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List of works by Deborah A Nickerson

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

scientific article

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

scientific article

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics

scientific article published in May 2018

A case for expanding carrier testing to include actionable X-linked disorders

scientific article published on 19 September 2018

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

scientific article

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

scientific article

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

scientific article

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

scientific article published on 08 June 2009

A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians

scientific article published on 21 April 2015

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

scientific article

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

scientific article published on 28 January 2018

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

scientific article (publication date: 17 October 2013)

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

scientific article published on 03 July 2018

A variational Bayes discrete mixture test for rare variant association

scientific article

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

scientific article

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

scientific article

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

scientific article

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

scientific article

Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome

scientific article published on 25 July 2006

Allelic spectrum of the natural variation in CRP.

scientific article

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

scientific article

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

scientific article published on 24 October 2020

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

scientific article published on 11 December 2017

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

scientific article published on 27 July 2016

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

scientific article published on 19 November 2018

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry

scientific article

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

scientific article published in April 2018

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project

scientific article

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

scientific article published on January 2016

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

scientific article published on 15 July 2016

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events

scientific article published on 01 December 2006

Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program

scientific article published on 25 November 2020

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

scientific article published on June 2016

Automating resequencing-based detection of insertion-deletion polymorphisms

scientific article published on 19 November 2006

Automating sequence-based detection and genotyping of SNPs from diploid samples

scientific article

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

scientific article

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants

scientific article published on 7 December 2017

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

scientific article published on 18 November 2018

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

scientific article

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

scientific article published on 07 November 2018

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

scientific article published on 10 November 2015

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

scientific article published on 26 July 2019

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Characteristics of COVID-19 in Homeless Shelters : A Community-Based Surveillance Study

scientific article published on 15 September 2020

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

scientific article published on 16 November 2017

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

scientific article

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

scientific article published on 07 August 2019

Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans

scientific article published on 27 January 2020

Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin

scientific article

Comment on 'Discrepancies in dbSNP confirmations rates and allele frequency distributions from varying genotyping error rates and patterns'.

scientific article

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

scientific article

Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiov

scientific article

Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women

scientific article published on 08 February 2006

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

scientific article published on 28 March 2018

Comparable specimen collection from both ends of at-home mid-turbinate swabs

scientific article published on 08 December 2020

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

journal article published in 2014

Completing the map of human genetic variation

scientific article published on May 2007

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

scientific article published on 3 November 2004

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

scientific article

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

scientific article published on 01 September 2018

Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism

scientific article published on 5 August 2002

Copy number variation detection and genotyping from exome sequence data

scientific article

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

scientific article published in PLoS ONE

Cryptic transmission of SARS-CoV-2 in Washington State

scientific article published on 06 April 2020

Cryptic transmission of SARS-CoV-2 in Washington state

scientific article published on 10 September 2020

D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study

scientific article published on 14 September 2017

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

scientific article published on 17 August 2018

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

scientific article published on 7 November 2016

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

scientific article published on 21 January 2020

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

De novo rates and selection of large copy number variation

scientific article

Definition and clinical importance of haplotypes

scientific article

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

scientific article published on 07 December 2016

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

scientific article published on 26 September 2016

Differential effects of ramipril on ambulatory blood pressure in African Americans and Caucasians

scientific article published in August 2007

Direct detection of null alleles in SNP genotyping data

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

scientific article published on 24 November 2020

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

scientific article published on 26 May 2020

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

scientific article published on 3 November 2017

Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform

scientific article published on 01 May 2020

Effect of Sickle Cell Trait and <i>APOL1</i> Genotype on the Association of Soluble uPAR with Kidney Function Measures in Blacks

scientific article published on 02 December 2020

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose

scientific article

Effects of weather-related social distancing on city-scale transmission of respiratory viruses

scientific article (preprint)

