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Author Details
Full Name
Lynn B Jorde
Affiliation
University of Utah School of Medicine
ORCID
Career Start Year
1981
Papers
252
H Index
76
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36161750
Familial aggregation of stillbirth: A pedigree analysis of a matched case-control study.
BJOG
2023
37792690
Characterizing genetic variation in the regulation of the ER stress response through computational and cis-eQTL analyses.
G3 (Bethesda)
2023
36800380
Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study.
PLoS One
2023
36510265
The mutational dynamics of short tandem repeats in large, multigenerational families.
Genome Biol
2022
34135078
Pathogenic Effect of <i>TP73</i> Gene Variants in People With Amyotrophic Lateral Sclerosis.
Neurology
2021
34158539
Mobile element insertions and associated structural variants in longitudinal breast cancer samples.
Sci Rep
2021
34027416
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.
Blood Cancer Discov
2021
32561805
Germline mutation rates in young adults predict longevity and reproductive lifespan.
Sci Rep
2020
32058561
Genetic Ancestry Testing: What Is It and Why Is It Important?
JAMA
2020
32049421
Association of West African ancestry and blood pressure control among African Americans taking antihypertensive medication in the Jackson Heart Study.
J Clin Hypertens (Greenwich)
2020
32067044
TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data.
Nucleic Acids Res
2020
32359137
The Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity.
Genome Biol Evol
2020
31019089
Overlooked roles of DNA damage and maternal age in generating human germline mutations.
Proc Natl Acad Sci U S A
2019
31268507
Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
JAMA Psychiatry
2019
31549960
Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.
Elife
2019
31575651
Pedigree-based estimation of human mobile element retrotransposition rates.
Genome Res
2019
29240891
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
J Clin Endocrinol Metab
2018
30166421
Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.
G3 (Bethesda)
2018
28139890
Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth: a case-control study.
BJOG
2018
29528363
West African Ancestry and Nocturnal Blood Pressure in African Americans: The Jackson Heart Study.
Am J Hypertens
2018
29463208
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.
BMC Bioinformatics
2018
28770012
Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations.
Mob DNA
2017
28448578
Evolutionary history of Tibetans inferred from whole-genome sequencing.
PLoS Genet
2017
29367954
<i>POLR2C</i> Mutations Are Associated With Primary Ovarian Insufficiency in Women.
J Endocr Soc
2017
28532386
Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
BMC Genomics
2017
28642336
The evolving genetic risk for sporadic ALS.
Neurology
2017
27374771
PADRE: Pedigree-Aware Distant-Relationship Estimation.
Am J Hum Genet
2016
27629384
Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.
J Thromb Haemost
2016
27654912
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Nature
2016
27490348
A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.
PLoS One
2016
25468874
The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.
Mol Biol Evol
2015
26249230
Global diversity, population stratification, and selection of human copy-number variation.
Science
2015
26322789
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
2015
26454145
Adaptive genetic changes related to haemoglobin concentration in native high-altitude Tibetans.
Exp Physiol
2015
26121141
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
PLoS One
2015
25920518
The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth.
Hum Genet
2015
26014613
Targeted Capture of Phylogenetically Informative Ves SINE Insertions in Genus Myotis.
Genome Biol Evol
2015
25996915
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
2015
24497848
Relationship estimation from whole-genome sequence data.
PLoS Genet
2014
25093581
Clinical and biochemical function of polymorphic NR0B1 GGAA-microsatellites in Ewing sarcoma: a report from the Children's Oncology Group.
PLoS One
2014
25129147
A genetic mechanism for Tibetan high-altitude adaptation.
Nat Genet
2014
24837662
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Nat Biotechnol
2014
24763993
Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.
Curr Protoc Hum Genet
2014
24594138
Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention.
Am J Obstet Gynecol
2014
24642866
Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations.
PLoS One
2014
24702956
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Am J Hum Genet
2014
24472623
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
J Allergy Clin Immunol
2014
23312846
Mobile element biology: new possibilities with high-throughput sequencing.
Trends Genet
2013
24140114
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Am J Hum Genet
2013
24160187
Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA.
Pediatr Rheumatol Online J
2013
1 - 50 of 252
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Martin G Reese
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Kang Zhang
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