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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
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- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1270, doi. 10.1111/epi.12201
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- Article
Higher Levels of Neanderthal Ancestry in East Asians than in Europeans.
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- Genetics, 2013, v. 194, n. 1, p. 199, doi. 10.1534/genetics.112.148213
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- Article
Inferring Human Population Sizes, Divergence Times and Rates of Gene Flow From Mitochondrial, X and Y Chromosome Resequencing Data.
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- Genetics, 2007, v. 177, n. 4, p. 2195, doi. 10.1534/genetics.107.077495
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- Article
The Extent of Linkage Disequilibrium Caused by Selection on G6PD in Humans.
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- Genetics, 2005, v. 171, n. 3, p. 1219, doi. 10.1534/genetics.105.048140
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- Article
Deep Haplotype Divergence and Long-Range Linkage Disequilibrium at Xp21.1 Provide Evidence That Humans Descend From a Structured Ancestral Population.
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- Genetics, 2005, v. 170, n. 4, p. 1849, doi. 10.1534/genetics.105.041095
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- Article
Heterogeneous Patterns of Variation Among Multiple Human X-Linked Loci: The Possible Role of Diversity-Reducing Selection in Non-Africans.
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- Genetics, 2004, v. 167, n. 4, p. 1841, doi. 10.1534/genetics.103.025361
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- Article
Nucleotide Variation at Msn and Als2, Two Genes Flanking the Centromere of the X Chromosome in Humans.
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- Genetics, 2004, v. 167, n. 1, p. 423, doi. 10.1534/genetics.167.1.423
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- Article
Human Population Structure and Its Effects on Sampling Y Chromosome Sequence Variation.
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- Genetics, 2003, v. 164, n. 4, p. 1495, doi. 10.1093/genetics/164.4.1495
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- Article
Nucleotide variability at G6pd and the signature of malarial selection in humans.
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- Genetics, 2002, v. 162, n. 4, p. 1849, doi. 10.1093/genetics/162.4.1849
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- Article
A Novel Mouse Chromosome 17 Hybrid Sterility Locus: Implications for the Origin of t Haplotypes.
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- Genetics, 1991, v. 129, n. 1, p. 237, doi. 10.1093/genetics/129.1.237
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- Article
Isolation, contact and social behavior shaped genetic diversity in West Timor.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 494, doi. 10.1038/jhg.2014.62
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- Article
The Indonesian archipelago: an ancient genetic highway linking Asia and the Pacific.
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- Journal of Human Genetics, 2013, v. 58, n. 3, p. 165, doi. 10.1038/jhg.2012.154
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- Article
The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes.
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- Nature Genetics, 2010, v. 42, n. 10, p. 830, doi. 10.1038/ng.651
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- Article
Global patterns of human mitochondrial DNA and Y-chromosome structure are not influenced by higher migration rates of females versus males.
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- Nature Genetics, 2004, v. 36, n. 10, p. 1122, doi. 10.1038/ng1428
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- Article
The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
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- Journal of Registry Management, 2023, v. 50, n. 1, p. 4
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- Publication type:
- Article
Autosomal Resequence Data Reveal Late Stone Age Signals of Population Expansion in Sub-Saharan African Foraging and Farming Populations.
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- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006366
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- Article
The role of the Y chromosome in human evolutionary studies.
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- Evolutionary Anthropology, 1996, v. 5, n. 4, p. 116, doi. 10.1002/(SICI)1520-6505(1996)5:4<116::AID-EVAN2>3.0.CO;2-E
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- Article
The impact of whole-genome sequencing on the reconstruction of human population history.
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- Nature Reviews Genetics, 2014, v. 15, n. 3, p. 149, doi. 10.1038/nrg3625
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- Article
Reconstructing human origins in the genomic era.
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- Nature Reviews Genetics, 2006, v. 7, n. 9, p. 669, doi. 10.1038/nrg1941
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- Article
Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood.
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- Human Genetics, 2009, v. 126, n. 5, p. 707, doi. 10.1007/s00439-009-0727-5
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- Article
Response.
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- 2009
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- Publication type:
- Letter
Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations.
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- Human Genetics, 2004, v. 114, n. 4, p. 354, doi. 10.1007/s00439-003-1073-7
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- Publication type:
- Article
Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans.
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- Human Genetics, 2003, v. 114, n. 1, p. 27, doi. 10.1007/s00439-003-1019-0
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- Publication type:
- Article
Extensive genome-wide autozygosity in the population isolates of Daghestan.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1405, doi. 10.1038/ejhg.2014.299
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- Article
Reply to 'The 'extremely ancient' chromosome that isn't' by Elhaik et al.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 564, doi. 10.1038/ejhg.2014.148
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- Article
Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 369, doi. 10.1038/ejhg.2014.106
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- Publication type:
- Article
The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 94, doi. 10.1038/ejhg.2013.78
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- Article
Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes.