Efficient selection of tagging single-nucleotide polymorphisms in multiple populations

scientific article published on 6 May 2006

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

scientific article published on 21 November 2017

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Estimating coverage and power for genetic association studies using near-complete variation data

scientific article

Evidence for Limited Early Spread of COVID-19 Within the United States, January-February 2020

scientific article published on 05 June 2020

Evidence for involvement of GNB1L in autism

scientific article

Evidence for substantial fine-scale variation in recombination rates across the human genome

scientific article published on 06 June 2004

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

scientific article

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

scientific article

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

scientific article

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

scientific article

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing identifies the cause of a mendelian disorder

scientific article

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

scientific article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis ⬇️

scientific article published on July 8, 2012

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

scientific article published on 21 July 2019

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

scientific article

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

scientific article

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

scientific article published on 25 October 2017

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

scientific article published on 23 December 2015

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

scientific article published on 26 February 2019

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

scientific article published on 05 November 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

scientific article

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

scientific article published on 17 January 2018

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

scientific article published on 13 December 2018

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

article

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

scientific article

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

scientific article published on 4 January 2018

Genetic ancestry in lung-function predictions

scientific article

Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study

scientific article published on 14 March 2007

Genetic and nongenetic sources of variation in phospholipid transfer protein activity

scientific article

Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication

scientific article published on October 2008

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey

scientific article

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

scientific article

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

scientific article

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

scientific article published on 03 December 2018

Genome-wide association of lipid-lowering response to statins in combined study populations

scientific article

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

scientific article

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

scientific article published on 29 June 2018

Genomic regions exhibiting positive selection identified from dense genotype data

scientific article

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations

scientific article

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

scientific article published in November 2017

High-throughput genotyping of intermediate-size structural variation

scientific article published on 23 February 2006

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

scientific journal article

Identification of ASAH1 as a susceptibility gene for familial keloids

scientific article published on 26 July 2017

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

scientific article published on 30 November 2018

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing

scientific article

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue

scientific article

Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects

scientific article published on 12 October 2020

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array

scientific article published on 7 July 2017

Insights into genetics, human biology and disease gleaned from family based genomic studies

scientific article published on 18 January 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Integrating host genomics with surveillance for invasive bacterial diseases

scientific article published on July 2008

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia

scientific article

LB21. The Seattle Flu Study: A Community-Based Study of Influenza

scientific article published on 23 October 2019

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

scientific article published on 12 January 2016

LPA and PLG sequence variation and kringle IV-2 copy number in two populations

scientific article

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

scientific article published in April 2018

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

scientific article

Linkage and association of phospholipid transfer protein activity to LASS4

scientific article

Linkage disequilibrium in wild mice

scientific article

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

scientific article published on 04 December 2018

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

MAT2A mutations predispose individuals to thoracic aortic aneurysms

scientific article

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

scientific article

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

scientific article

Mapping and sequencing of structural variation from eight human genomes

scientific article

Mapping complex disease loci in whole-genome association studies

scientific article published on May 2004

Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans

scientific article published on 23 September 2020

Massively parallel exon capture and library-free resequencing across 16 genomes

scientific article

Massively parallel sequencing and rare disease

scientific article

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

scientific article

Mendelian Gene Discovery: Fast and Furious with No End in Sight

scientific article published on 01 September 2019

Meta-analysis of genome-wide association studies of HDL cholesterol response to statins

scientific article

Methods for genomic partitioning

scientific article

Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants

scientific article published in January 2002

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

scientific article published on 16 February 2016

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

scientific article published on 17 August 2017

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Multi-omic studies on missense PLG variants in families with otitis media

scientific article published on 14 September 2020

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

Multiplexed Functional Assessment of Genetic Variants in CARD11

scientific article published on 12 November 2020

Mutation of ATF6 causes autosomal recessive achromatopsia

scientific article published on 11 June 2015

Mutational and selective effects on copy-number variants in the human genome

scientific article published on July 2007

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

scientific article published on 14 June 2017

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

scientific article published on 18 June 2019

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

scientific article published on 12 May 2020

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

scientific article published on 14 October 2020

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

scientific article published on 10 April 2017

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

scientific article

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

scientific article published on 16 July 2020

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

scientific article published on March 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

scientific article published on 10 March 2018

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

scientific article published on 16 April 2019

Novel KITLG/SCF Regulatory Variants Are Associated with Lung Function in African American Children with Asthma

scientific article published on 23 April 2020

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

scientific article published on 15 November 2012

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

scientific article

Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status ⬇️

scientific article published on May 1, 2003

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

scientific article published on 20 June 2014

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies ⬇️

scientific article published on August 2, 2012

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

scientific article published on 24 July 2020

PADRE: Pedigree-Aware Distant-Relationship Estimation

scientific article published on 29 June 2016

PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes

scientific article published on 29 October 2015

PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

scientific article

Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease

scientific article published on 12 June 2003

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

scientific article

Patient genotypes impact survival after surgery for isolated congenital heart disease

scientific article

Pattern of sequence variation across 213 environmental response genes

scientific article published on 13 September 2004

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

scientific article

Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study

scientific article published on 27 January 2006

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

scientific article

Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1).

