y.-P. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002379 · Cited by 183

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

Dumas, L., Kim, Y. H., Karimpour-Fard, A., Cox, M., Hopkins, J., Pollack, J. R., & Sikela, J. M. (2007) · Genome Research · doi:10.1101/gr.6557307 · Cited by 174

Human uniqueness: genome interactions with environment, behaviour and culture

Varki, A. P., Geschwind, D. H., & Eichler, E. E. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2428 · Cited by 172

Severe Preeclampsia-Related Changes in Gene Expression at the Maternal-Fetal Interface Include Sialic Acid-Binding Immunoglobulin-Like Lectin-6 and Pappalysin-2

Winn, V. D., Gormley, M. J., Paquet, A. C., Kjær-Sørensen, K., Kramer, A. W., Rumer, K. K., Haimov‐Kochman, R., Yeh, R., Overgaard, M. T., Varki, A. P., et al. (2008) · Endocrinology · doi:10.1210/en.2008-0990 · Cited by 168

Hotspots of Biased Nucleotide Substitutions in Human Genes

Berglund, J., Pollard, K. S., & Webster, M. T. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000026 · Cited by 157

Human aquaporin adipose (AQPap) gene

Kondo, H., Shimomura, I., Kishida, K., Kuriyama, H., Makino, Y., Nishizawa, H., Matsuda, M., Maeda, N., Nagaretani, H., Kihara, S., et al. (2002) · European Journal of Biochemistry · doi:10.1046/j.1432-1033.2002.02821.x · Cited by 155

A Novel Gene Family NBPF: Intricate Structure Generated by Gene Duplications During Primate Evolution

Vandepoele, K., Roy, N. V., Staes, K., Speleman, F., & Roy, F. M. V. (2005) · Molecular Biology and Evolution · doi:10.1093/molbev/msi222 · Cited by 151

A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions

Li, C.-Y., Zhang, Y., Wang, Z., Zhang, Y., Cao, C., Zhang, P.-W., Lu, S.-J., Li, X.-M., Yu, Q., Zheng, X., et al. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000734 · Cited by 130

The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function

Araud, T., Graw, S. L., Berger, R., Lee, M., Neveu, E., Bertrand, D., & Leonard, S. S. (2011) · Biochemical Pharmacology · doi:10.1016/j.bcp.2011.06.018 · Cited by 128

Phosphorylation of p85 βPIX, a Rac/Cdc42-specific Guanine Nucleotide Exchange Factor, via the Ras/ERK/PAK2 Pathway Is Required for Basic Fibroblast Growth Factor-induced Neurite Outgrowth

Shin, E., Shin, K., Lee, C., Woo, K.-N., Quan, S., Soung, N., Kim, Y. G., Ik, C., Kim, S., Park, D., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m203754200 · Cited by 127

Genomic Copy Number Variation in Disorders of Cognitive Development

Morrow, E. M. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.08.009 · Cited by 124

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

Dumas, L., O’Bleness, M., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J., Jackson, J. B., Sikela, M., Raznahan, A., Giedd, J. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.016 · Cited by 123

Human-specific expression of Siglec-6 in the placenta

Brinkman-Van der Linden, E. C. M., Hurtado-Ziola, N., Hayakawa, T., Wiggleton, L., Benirschke, K., Varki, A., & Varki, N. (2007) · Glycobiology · doi:10.1093/glycob/cwm065 · Cited by 123

Metabolic changes in schizophrenia and human brain evolution

Khaitovich, P., Lockstone, H. E., Wayland, M. T., Tsang, T. M., Jayatilaka, S. D., Guo, A. J., Zhou, J., Somel, M., Harris, L. W., Holmes, E. C., et al. (2008) · Genome biology · doi:10.1186/gb-2008-9-8-r124 · Cited by 115

Increased Cortical Expression of Two Synaptogenic Thrombospondins in Human Brain Evolution

Cáceres, M., Suwyn, C. R., Maddox, M., Thomas, J. W., & Preuss, T. M. (2006) · Cerebral Cortex · doi:10.1093/cercor/bhl140 · Cited by 114

Biomedical Differences Between Human and Nonhuman Hominids: Potential Roles for Uniquely Human Aspects of Sialic Acid Biology

Varki, N. M., Strobert, E. A., Dick, E. J., Benirschke, K., & Varki, A. P. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130315 · Cited by 114

