Lynn Jorde
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American geneticist
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Lynn Jorde's Degrees
- PhD Genetics University of Utah
- Bachelors Biology University of Utah
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(Suggest an Edit or Addition)According to Wikipedia, Lynn B. Jorde is an American human geneticist. He is a professor in, and chair of, the Department of Human Genetics at the University of Utah School of Medicine, where he holds a H.A. and Edna Benning Presidential Endowed Chair.
Lynn Jorde's Published Works
Published Works
- A global reference for human genetic variation (2015) (11857)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing (2010) (1072)
- The Simons Genome Diversity Project: 300 genomes from 142 diverse populations (2016) (1009)
- Genetic Evidence for High-Altitude Adaptation in Tibet (2010) (949)
- Genetic traces of ancient demography. (1998) (653)
- Genetic variation, classification and 'race' (2004) (537)
- The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. (2000) (506)
- Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome (1997) (471)
- Genetic evidence on the origins of Indian caste populations. (2001) (403)
- Linkage disequilibrium and the search for complex disease genes. (2000) (384)
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (2012) (329)
- A genetic mechanism for Tibetan high-altitude adaptation (2014) (321)
- Human population genetic structure and inference of group membership. (2003) (310)
- Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. (2004) (308)
- Linkage disequilibrium as a gene-mapping tool. (1995) (297)
- Global diversity, population stratification, and selection of human copy-number variation (2015) (296)
- A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans (2011) (293)
- Mobile elements create structural variation: analysis of a complete human genome. (2009) (285)
- The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling. (1989) (266)
- The UCLA-University of Utah epidemiologic survey of autism: prevalence. (1989) (253)
- Microsatellite diversity and the demographic history of modern humans. (1997) (252)
- Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome (2006) (242)
- Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. (1995) (238)
- Microsatellites as EWS/FLI response elements in Ewing's sarcoma (2008) (236)
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. (2011) (233)
- Signatures of population expansion in microsatellite repeat data. (1998) (232)
- Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. (2003) (225)
- Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. (2008) (223)
- The Common Marmoset Genome Provides Insight into Primate Biology and Evolution (2014) (219)
- A revised and extended classification of the distal arthrogryposes. (1996) (217)
- A probabilistic disease-gene finder for personal genomes. (2011) (211)
- Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci (2005) (210)
- Complex segregation analysis of autism. (1991) (207)
- Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. (2013) (201)
- Genetic Similarities Within and Between Human Populations (2007) (199)
- Using mitochondrial and nuclear DNA markers to reconstruct human evolution (1998) (194)
- Genetic evidence on modern human origins. (1995) (193)
- Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (2003) (193)
- Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications (2008) (190)
- A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5 (2002) (190)
- Larger genetic differences within africans than between Africans and Eurasians. (2002) (188)
- Ancestry and disease in the age of genomic medicine. (2010) (185)
- Genetic distances between the Utah Mormons and related populations. (1984) (184)
- Alu elements and hominid phylogenetics (2003) (181)
- Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms. (2001) (178)
- Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. (2014) (175)
- Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity. (2001) (175)
- The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. (1999) (173)
- A comprehensive analysis of recently integrated human Ta L1 elements. (2002) (154)
- Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation (2005) (146)
- Female gene flow stratifies Hindu castes (1998) (145)
