
- Adaptive evolution of conserved non-coding elements in Su Yeon Kima
- Documentation for TreeLD, version 1.0 Algorithm by Sebastian Zollner
- TECHNICAL ADVANCES Inferring weak population structure with the assistance of
- J. theor. Biol. (1999) 197, 541556 Article No. jtbi.1998.0894, available online at http://www.idealibrary.com on
- Information for Patients, Families, and Non-Genetic Professionals What do I need to know about testing my child for oral-facial-digital syndrome, type 1?
- Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1a are Associated
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- BIOLOGICAL PSYCHIATRY -ORIGINAL ARTICLE Negative emotionality: monoamine oxidase B gene variants
- Animal Models of Prenatal Protein Malnutrition Relevant for Schizophrenia Lisa M. Tarantino1
- Statistical Analysis of Chromatid Interference Hongyu Zhao, Mary Sara McPeek and Terence P. Speed
- RESEARCH ARTICLE Sequencing and Analysis of
- Clinical Features: Wilson disease is characterized by
- High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
- The allelic architecture of human disease genes: common diseasecommon variant . . . or not?
- A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
- Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
- Differences between males and females in anatomical, physiological and behavioural traits are characteris-
- UNCORRECTED Sensitivity to the locomotor-stimulant effects of
- Submitted to the Annals of Applied Statistics A NESTED MIXTURE MODEL FOR PROTEIN
- doi: 10.1111/j.1469-1809.2008.00457.x Using Population Mixtures to Optimize the Utility of
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- PERSPECTIVE The population genetics of structural variation
- Adaptations to Climate in Candidate Genes for Common Metabolic Disorders
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- Interrogating multiple aspects of variation in a full resequencing data set to infer human population
- In humans, recombination is subject to the dual constraints of ensuring accurate disjunction while
- Interpreting principal component analyses of spatial population genetic variation
- Clinical Features: Early infantile epileptic encephalopathy (EIEE) [MIM #308350], also known as Ohtahara syndrome, is a severe
- 2003 NaturePublishing Group Linkage disequilibrium (LD) refers to the fact that partic-
- DOI: 10.1126/science.1080857 , 1582 (2003);299Science
- Inference on pedigree structure from genome screen data Running title: Inference on pedigree structure
- Am. J. Hum. Genet. 76:449462, 2005 Accounting for Decay of Linkage Disequilibrium in Haplotype Inference
- Documentation for SCAT, version 1.0.2 Software code and documentation by Matthew Stephens1
- Protocol S1: Analytical computations for prior D2 B. Servin and M. Stephens
- Imputation-Based Analysis of Association Studies
- Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
- Analysis of Meiotic Segregation using SingleSperm Typing: Meiotic Drive at the Myotonic Dystrophy Locus
- Copyright 2003 by the Genetics Society of America Inference of Population Structure Using Multilocus Genotype Data
- Biostatistics (2006), 7, 1, pp. 8599 doi:10.1093/biostatistics/kxi042
- Haplotypic Background of a Private Allele at High Frequency in the Americas Kari B. Schroeder,* Mattias Jakobsson, Michael H. Crawford, Theodore G. Schurr,k Simina
- Copyright 2003 by the Genetics Society of America Estimating Ancestral Population Sizes and Divergence Times
- ORIGINAL INVESTIGATION A role for casein kinase 1 epsilon in the locomotor stimulant
- Current Biology 20, R208R215, February 23, 2010 2010 Elsevier Ltd All rights reserved DOI 10.1016/j.cub.2009.11.055 ReviewThe Genetics of Human Adaptation: Hard
- Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
- THE UNIVERSITY OF CHICAGO CHANGE OF STATUS FORM
- bimbam User Manual Yongtao Guan and Matthew Stephens
- Am. J. Hum. Genet. 74:6272, 2004 Evidence for Extensive Transmission Distortion in the Human Genome
- Copyright 2010 by the Genetics Society of America DOI: 10.1534/genetics.110.114819
- Molecular Ecology (2001) 10, 319336 2001 Blackwell Science Ltd
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- Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
- A Common and Unstable Copy Number Variant Is Associated with Differences in Glo1 Expression and
- Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive
- Clinical Features: A clinical diagnosis of Russell-Silver syndrome (RSS) is based upon the following features
- Am. J. Hum. Genet. 73:14021422, 2003 Informativeness of Genetic Markers for Inference of Ancestry*
- Statistical Analysis of Crossover Interference Using the Chisquare Model
- recombination Yoruba French Bedouin Makrani Han Papuan Maya
- Modeling Interference in Genetic Recombination Mary Sara McPeek, Terence P. Speed
- Clinical Features: Features of patients with SLC9A6 mutations include mental retardation, microcephaly, truncal ataxia, grand mal
- Information for Patients and Families What do I need to know about testing for Wilson disease?
