The PAH gene, phenylketonuria, and a paradigm shift, Hum Mutat, vol.28, pp.831-876, 2007. ,
The complete European guidelines on phenylketonuria: diagnosis and treatment, Orphanet J Rare Dis, vol.12, p.162, 2017. ,
Population stratification in genetic association studies, Curr Protoc Hum Genet, vol.95, pp.22-23, 2017. ,
Tracing the peopling of the world through genomics, Nature, vol.541, pp.302-312, 2017. ,
A genetic atlas of human admixture history, Science, vol.343, pp.747-51, 2014. ,
Settling the score: variant prioritization and Mendelian disease, Nat Rev Genet, vol.18, pp.599-612, 2017. ,
Fine-scale human genetic structure in Western France, Eur J Hum Genet, vol.23, pp.831-837, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02113285
The impact of a fine-scale population stratification on rare variant association test results, PLoS ONE, vol.13, p.207677, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01986061
Hyperphenylalaninemia: phenylalanine hydroxylase deficiency, pp.1667-724, 2002. ,
A role for overdominant selection in phenylketonuria? Evidence from molecular data, Hum Mutat, vol.21, pp.394-401, 2003. ,
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations, Am J Hum Genet, vol.55, pp.321-327, 1994. ,
Phenylalanine hydroxylase gene mutations in the United States: report from the maternal PKU collaborative study, Am J Hum Genet, vol.59, pp.84-94, 1996. ,
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype, Am J Hum Genet, vol.63, pp.71-80, 1998. ,
Influence of PAH genotype on sapropterin response in PKU: results of a single-center cohort study, JIMD Rep, vol.13, pp.101-110, 2014. ,
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness, Orphanet J Rare Dis, vol.10, p.158, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01255861
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China, BMC Med Genet, vol.18, p.108, 2017. ,
The spectrum of PAH mutations and increase of milder forms of phenylketonuria in Sweden during 1965-2014, JIMD Rep, vol.34, pp.19-26, 2017. ,
Characterization of phenyalanine hydroxylase gene mutations in chilean PKU patients, JIMD Rep, vol.42, pp.71-78, 2018. ,
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population, J Inherit Metab Dis, vol.41, pp.1159-67, 2018. ,
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland, China. Sci Rep, vol.8, p.11251, 2018. ,
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion, Nat Genet, vol.45, pp.197-201, 2013. ,
Long-range LD can confound genome scans in admixed populations, Am J Hum Genet, vol.83, pp.132-137, 2008. ,
Quality control for genome-wide association studies, Methods Mol Biol, vol.628, pp.341-72, 2010. ,
A global reference for human genetic variation, Nature, vol.526, pp.68-74, 2015. ,
The genetical structure of populations, Ann Eugen, vol.15, pp.323-54, 1951. ,
Principles of population genetics, 1997. ,
Estimating F-Statistics for the analysis of population structure, Evolution (N Y), vol.38, pp.1358-70, 1984. ,
Properties of Weir and Cockerham's Fst estimators and associated bootstrap confidence intervals, Theor Popul Biol, vol.79, pp.39-52, 2011. ,
Structure of linkage disequilibrium and phenotypic associations in the maize genome, Proc Natl Acad Sci U S A, vol.98, pp.11479-84, 2001. ,
The interaction of selection and linkage. I. General considerations; heterotic models, Genetics, vol.49, pp.49-67, 1964. ,
The structure of haplotype blocks in the human genome, Science, vol.296, pp.2225-2234, 2002. ,
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data, Nucleic Acids Res, vol.47, pp.623-654, 2019. ,
Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees, Mol Biol Evol, vol.10, pp.512-538, 1993. ,
Estimating divergence times in large molecular phylogenies, Proc Natl Acad Sci U S A, vol.109, pp.19333-19341, 2012. ,
MEGA X: molecular evolutionary genetics analysis across computing platforms, Mol Biol Evol, vol.35, pp.1547-1556, 2018. ,
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed program, p.563866, 2019. ,
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes, p.531210, 2019. ,
Genetic diseases conferring resistance to infectious diseases, Genes Dis, vol.2, pp.247-54, 2015. ,
Natural selection and infectious disease in human populations, Nat Rev Genet, vol.15, pp.379-93, 2014. ,
Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage, Ann Hum Genet, vol.38, pp.461-470, 1975. ,
Anthropological significance of phenylketonuria and the importance of heterozygote advantage, Ir Med J, vol.69, pp.405-415, 1976. ,
Heterozygote advantage for the phenylketonuria allele, J Med Genet, vol.14, pp.20-24, 1977. ,
Heterozygote advantage for the phenylketonuria allele, J Med Genet, vol.15, pp.246-254, 1978. ,
Heterozygote advantage for the phenylketonuria allele, J Med Genet, vol.15, pp.317-326, 1978. ,
The heterozygote advantage in phenylketonuria, Am J Hum Genet, vol.38, pp.773-778, 1986. ,
A model-based approach for identifying signatures of ancient balancing selection in genetic data, PLoS Genet, vol.10, p.1004561, 2014. ,
Revisiting an old riddle: what determines genetic diversity levels within species, PLoS Biol, vol.10, p.1001388, 2012. ,
Genetics of phenylketonuria. Heterozygosity for phenylketonuria, Nature, vol.213, pp.882-885, 1967. ,
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia, FEBS Lett, vol.577, pp.507-518, 2004. ,
Tetrahydrobiopterin supplementation improves phenylalanine metabolism in a murine model of severe malaria, ACS Infect Dis, vol.2, pp.827-865, 2016. ,
Impaired systemic tetrahydrobiopterin bioavailability and increased dihydrobiopterin in adult falciparum malaria: association with disease severity, impaired microvascular function and increased endothelial activation, PLoS Pathog, vol.11, p.1004667, 2015. ,
Malaria mapping: understanding the global endemicity of falciparum and vivax malaria, BMC Med, vol.13, p.140, 2015. ,
Two routes to functional adaptation: Tibetan and Andean high-altitude natives, Proc Natl Acad Sci U S A, vol.104, issue.1, pp.8655-60, 2007. ,
Nitric oxide in adaptation to altitude, Free Radic Biol Med, vol.52, pp.1123-1157, 2012. ,
Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc, Proc Natl Acad Sci U S A, vol.113, pp.7485-90, 2016. ,
Natural selection on genes related to cardiovascular health in high-altitude adapted andeans, Am J Hum Genet, vol.101, pp.752-67, 2017. ,
Population history and altitude-related adaptation in the Sherpa, Front Physiol, vol.10, p.1116, 2019. ,
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations, Genet Med, vol.18, pp.1029-1065, 2016. ,
Balancing selection and its effects on sequences in nearby genome regions, PLoS Genet, vol.2, p.64, 2006. ,
SCO-spondin derived peptide NX210 induces neuroprotection in vitro and promotes fiber regrowth and functional recovery after spinal cord injury, PLoS ONE, vol.9, p.93179, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-02068248
Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function, J Inherit Metab Dis, vol.9, issue.2, pp.169-77, 1986. ,
Animal models of brain dysfunction in phenylketonuria, Mol Genet Metab, vol.99, issue.1, pp.100-105, 2010. ,
Relationship between myelin production and dopamine synthesis in the PKU mouse brain, J Neurochem, vol.86, pp.615-641, 2003. ,
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients, Nat Commun, vol.9, p.67, 2018. ,