- Mitochondrial mismatch analysis is insensitive to the mutational process. (1996) (143)
- The Genetic Structure of Subdivided Human Populations (1980) (141)
- Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. (1994) (137)
- The UCLA-University of Utah epidemiologic survey of autism: prenatal, perinatal, and postnatal factors. (1990) (136)
- Inbreeding in the Utah Mormons: an evaluation of estimates based on pedigrees, isonymy, and migration matrices (1989) (135)
- Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. (2003) (134)
- The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades (2014) (134)
- Maximum-likelihood estimation of recent shared ancestry (ERSA). (2011) (133)
- Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. (2004) (133)
- Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. (2002) (131)
- Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (2003) (130)
- Mobile DNA elements in primate and human evolution. (2007) (129)
- A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. (2006) (124)
- The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases. (1990) (123)
- Population genomics: a bridge from evolutionary history to genetic medicine. (2001) (122)
- Genetic determinants of Tibetan high-altitude adaptation (2012) (117)
- Variation in the human TAS1R taste receptor genes. (2006) (117)
- Long-term outcome and prognostic indicators in the hemolytic-uremic syndrome. (1991) (116)
- Mitochondrial and nuclear genetic relationships among Pacific Island and Asian populations. (1998) (113)
- Insights into the demographic history of African Pygmies from complete mitochondrial genomes. (2011) (112)
- Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. (1994) (111)
- Overlooked roles of DNA damage and maternal age in generating human germline mutations (2018) (111)
- Recently integrated Alu elements and human genomic diversity. (2003) (107)
- Genetic evidence for larger African population size during recent human evolution. (1999) (103)
- Fine-scaled human genetic structure revealed by SNP microarrays. (2009) (101)
- Population genetics of trinucleotide repeat polymorphisms. (1995) (101)
- Mobile element scanning (ME-Scan) by targeted high-throughput sequencing (2010) (100)
- A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data (2014) (96)
- Balinese Y-Chromosome Perspective on the Peopling of Indonesia: Genetic Contributions from Pre-Neolithic Hunter-Gatherers, Austronesian Farmers, and Indian Traders (2005) (92)
- DNA sequence variation in a 3.7-kb noncoding sequence 5' of the CYP1A2 gene: implications for human population history and natural selection. (2002) (87)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
- Ascertainment bias in estimates of average heterozygosity. (1996) (84)
- Gene Flow from the Indian Subcontinent to Australia Evidence from the Y Chromosome (2002) (84)
- Vitamin D Receptor Polymorphisms and Nutritional Rickets in Nigerian Children (2000) (83)
- Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. (2010) (81)
- Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation (2019) (79)
- Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. (2009) (76)
- Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome (1998) (75)
- Gene Mapping in Isolated Populations: New Roles for Old Friends? (1999) (74)
- The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. (1990) (74)
- Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. (1993) (72)
- Genome-wide analysis of the human Alu Yb-lineage (2004) (71)
- Relationship Estimation from Whole-Genome Sequence Data (2014) (70)
- A method for detecting recent selection in the human genome from allele age estimates. (2003) (69)
- Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. (1998) (67)
- Length Polymorphism of Thymidylate Synthase Regulatory Region in Chinese Populations and Evolution of the Novel Alleles (2002) (66)
- Human Population Genetic Structure and Diversity Inferred from Polymorphic L1(LINE-1) and Alu Insertions (2006) (66)
- Quantification of the familial contribution to juvenile idiopathic arthritis. (2010) (64)
- Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. (2012) (64)
- Affinities among Melanesians, Micronesians, and Polynesians: A Neutral, Biparental Genetic Perspective (2002) (63)
- Evolutionary history of Tibetans inferred from whole-genome sequencing (2017) (63)
- Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8 (2006) (63)
- Genetic diversity in India and the inference of Eurasian population expansion (2010) (63)
- Multiple origins of the mtDNA 9-bp deletion in populations of South India. (1999) (61)
- The inheritance of high density lipoprotein cholesterol and apolipoproteins A-I and A-II. (1984) (60)
- Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (2015) (60)
- Consanguinity and Prereproductive Mortality in the Utah Mormon Population (2001) (57)
- Historical epidemiology of smallpox in Åland, Finland: 1751–1890 (1984) (57)
- Alu repeats increase local recombination rates (2009) (57)
- Genetics and Population History of Caucasus Populations (2003) (57)
- Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations (2013) (56)
- Pedigree-based estimation of human mobile element retrotransposition rates (2018) (56)
- A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. (1997) (55)
- Crohn's disease and genetic hitchhiking at IBD5. (2012) (55)
- Mobile element biology: new possibilities with high-throughput sequencing. (2013) (55)
- Heritability of Anthropometric Phenotypes in Caste Populations of Visakhapatnam, India (2002) (54)
- A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers. (1988) (54)
- Relation between family history of coronary artery disease and coronary risk variables. (1988) (54)
- Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados (2009) (53)
- Mobile elements reveal small population size in the ancient ancestors of Homo sapiens (2010) (53)
- Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region. (1994) (51)
- Inbreeding in Finland. (1991) (50)
- Genomic Analysis of Natural Selection and Phenotypic Variation in High-Altitude Mongolians (2013) (50)
- mtDNA variation in caste populations of Andhra Pradesh, India. (1996) (49)
- Epidemiology of neural tube defects in Utah, 1940-1979. (1984) (49)
- Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5. (2005) (48)
- Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. (2014) (47)
- The genetic epidemiology of hypertension: a review of past studies and current results for 948 persons in 48 Utah pedigrees. (1984) (46)
- Phenotypic heterogeneity in neural tube defects: a clue to causal heterogeneity. (1983) (45)
- A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (1994) (45)
- Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q. (1986) (45)
- Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites. (2003) (45)
- De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families (2020) (44)
- Ancestry of the Iban Is Predominantly Southeast Asian: Genetic Evidence from Autosomal, Mitochondrial, and Y Chromosomes (2011) (43)
- HUMAN GENETIC DISTANCE STUDIES: Present Status and Future (1985) (43)
- Genotype–phenotype analysis of angiotensinogen polymorphisms and essential hypertension: the importance of haplotypes (2010) (43)
- LINE-1 preTa elements in the human genome. (2003) (42)
- Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis (2006) (41)
- Comprehensive Analysis of Two Alu Yd Subfamilies (2003) (41)
- Spinal dysraphia as an autosomal dominant defect in four families. (1982) (41)
- Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data (2004) (41)
- Comprehensive analysis of Alu-associated diversity on the human sex chromosomes. (2003) (40)
- Genetic structure of the Utah Mormons: isonymy analysis. (1987) (40)
- Genetic Microevolution in the Åland Islands, Finland (1982) (39)
- The evolving genetic risk for sporadic ALS (2017) (39)
- Shared and Unique Signals of High-Altitude Adaptation in Geographically Distinct Tibetan Populations (2014) (39)
- The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth (2015) (38)
- Distal arthrogryposis type 1: clinical analysis of a large kindred. (1996) (38)
- The genetic structure of the Utah Mormons: migration analysis. (1982) (37)
- Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. (2019) (37)
- Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation (2018) (36)
- Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis (2013) (35)
- A gene for ulnar-mammary syndrome maps to 12q23-q24.1. (1995) (35)
- Mitochondrial DNA Variation in Nicobarese Islanders (2001) (35)
- Founder effect and genetic disease in Sottunga, Finland. (1988) (34)
- Founder effect: assessment of variation in genetic contributions among founders. (1994) (34)
- EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populations. (2012) (34)
- Mapping Human History: Discovering the Past through Our Genes (2002) (34)
- Diversity and Divergence Among the Tribal Populations of India (2005) (33)
- Reconstructing the History of Human Limb Development: Lessons from Birth Defects (1999) (33)
- Clinical and Biochemical Function of Polymorphic NR0B1 GGAA-Microsatellites in Ewing Sarcoma: A Report from the Children's Oncology Group (2014) (32)
- Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan (2008) (31)
- HapMap tagSNP transferability in multiple populations: general guidelines. (2008) (31)
- Genetic structure of the Utah Mormons: comparison of results based on RFLPs, blood groups, migration matrices, isonymy, and pedigrees. (1994) (31)
- Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family. (2009) (30)
- Smallpox and its eradication in Finland: implications for disease control. (1989) (30)
- Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing Data (2014) (30)
- Epidemiology and genetics of neural tube defects: an application of the Utah Genealogical Data Base. (1983) (30)
- Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention. (2014) (29)
- Loss of Chromosome 17 loci in prostate cancer detected by polymerase chain reaction quantitation of allelic markers (1995) (29)
- Adaptive genetic changes related to haemoglobin concentration in native high‐altitude Tibetans (2015) (29)
- Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA (2013) (28)
- Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India. (2009) (28)
- Genetic structure of the Saguenay, 1852-1911: evidence from migration and isonymy matrices. (1988) (28)
- PADRE: Pedigree-Aware Distant-Relationship Estimation. (2016) (28)
- Ethnogenomic diversity of Caucasus, Daghestan (2006) (26)
- Lack of association of diagonal earlobe crease with other cardiovascular risk factors. (1984) (26)
- Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus. (1996) (26)
- A Statistical Analysis of Selected Aspects of Primate Demography, Ecology, and Social Behavior (1974) (24)
- Opportunity for natural selection in the Utah Mormons. (1986) (24)
- Genetic adaptation to high altitude (1994) (24)
- T‐Box Genes (2002) (24)
- Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World (2012) (23)
- Extremely low-coverage whole genome sequencing in South Asians captures population genomics information (2017) (23)
- The effect of non‐random migration on genetic differences between populations (1987) (22)
- High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays. (2008) (22)
- The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool (2018) (21)
- Inbreeding and genetic disease in Sottunga, Finland. (1988) (21)
- The genetic structure of Iceland. (1982) (21)
- Innovative blood pressure measurements yield information not reflected by sitting measurements. (1986) (21)
- Genetic structure in Cumbria (1981) (19)
- Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases (1992) (19)
- Evaluating the genetic risk of breast cancer. (1998) (19)
- Twinning rate in Scandinavia, Germany and The Netherlands during years of privation. (1988) (19)
- Targeted Capture of Phylogenetically Informative Ves SINE Insertions in Genus Myotis (2015) (18)
- Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) (2015) (17)
- Limited Distribution of a Cardiomyopathy‐Associated Variant in India (2010) (17)
- Primate Phylogeny, Ecology, and Social Behavior (1975) (17)
- Population structure in the Connecticut Valley. I. Marital migration. (1984) (17)
- Genetic Evidence on the Origins of Indian Caste Populations (2001) (16)
- AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees. (2010) (16)
- Genetic variation in Cumbrians. (1981) (16)
- Germline mutation rates in young adults predict longevity and reproductive lifespan (2019) (15)
- HISTORICAL EPIDEMIOLOGY OF SMALLPOX IN ALAND (1984) (15)
- Modeling the Amplification Dynamics of Human Alu Retrotransposons (2005) (15)
- Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation (2019) (15)
- The UCLA-University of Utah epidemiologic survey of autism: Recurrent infections (1993) (15)
- Infant mortality patterns in Aland, Finland. (1983) (15)
- Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers. (2021) (14)
- Factor analysis suggesting contrasting determinants for different blood pressure measurements. (1986) (14)
