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Copy-number variation in control population cohortsPINTO, Dalila; MARSHALL, Christian; FEUK, Lars et al.Human molecular genetics (Print). 2007, Vol 16, issn 0964-6906, R168-R173, NS2Article

Frequent appearance of novel protein-coding sequences by frameshift translationOKAMURA, Kohji; FEUK, Lars; MARQUES-BONET, Tomas et al.Genomics (San Diego, Calif.). 2006, Vol 88, Num 6, pp 690-697, issn 0888-7543, 8 p.Article

Intractable epilepsy of infancy due to homozygous mutation in the EFHC 1 geneBERGER, Itai; DOR, Talya; HALVARDSON, Jonatan et al.Epilepsia (Copenhagen). 2012, Vol 53, Num 8, pp 1436-1440, issn 0013-9580, 5 p.Article

Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's diseaseFEUK, Lars; MCCARTHY, Shane; ANDERSSON, Biörn et al.American journal of medical genetics. 2005, Vol 136B, Num 1, pp 69-71, issn 0148-7299, 3 p.Article

Origins and functional impact of copy number variation in the human genomeCONRAD, Donald F; PINTO, Dalila; FITZGERALD, Tomas et al.Nature (London). 2010, Vol 464, Num 7289, pp 704-712, issn 0028-0836, 9 p.Article

Genome assembly comparison identifies structural variants in the human genomeKHAJA, Razi; JUNJUN ZHANG; ABURATANI, Hiroyuki et al.Nature genetics. 2006, Vol 38, Num 12, pp 1413-1418, issn 1061-4036, 6 p.Article

Genome-wide Association Study of Susceptibility Loci for Cervical CancerDAN CHEN; JUKO-PECIREP, Ivana; GYLLENSTEN, Ulf et al.Journal of the National Cancer Institute. 2013, Vol 105, Num 9, pp 624-633, issn 0027-8874, 10 p.Article

Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty AcidsAMEUR, Adam; ENROTH, Stefan; MEITINGER, Thomas et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 809-820, issn 0002-9297, 12 p.Article

Towards compendia of negative genetic association studies : an example for Alzheimer diseaseBLOMQVIST, Mia E.-L; REYNOLDS, Chandra; KATZOV, Hagit et al.Human genetics. 2006, Vol 119, Num 1-2, pp 29-37, issn 0340-6717, 9 p.Article

Elevated amyloid β protein (Aβ42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator geneERTEKIN-TANER, Nilüfer; RONALD, James; KELLY, Jason et al.Human molecular genetics (Print). 2005, Vol 14, Num 3, pp 447-460, issn 0964-6906, 14 p.Article

Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease : finding of a positive association for a polymorphism in the TNFRSF6 geneFEUK, Lars; PRINCE, Jonathan A; BREEN, Gerome et al.Human genetics. 2000, Vol 107, Num 4, pp 391-396, issn 0340-6717Article

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesMILLER, David T; ADAM, Margaret P; FAUCETT, W. Andrew et al.American journal of human genetics. 2010, Vol 86, Num 5, pp 749-764, issn 0002-9297, 16 p.Article

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaFEUK, Lars; KALERVO, Aino; RIVLIN, Joseph et al.American journal of human genetics. 2006, Vol 79, Num 5, pp 965-972, issn 0002-9297, 8 p.Article

Variants of CYP46A1 may interact with age and APOE to influence CSF Aβ42 levels in Alzheimer's diseaseJOHANSSON, Annica; KATZOV, Hagit; BLENNOW, Kaj et al.Human genetics. 2004, Vol 114, Num 6, pp 581-587, issn 0340-6717, 7 p.Article

Haplotypes extending across ACE are associated with Alzheimer's diseaseKEHOE, Patrick G; KATZOV, Hagit; BLENNOW, Kaj et al.Human molecular genetics (Print). 2003, Vol 12, Num 8, pp 859-867, issn 0964-6906, 9 p.Article

SNP association studies in Alzheimer' disease highlight problems for complex disease analysisEMAHAZION, Tesfai; FEUK, Lars; JOBS, Magnus et al.Trends in genetics (Regular ed.). 2001, Vol 17, Num 7, pp 407-413, issn 0168-9525Article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsPINTO, Dalila; DARVISHI, Katayoon; PRASAD, Aparna et al.Nature biotechnology (Print). 2011, Vol 29, Num 6, pp 512-520, issn 1087-0156, 9 p.Article

Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastomaNORTHCOTT, Paul A; NAKAHARA, Yukiko; RA, Young-Shin et al.Nature genetics. 2009, Vol 41, Num 4, pp 465-472, issn 1061-4036, 8 p.Article

Structural Variation of Chromosomes in Autism Spectrum DisorderMARSHALL, Christian R; NOOR, Abdul; THIRUVAHINDRAPDURAM, Bhooma et al.American journal of human genetics. 2008, Vol 82, Num 2, pp 477-488, issn 0002-9297, 12 p.Article

Challenges and standards in integrating surveys of structural variationSCHERER, Stephen W; LEE, Charles; BIRNEY, Ewan et al.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S7-S15, SUPArticle

Global variation in copy number in the human genomeREDON, Richard; ISHIKAWA, Shumpei; EUN KYUNG CHO et al.Nature (London). 2006, Vol 444, Num 7118, pp 444-454, issn 0028-0836, 11 p.Article

Sequence variants of IDE are associated with the extent of β-amyloid deposition in the Alzheimer's disease brainBLOMQVIST, Mia E.-L; CHALMERS, Katy; KEHOE, Patrick G et al.Neurobiology of aging. 2005, Vol 26, Num 6, pp 795-802, issn 0197-4580, 8 p.Article

Detection of large-scale variation in the human genomeIAFRATE, A. John; FEUK, Lars; RIVERA, Miguel N et al.Nature genetics. 2004, Vol 36, Num 9, pp 949-951, issn 1061-4036, 3 p.Article

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2SPIEGEL, Ronen; PINES, Ophry; SHALEV, Stavit et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 518-523, issn 0002-9297, 6 p.Article