- Clinical Features: Mutations in GJB2 [OMIM#121011] are typically characterized by congenital, non-syndromic, and non-
- A Map of Recent Positive Selection in the Human Genome
- Adaptive Evolution of Conserved Noncoding Elements in Mammals
- Clinical Features: Mutations in the NKX2.5 gene [OMIM #600584, 108900] have been described in numerous families with inherited
- Using DNA to track the origin of the largest ivory seizure since the 1989 trade ban
- N E W S A N D V I E W S than in control cells, and this effect should be
- Distinctive genetic signatures in the Libyan Jews Noah A. Rosenberg*
- Am. J. Hum. Genet. 76:349357, 2005 Fine Mapping and Positional Candidate Studies Identify HLA-G
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- ORIGINAL CONTRIBUTIONS Genetic architecture of fear conditioning in chromosome
- Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age
- Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or
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- Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
- Revealing the architecture of gene regulation: the promise of eQTL
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- Clinical Features: Patients with Kabuki syndrome, also called Kabuki make-up syndrome (KMS) [OMIM #147920] have
- Molecular Ecology Notes (2007) 7, 574578 doi: 10.1111/j.1471-8286.2007.01758.x 2007 The Authors
- Research Focus Can a genome change its (hot)spots?
- Copyright 0 1997hy the Genetics Society of America Polymorphism and Divergence at a Drosophila Pseudogene Locus
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- Characterizing natural variation using next-generation sequencing
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- Genetics of caffeine consumption and responses to caffeine Amy Yang & Abraham A. Palmer & Harriet de Wit
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- Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
- Information for Patients and Families What do I need to know about genetic testing microcephaly for my child?
- Clinical Features: ATP7A mutations confer phenotypic heterogeneity by displaying two distinct disorders
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- Information for Patients and Families What do I need to know about testing myself or my child for centronuclear or myotubular
- Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or
- Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
- Clinical Features: Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life
- Clinical Features: Mutations of the MEF2C gene [OMIM # 600662] have been identified in patients with severe mental retardation,
- Information for Patients and Families What do I need to know about testing my child for Cornelia de Lange syndrome?
- Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
- Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
- Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
- Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
- Clinical Features: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy
- Am. J. Hum. Genet. 65:220228, 1999 Use of Unlinked Genetic Markers to Detect Population Stratification in
- Convergent adaptation of human lactase persistence in Africa and Europe
- Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females.
- Classification: Statistics Robustness of the NoInterference Model
- Aust. N. Z. J. Stat. 45(4), 2003, 395430 THE INAUGURAL EDITOR'S INVITED PAPER FOR 2002
- Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by
- Clinical Features: Oral-facial-digital syndrome, type 1
- Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
- Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal
- Atypical Regions in Large Genomic DNA Sequences Stewart Scherer \Lambda1 , Mary Sara McPeek y2 , and Terence P. Speed y
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- DOI: 10.1126/science.1151851 , 1395 (2008);319Science
- www.ajhg.org The American Journal of Human Genetics Volume 81 July 2007 165 Correlation of Intergenerational Family Sizes Suggests a Genetic
- Human Reproduction Vol.21, No.7 pp. 17431748, 2006 doi:10.1093/humrep/del036 Advance Access publication February 24, 2006.