Sex-dependent association of common variants of microcephaly genes with brain structure

Rimol, L. M., Agartz, I., Djurovic, S., Brown, A. A., Roddey, J. C., Kähler, A. K., Mattingsdal, M., Athanasiu, L., Joyner, A. H., Schork, N. J., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908454107 · Cited by 112

An Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing

Plunkett, J., Doniger, S. W., Orabona, G. M., Morgan, T., Haataja, R., Hallman, M., Puttonen, H., Menon, R., Kuczynski, E., Norwitz, E. R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001365 · Cited by 110

ORIGINAL ARTICLE: Heart disease is common in humans and chimpanzees, but is caused by different pathological processes

Varki, N. M., Anderson, D., Herndon, J. G., Pham, T. D., Gregg, C. J., Cheriyan, M., Murphy, J., Strobert, E. A., Fritz, J., Else, J. G., et al. (2009) · Evolutionary Applications · doi:10.1111/j.1752-4571.2008.00064.x · Cited by 109

COMPARATIVE PRIMATE GENOMICS

Enard, W., & Pääbo, S. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180040 · Cited by 109

Direct visualization of single copy genes on banded metaphase chromosomes by nonisotopicin situhybridization

Bhatt, B., Burns, J., Flannery, D. B., & McGee, J. O. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.9.3951 · Cited by 106

Mutations and Polymorphisms of the FSH Receptor (FSHR) Gene

Lussiana, C., Guani, B., Mari, C., Restagno, G., Massobrio, M., & Revelli, A. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e31818957eb · Cited by 102

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

Mekel-Bobrov, N., Danielle Posthuma, B., Gilbert, S. L., Lind, P. A., Gosso, M. F., Michelle Luciano, A., Harris, S. E., Bates, T. C., Polderman, T. J. C., Whalley, L. J., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl487 · Cited by 87

Handedness, language lateralisation and anatomical asymmetry: relevance of protocadherin XY to hominid speciation and the aetiology of psychosis

Crow, T. J. (2002) · The British Journal of Psychiatry · doi:10.1192/bjp.181.4.295 · Cited by 85

Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ

Evans, P. D., Vallender, E. J., & Lahn, B. T. (2006) · Gene · doi:10.1016/j.gene.2006.02.019 · Cited by 84

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

Saus, E., Brunet‐Vega, A., Armengol, L., Alonso, P., Crespo, J. M., Fernández‐Aranda, F., Guitart, M., Martín‐Santos, R., Menchón, J. M., Navinés, R., et al. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2010.03.007 · Cited by 84

Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies

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The SPANX gene family of cancer/testis-specific antigens: Rapid evolution and amplification in African great apes and hominids

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Fixation of the Human-Specific CMP-N-Acetylneuraminic Acid Hydroxylase Pseudogene and Implications of Haplotype Diversity for Human Evolution

Hayakawa, T., Aki, I., Varki, A. P., Satta, Y., & Takahata, N. (2005) · Genetics · doi:10.1534/genetics.105.046995 · Cited by 83

The DISC1 Pathway Modulates Expression of Neurodevelopmental, Synaptogenic and Sensory Perception Genes

Hennah, W., & Porteous, D. J. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004906 · Cited by 80

Evolutionary History and Genome Organization of DUF1220 Protein Domains

O’Bleness, M., Dickens, C. M., Dumas, L., Kehrer‐Sawatzki, H., Wyckoff, G. J., & Sikela, J. M. (2012) · G3 Genes Genomes Genetics · doi:10.1534/g3.112.003061 · Cited by 76

Structural and Functional Characterization of Human Peripheral Nervous System Myelin Protein P2

Majava, V., Polverini, E., Mazzini, A., Nanekar, R. T., Knoll, W., Peters, J., Natali, F., Baumgärtel, P., Kursula, I., & Kursula, P. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010300 · Cited by 74

Specific inactivation of two immunomodulatory SIGLEC genes during human evolution

Wang, X., Mitra, N., Secundino, I., Banda, K., Cruz, P., Padler-Karavani, V., Verhagen, A., Reid, C., Lari, M., Rizzi, E., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119459109 · Cited by 72

The Jewels of Our Genome: The Search for the Genomic Changes Underlying the Evolutionarily Unique Capacities of the Human Brain

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Genetic variation in PCDH11X is associated with susceptibility to late onset alzheimer's disease

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