- The Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity (2020) (14)
- A Genome-Wide Association Study of spontaneous preterm birth in a European population (2013) (13)
- Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis. (2008) (13)
- Duplication and divergence in humans and chimpanzees (2006) (13)
- Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor. (2004) (13)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data (2019) (12)
- Demographic patterns in the Aland Islands Finland 1750-1900. (1987) (11)
- The Genetics of Hypertension: An Unsolved Puzzle With Many Pieces (1987) (11)
- POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women. (2017) (11)
- Idiopathic Hemochromatosis: Significance and Implications of Linkage and Association to HLA (1988) (11)
- Erratum to: Genetic adaptation to extreme hypoxia: Study of high-altitude pulmonary edema in a three-generation Han Chinese family [Blood Cells Mol. Dis. 43:3 (2009) 221-225]. (2010) (10)
- Human variome project country nodes: Documenting genetic information within a country (2012) (10)
- Consanguinity avoidance and mate choice in Sottunga, Finland (1989) (10)
- Ancestral alleles and population origins: inferences depend on mutation rate. (2007) (9)
- POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women (2017) (9)
- Estimating the age of retrotransposon subfamilies using maximum likelihood. (2009) (9)
- Cross-spectral analysis of rainfall and human birth rate: An empirical test of a linear model (1976) (9)
- A nonparametric distance analysis of biochemical genetic data from the Aland Islands, Finland. (1982) (9)
- Genetics for the Human Race (2004) (9)
- Temporal, Seasonal, and Regional Differences in Births and Deaths in Åland (Finland) (2008) (8)
- Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (8)
- Predicting smallpox epidemics: A statistical analysis of two Finnish populations (1989) (8)
- Gene Mapping and Identification (2010) (8)
- Pharmacogenomics of 17‐alpha hydroxyprogesterone caproate for recurrent preterm birth: a case–control study (2018) (8)
- Reply to Zapata and Visedo. (1995) (8)
- Crohn ’ s Disease and Genetic Hitchhiking at IBD 5 (2011) (8)
- Genetic Ancestry Testing: What Is It and Why Is It Important? (2020) (7)
- Genetic analysis of the Utah population: a comparison of STR and VNTR loci. (2000) (7)
- A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population (2016) (7)
- Genetic structure of the Utah Mormons: A comparison of kinship estimates from DNA blood groups, genealogies, and ancestral arrays (1996) (7)
- Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations (2017) (7)
- Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (2015) (7)
- Marital migration and genetic structure in Kitee, Finland. (1988) (6)
- West African Ancestry and Nocturnal Blood Pressure in African Americans: The Jackson Heart Study (2018) (6)
- Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis (2021) (6)
- Lack of association between beta 2‐adrenergic receptor polymorphisms and juvenile idiopathic arthritis (2009) (6)
- Hamartoma syndromes, exome sequencing, and a protean puzzle. (2011) (6)
- Combined variants in factor VIII and prostaglandin synthase‐1 amplify hemorrhage severity across three generations of descendants (2016) (6)
- Family history as an independent risk factor for coronary arterty disease (1990) (6)
- STR Polymorphism in Indigenous Daghestan Populations (2004) (5)
- Getting a LEAD on EEC (2000) (5)
- Human Genetic Diversity (2008) (5)
- Erratum: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency (American Journal of Human Genetics (2011) 89 (28-43)) (2011) (5)
- Mobile element insertions and associated structural variants in longitudinal breast cancer samples (2020) (5)
- Association of West African ancestry and blood pressure control among African Americans taking antihypertensive medication in the Jackson Heart Study (2020) (4)
- Principles of population genetics. By Daniel L. Hartl. Sunderland, Massachusetts: Sinauer Associates. 1980. XVI + 488 pp., figures, tables, answers, bibliography, indices. $19.75 (cloth) (1982) (4)
- Genetic variation and cardiovascular care. (2004) (3)
- Erratum: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (PLoS ONE (2015) 10:8 (e0137370) (doi:10.1371/journal.pone.0137370)) (2015) (3)