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- European Journal of Human Genetics, 2005, v. 13, n. 7, p. 867, doi. 10.1038/sj.ejhg.5201408
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- Article
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 355, doi. 10.1038/sj.ejhg.5201156
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- Article
Substructured Population Growth in the Ashkenazi Jews Inferred with Approximate Bayesian Computation.
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- Molecular Biology & Evolution, 2019, v. 36, n. 6, p. 1162, doi. 10.1093/molbev/msz047
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- Article
Genomic Evidence of Local Adaptation to Climate and Diet in Indigenous Siberians.
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- Molecular Biology & Evolution, 2019, v. 36, n. 2, p. 315, doi. 10.1093/molbev/msy211
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- Article
The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.
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- Molecular Biology & Evolution, 2018, v. 35, n. 9, p. 2284, doi. 10.1093/molbev/msy145
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- Publication type:
- Article
Exome Sequencing Provides Evidence of Polygenic Adaptation to a Fat-Rich Animal Diet in Indigenous Siberian Populations.
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- Molecular Biology & Evolution, 2017, v. 34, n. 11, p. 2913, doi. 10.1093/molbev/msx226
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- Article
Complex Patterns of Admixture across the Indonesian Archipelago.
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- Molecular Biology & Evolution, 2017, v. 34, n. 10, p. 2439, doi. 10.1093/molbev/msx196
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- Article
The Time Scale of Recombination Rate Evolution in Great Apes.
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- Molecular Biology & Evolution, 2016, v. 33, n. 4, p. 928, doi. 10.1093/molbev/msv331
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- Article
Inference of Gorilla Demographic and Selective History from Whole-Genome Sequence Data.
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- Molecular Biology & Evolution, 2015, v. 32, n. 3, p. 600, doi. 10.1093/molbev/msu394
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- Article
Evidence for Increased Levels of Positive and Negative Selection on the X Chromosome versus Autosomes in Humans.
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- Molecular Biology & Evolution, 2014, v. 31, n. 9, p. 2267, doi. 10.1093/molbev/msu166
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- Article
Neandertal Origin of Genetic Variation at the Cluster of OAS Immunity Genes.
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- Molecular Biology & Evolution, 2013, v. 30, n. 4, p. 798, doi. 10.1093/molbev/mst004
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- Publication type:
- Article
Global Genetic Variation at OAS1 Provides Evidence of Archaic Admixture in Melanesian Populations.
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- Molecular Biology & Evolution, 2012, v. 29, n. 6, p. 1513, doi. 10.1093/molbev/msr301
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- Publication type:
- Article
An Early Divergence of KhoeSan Ancestors from Those of Other Modern Humans Is Supported by an ABC-Based Analysis of Autosomal Resequencing Data.
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- Molecular Biology & Evolution, 2012, v. 29, n. 2, p. 617, doi. 10.1093/molbev/msr212
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- Publication type:
- Article
The genome-wide structure of the Jewish people.
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- Nature, 2010, v. 466, n. 7303, p. 238, doi. 10.1038/nature09103
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- Article
Variable patterns of mutation density among Na<sub>V</sub>1.1, Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 point to channel-specific functional differences associated with childhood epilepsy.
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- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0238121
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- Article
Siberian genetic diversity reveals complex origins of the Samoyedic‐speaking populations.
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- American Journal of Human Biology, 2018, v. 30, n. 6, p. 1, doi. 10.1002/ajhb.23194
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- Article
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A‐related epilepsy.
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- Epilepsia (Series 4), 2023, v. 64, n. 12, p. 3365, doi. 10.1111/epi.17747
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- Article
Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
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- Epilepsia (Series 4), 2022, v. 63, n. 8, p. 1970, doi. 10.1111/epi.17296
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- Article
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort.
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- Epilepsia (Series 4), 2019, v. 60, n. 8, p. 1711, doi. 10.1111/epi.16288
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- Article
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
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- Epilepsia (Series 4), 2017, v. 58, n. 2, p. 282, doi. 10.1111/epi.13639
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- Article
SCN8A encephalopathy: Research progress and prospects.
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- Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1027, doi. 10.1111/epi.13422
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- Publication type:
- Article
Machine-Learning Approaches for Classifying Haplogroup from Y Chromosome STR Data.
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- PLoS Computational Biology, 2008, v. 4, n. 6, p. 1, doi. 10.1371/journal.pcbi.1000093
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- Article
Regulatory and Structural Genes for Lysozymes of Mice.
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- Genetics, 1987, v. 115, n. 3, p. 521
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- Publication type:
- Article