- Rethinking genetic models of asthma: the role of environmental Carole Ober and Emma E Thompson
- THE LANCET Vol 354 July 31, 1999 365 Background Couples with unexplained recurrent miscarriage
- Association between the Casein Kinase 1 Epsilon Gene Region and Subjective Response to D-Amphetamine
- Genes, Brain and Behavior (2007) 6: 736749 # 2007 The Authors Journal compilation # 2007 Blackwell Publishing Ltd
- ACUTE AND CHRONIC RESPONSES TO THE CONVULSANT PILOCARPINE IN DBA/2J AND A/J MICE
- ORIGINAL PAPER Rapid Selection Response for Contextual Fear Conditioning
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- ORIGINAL INVESTIGATION Further evidence of association between amphetamine
- Research article TheJournalofClinicalInvestigation http://www.jci.org Volume119 Number12 December2009 3703
- More Aroused, Less Fatigued: Fatty Acid Amide Hydrolase Gene Polymorphisms Influence Acute Response to
- ORIGINAL RESEARCH Polymorphisms in Dopamine Transporter (SLC6A3)
- Genes, Brain and Behavior (2010) 2010 The Authors Journal compilation 2010 Blackwell Publishing Ltd/International Behavioural and Neural Genetics Society
- Fine-mapping of muscle weight QTL in LG/J and SM/J intercrosses1 Lionikas A1
- Catechol-O-methyltransferase val158 met genotype modulates
- Understanding mechanisms underlying human gene expression variation with RNA sequencing
- The Role of Geography in Human Adaptation Graham Coop1.a
- Mol. Biol. Evol. 16(12):17911798. 1999 1999 by the Society for Molecular Biology and Evolution. ISSN: 0737-4038
- Submitted to the Annals of Applied Statistics STATISTICAL INFERENCE OF TRANSMISSION
- The usual (frequentist) approach to assessing evidence for a population association between genetic variants and
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- Signals of recent positive selection in a worldwide sample of human populations
- Am. J. Hum. Genet. 75:771789, 2004 Statistical Tests for Admixture Mapping with Case-Control and Cases-Only
- Am. J. Hum. Genet. 69:124137, 2001 Are Rare Variants Responsible for Susceptibility to Complex Diseases?
- Am. J. Hum. Genet. 73:11621169, 2003 A Comparison of Bayesian Methods for Haplotype Reconstruction from
- Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the
- Documentation for PHASE, version 2.1 Algorithm by Matthew Stephens1
- Assigning African elephant DNA to geographic region of origin: Applications to the ivory trade
- Copyright 2003 by the Genetics Society of America Modeling Linkage Disequilibrium and Identifying Recombination Hotspots
- News and Views A rod cell marker of nocturnal ancestry
- BIOINFORMATICS ORIGINAL PAPER Vol. 25 no. 24 2009, pages 32073212
- The Timing of Selection at the Human FOXP2 Gene Graham Coop,* Kevin Bullaughey, Francesca Luca,* and Molly Przeworski*
- Live Hot, Die Young: Transmission Distortion in Recombination Hotspots
- Clines, Clusters, and the Effect of Study Design on the Inference of Human Population
- BIOINFORMATICS APPLICATIONS NOTE Vol. 21 no. 14 2005, pages 31683170
- Copyright 2005 by the Genetics Society of America DOI: 10.1534/genetics.104.031799
- Am. J. Hum. Genet. 73:502515, 2003 Assessing the Performance of the Haplotype Block Model of Linkage
- Signatures of Domain Shuffling in the Human Genome
- Case-control studies of association in structured or admixed populations
- Am. J. Hum. Genet. 69:114, 2001 REVIEW ARTICLE
- University of Chicago, Department of Statistics Page 1 of 15 Directory, August 2010
- Biometrics DOI: 10.1111/j.1541-0420.2009.01270.x A Likelihood-Based Trait-Model-Free Approach for Linkage
- Protocol S2: MCMC sampling for prior D1 B. Servin and M. Stephens
- Copyright 2007 by the Genetics Society of America DOI: 10.1534/genetics.105.049080
- Vol. 23 no. 4 2007, pages 520521 doi:10.1093/bioinformatics/btl622BIOINFORMATICS APPLICATIONS NOTE
- Automating resequencing-based detection of insertion-deletion polymorphisms
- Insights into recombination from population genetic variation Garrett Hellenthal and Matthew Stephens
- Dealing with label switching in mixture models Matthew Stephens
- Bayesian Analysis of Mixture Models with an Unknown Number of Components-An Alternative to Reversible Jump Methods
- Theoretical Population Biology 57, 109 119 (2000) Times on Trees, and the Age of an Allele
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- Information for Patients and Families What is Angelman syndrome?
- Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as
- Clinical Features: ATP7A mutations confer phenotypic heterogeneity by displaying two distinct disorders
- CHARGE syndrome: Coloboma Heart defect
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- Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory
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- Information for Patients and Families What do I need to know about testing myself or my child for centronuclear or myotubular
- Information for Non-genetics Professionals Clinical Features
- Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000],
- Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,
- Clinical Features: Bilateral frontoparietal polymicrogyria (BFPP) [OMIM #606854] is characterized by moderate-severe mental
- Clinical Features, Molecular Genetics, and Inheritance: Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive
- Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
- Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
- Clinical Features: Mutations of the MEF2C gene [OMIM # 600662] have been identified in patients with severe mental retardation,
- Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
- Clinical Features: Oral-facial-digital syndrome, type 1
- Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and
- Clinical Features: Pantothenate Kinase-Associated Neurodegeneration (PKAN) is one type of NBIA (neurodegeneration with brain
- Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure onset in infancy
- Information for Patients and Families What do I need to know about testing my child for Robinow Syndrome?
- Clinical Features: Glucose transporter type 1 deficiency syndrome (GLUT1DS) [OMIM # 606777] is characterized by infantile-onset
- Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
- Clinical Features: Similar to other types of pontocerebellar hypoplasias (PCH), subtypes PCH2 (OMIM 277470) and PCH4 (OMIM
- Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM
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- Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and
- Clinical Features and Inheritance: Severe, de novo phenotype in females: X-linked mental retardation and microcephaly with pontine and cerebellar
- Am. J. Hum. Genet. 67:170181, 2000 Association Mapping in Structured Populations
- Autosomal recessive primary microcephaly (MCPH): Characterized by
- Theoretical Population Biology 75 (2009) 331345 Contents lists available at ScienceDirect
- Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy
- The Results of Gregor Mendel: An analysis, and comparison with the results of other researchers
- DOI: 10.1126/science.1151851 , 1395 (2008);319Science
- Information for Patients and Families What do I need to know about testing myself or my child for Charcot Marie Tooth disease?
- Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
- Information for Patients and Families What do I need to know about genetic testing microcephaly for my child?
- Clinical Features: Similar to other types of pontocerebellar hypoplasias (PCH), subtypes PCH2 (OMIM 277470) and PCH4 (OMIM
- Clinical Features and Molecular Genetics: Mutations in the ARX gene have been identified in patients with X-linked lissencephaly with ambiguous genitalia
- Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
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- Hum Genet (2008) 122:583588 DOI 10.1007/s00439-007-0432-1
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- Evaluation of Genetic Variability in the Dopamine Receptor D2 in Relation to Behavioral Inhibition and Impulsivity/Sensation Seeking
- Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as
- Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
- Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal
- Detection of Misspecified Relationships in Inbred and Outbred Pedigrees
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- ORIGINAL INVESTIGATION Are attention lapses related to d-amphetamine liking?
- Inference in molecular population genetics Matthew Stephens and Peter Donnelly
- Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth
- www.ajhg.org The American Journal of Human Genetics Volume 80 April 2007 605 Overcoming the Winner's Curse: Estimating Penetrance
- Selection on Human Genes as Revealed by Comparisons to Chimpanzee cDNA
- Gene Expression Levels Are a Target of Recent Natural Selection in the Human Sridhar Kudaravalli,* Jean-Baptiste Veyrieras,* Barbara E. Stranger, Emmanouil
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- Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
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- Risk Assessment of Colorectal Cancer Cancer of the colon and rectum (CRC) is the third most common cancer and the second leading
- Copyright 2000 by the Genetics Society of America Inference of Population Structure Using Multilocus Genotype Data
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- Confounding from Cryptic Relatedness in Case-Control Association Studies
- that polygenic models have
- 10.1101/gr.099226.109Access the most recent version at doi: published online December 15, 2009Genome Res.
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- www.ajhg.org The American Journal of Human Genetics Volume 81 October 2007 829 Allele-Specific Targeting of microRNAs to HLA-G and Risk
- Am. J. Hum. Genet. 68:978989, 2001 A New Statistical Method for Haplotype Reconstruction
- Am. J. Hum. Genet. 73:13301340, 2003 Comparative Linkage-Disequilibrium Analysis of the b-Globin Hotspot
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- Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by
- Clinical Features and Inheritance: Severe, de novo phenotype in females: X-linked mental retardation and microcephaly with pontine and cerebellar
- Copyright 2006 by the Genetics Society of America DOI: 10.1534/genetics.104.039271
- Clinical Features: Patients with X-linked chondrodysplasia punctata (CDPX2) [OMIM #302960], also known as Happle syndrome or
- ORIGINAL RESEARCH Differences in Aggressive Behavior and DNA Copy Number
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- Am. J. Hum. Genet. 72:14251435, 2003 Variation in the HLA-G Promoter Region Influences Miscarriage Rates
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