- Genetic Testing and Gene Therapy (2010) (3)
- Consanguinity and Genetic Disease in Finland’s Swedish-Speaking Minority (1992) (3)
- Where We're Hot, They're Not (2005) (3)
- Clinical Genetics and Genetic Counseling (2010) (3)
- BIOCHEMICAL HETEROZYGOSITY AND MORPHOLOGIC VARIATION IN A COLONY OF PAPIO HAMADRYAS HAMADRYAS BABOONS (1994) (3)
- The mutational dynamics of short tandem repeats in large, multigenerational families (2021) (2)
- Getting a LEAD on EEC. (2000) (2)
- 2011 Presidential Address: from classroom to courtroom to clinic-closing the gaps in human genetics education. (2012) (2)
- . Ancestry, Disease and Variable Drug Response in the Genomic Era (2012) (2)
- Basic Cell Biology (2010) (2)
- [STR polymorphism in populations of indigenous Daghestan ethnic groups]. (2004) (2)
- Genetic variation and its maintenance: Population structure studies and genetic variability in humans (1986) (2)
- Diseases of complex etiology in small populations: Ethnic differences and research approaches. Edited by R. Chakraborty and E. J. E. Szathmary. New York: Alan R. Liss, Inc. 1985. xii + 423 pp., figures, tables, references, index. $49.50 (cloth) (1986) (1)
- human genome Mobile elements create structural variation : Analysis of a complete Material Supplemental (2009) (1)
- Genetics and Personalized Medicine (2010) (1)
- Medically relevant variation in the human genome (2010) (1)
- Large-scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers. (2021) (1)
- Migration and genetic structure in Northumberland. (1990) (1)
- 530: Next generation sequencing identifies the IL-12 receptor beta gene as a potential mediator in the response to 17-alpha-hydroxyprogesterone caproate for the prevention of recurrent prematurity (2012) (1)
- Human Genetic Variation and Disease (2006) (1)
- Alu insertions in diverse human populations Mobile element scanning ( ME-Scan ) identifies thousands of novel Material Supplemental (2013) (1)
- Targeted Gene Sequencing in Children with Crohn’s Disease and Their Parents: Implications for Missing Heritability (2018) (1)
- Early Y chromosome lineages in Africa: the origin and dispersal of Homo sapiens (2011) (1)
- Multifactorial Inheritance and Common Diseases (2010) (1)
- Medical genetics. (2009) (1)
- Lower germline mutation rates in young adults predict longer lives and longer reproductive lifespans (2019) (1)
- Consanguinity and fertility: A global perspective (1992) (1)
- Whole-genome sequencing and disease-gene detection (2012) (1)
- Background and History (2010) (1)
- Human Population Dynamics: Cross-Disciplinary Perspectives: Genetic structure of south Indian caste populations: a confluence of biology and culture (2002) (1)
- Genetic and demographic studies and the Utah genealogical data base (1984) (1)
- Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World (2012) (1)
- Questioning evidence for recombination in human mitochondrial DNA. (2000) (1)
- Integrated Alu Elements and Human Genomic Diversity (2003) (1)
- A BglII RFLP near the human neurofibromatosis type 1 (NF1) gene. (1991) (1)
- FemalegeneflowstratifiesHinducastes scientific correspondence (0)
- Book Review:Genetic Data Analysis: Methods for Discrete Population Genetic Data. Bruce S. Weir (1991) (0)
- Germline mutation rates in young adults predict longevity and reproductive lifespan (2020) (0)
- Abstract 3979: Ethnic polymorphisms in the GGAA microsatellite response element of key Ewing's sarcoma EWS/FLI-target genes (2012) (0)
- TBX3, TBX5, and the Ulnar-Mammary and Holt-Oram Syndromes (2016) (0)
- TITLE Genetic Similarities Within and Between Human Populations AUTHORS (2007) (0)
- Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study (2023) (0)
- Reconstructing the history of human limb development (1999) (0)
- A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia. (2012) (0)
- Original Research Article Ethnogenomic Diversity of Caucasus, Daghestan (2006) (0)
- TP73 Is an Amyotrophic Lateral Sclerosis Candidate Risk Gene (S25.006) (2018) (0)
- 242: Gene set enrichment investigation of maternal exome variation in spontaneous preterm birth (SPTB) (2016) (0)
- D em ographic Patterns in the Ä la n d Island s, F in la n d , 1750 — 1900 (2014) (0)
- Human Evolutionary Genetics: Origins, Peoples & Disease.ByMark A Jobling,, Matthew Hurles, and, Chris Tyler‐Smith. New York: Garland Science.$59.95 (paper). xx + 523 ; ill.; index. ISBN: 0‐8153‐4185‐7. 2004. (2005) (0)
- The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth (2015) (0)
- Instructions to contributors (1975) (0)
- Basic human genetics (2000) (0)
- Heterozygous Mutations in NFKB2 Exhibit a Broad Clinical Phenotype (2018) (0)
- Familial aggregation of stillbirth: A pedigree analysis of a matched case–control study (2022) (0)
- Book Review:Human Population Genetics: A Centennial Tribute to J. B. S. Haldane. Partha P. Majumder (1995) (0)
- Genealogical studies of isolated hydrocephalus and neural tube defects (1982) (0)
- Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations (2017) (0)
- Physical Anthropology (1983) (0)
- Erratum: Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome (Nature Genetics (1997) 16 (pp. 311- 315)) (1998) (0)
- Clinical and function of polymorphic GGAA-microsatellites in Ewing sarcoma: a report from the Children's Group. (2014) (0)
- 12: Genetic variation may influence response to 17-alpha hydroxyprogesterone caproate (17P) for recurrent preterm birth (PTB) prevention (2016) (0)
- Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (0)
- S01. Ptosis, arched eyebrows, hypernasal speech, obesity and mild learning disability - a clinical & mapping study. (2011) (0)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
- Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis (2013) (0)
- 10FIRST GENOME-WIDE ASSOCIATION STUDY OF SCHIZOPHRENIA IN AN INDIAN POPULATION REVEALS A NOVEL SUSCEPTIBILITY LOCUS (2019) (0)
- 9: Genetic variation in key biologic processes may influence response to 17-alpha hydroxyprogesterone caproate (17P) for recurrent preterm birth (PTB) prevention (2014) (0)
- A primer of population genetics. Hartl DL Sinauer Associates Inc Publ, Sunderland, MA, 1981. 191 pp (1984) (0)
- Loss of TP73 function contributes to amyotrophic lateral sclerosis pathogenesis (2018) (0)
- INVITED EDITORIAL Linkage Disequilibrium as a Gene-Mapping Tool (2007) (0)
- COLONY OF PAPIO HAMADRYAS HAMADRYAS BABOONS (1994) (0)
- Genetic determinants of Tibetan high-altitude adaptation (2011) (0)
- 397: Mapping genetic susceptibility to preterm birth: Analysis of Utah pedigrees using shared genomic segment analysis (2016) (0)
- Genetics of Cellular, Individual, Family, and Population Variability. (1995) (0)
- Adaptive changes related to hemoglobin levels in native high-altitude Tibetans (2014) (0)
- Autosomal Dominant and Recessive Inheritance (2010) (0)
- Caste, geography and genetic structure in Hindu populations. (2003) (0)
- Clinical Investi ation Lack of Association of Diagonal Earlobe Crease With Other Cardiovascular Risk Factors (0)
- Author response: Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation (2019) (0)
- Using VAAST and massively parallel sequencing to characterize a novel disorder caused by protein N-terminal acetyltransferase deficiency (2012) (0)
- Genome sans frontieres (2006) (0)
- Maximum-likelihood estimation of recent shared ancestry ( ERSA ) Material Supplemental (2011) (0)
- A wonderfully diverse life (2005) (0)
- Evolution. Where we're hot, they're not. (2005) (0)
- Services DRAFT meeting summary Summary of the Symposium on Genetic Variation and Gene Environment Interaction in Human Health and Disease April 16 , 2003 (2003) (0)
- MFN2 Influences Amyotrophic Lateral Sclerosis Pathology (2021) (0)
- M2058 The Distribution of the IBD5 Haplotype Among Worldwide Human Populations (2008) (0)
- Origins andAffinities ofModernHumans:A Comparison ofMitochondrial andNuclear Genetic Data (1995) (0)
- Dominant Traits and Diseases (2008) (0)
- Direct measurement of de novo structural variation through whole-genome sequencing of three-generation human pedigrees (2018) (0)
- No genotype-phenotype correlation in Holt-Oram syndrome (2002) (0)
- Extremely low-coverage whole genome sequencing in South Asians captures population genomics information (2017) (0)
- Sex-Linked and Nontraditional Modes of Inheritance (2010) (0)
- GENETIC ANALYSIS OF SPONTANEOUS PRETERM BIRTH by Chen-Han (2013) (0)
- Is schizophrenia risk related to disordered niacin metabolism? Evidence from an Indian 1 genome-wide association study 2 (2020) (0)
- Comprar Medical Genetics, 4th Edition | Lynn B. Jorde | 9780323053730 | Mosby (2009) (0)
- The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool (2018) (0)
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