scientific article

Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein

scientific article published on 24 April 2008

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation

scientific article

Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels

Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels

scientific article

Population analysis of large copy number variants and hotspots of human genetic disease

scientific article published on 22 January 2009

Population history and natural selection shape patterns of genetic variation in 132 genes

scientific article

Positioning a medical school for modern biomedical research: the department of genome sciences at the University of Washington School of Medicine

scientific article published on October 2006

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

scientific article published on 10 May 2018

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

scientific article published on 18 July 2020

Preliminary support for a “dry swab, extraction free” protocol for SARS-CoV-2 testing via RT-qPCR

scientific article published on 24 April 2020

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

scientific article published on 25 May 2017

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network ⬇️

scientific article published on 3 July 2015

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

scientific article

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

scientific article published on 2 October 2014

Race-Specific Influence of CYP4F2 on Dose and Risk of Hemorrhage Among Warfarin Users

scientific article published on 15 February 2016

Rare A2ML1 variants confer susceptibility to otitis media

scientific article

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

scientific article

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project

scientific article

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

scientific article published on 03 August 2020

Rare loss of function variants in candidate genes and risk of colorectal cancer

article

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

scientific article published on 13 January 2016

Rare variation facilitates inferences of fine-scale population structure in humans

scientific article

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

scientific article

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

Remote Household Observation for Non-influenza Respiratory Viral Illness

scientific article published on 17 November 2020

Response to Hall et al

scientific article published on 01 December 2020

Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy

scientific article

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

scientific article published on 26 February 2019

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features ⬇️

scientific article

Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus

scientific article published on 20 January 2006

Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample

scientific article published on 14 June 2002

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

scientific article published in December 2017

Sequence variation in the human T-cell receptor loci

scientific article

Sequence-based linkage analysis

scientific article

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

scientific article

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

scientific article

Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study

scientific article published on 5 June 2008

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia

scientific article published on 17 August 2016

Somatic mutations in cerebral cortical malformations

scientific article

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

scientific article

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

scientific article published on 8 September 2017

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

scientific article published on 07 September 2008

TCIRG1-associated congenital neutropenia

scientific article

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease

scientific article published on 11 February 2006

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects

scientific article published on 18 November 2006

Targeted capture and massively parallel sequencing of 12 human exomes

scientific article

Targeted enrichment of specific regions in the human genome by array hybridization

scientific article

Targeted interrogation of copy number variation using SCIMMkit

scientific article published on 21 October 2009

The All of Us Research Program: Data quality, utility, and diversity

scientific article published in 2022

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

scientific article published on 24 May 2012

The Seattle Flu Study: a multi-arm community-based prospective study protocol for assessing influenza prevalence, transmission, and genomic epidemiology

scientific article published on 07 March 2020

The Seattle Flu Study: a multiarm community-based prospective study protocol for assessing influenza prevalence, transmission and genomic epidemiology

scientific article published on 07 October 2020

The contribution of de novo coding mutations to autism spectrum disorder

scientific article

The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster

scientific article

The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies

scientific article published on 01 January 2008

The patterns of natural variation in human genes

scientific article published in January 2005

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

scientific article published on 02 September 2019

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis

scientific article

Tracing sub-structure in the European American population with PCA-informative markers

scientific article

Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

scientific article published on 12 October 2020

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

scientific article published on 11 April 2020

USF1 gene variants, cardiovascular risk, and mortality in European Americans: analysis of two US cohort studies

scientific article published on 20 September 2007

Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis

scientific article published on 19 September 2012

Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

scientific article published on 11 March 2020

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey

scientific article

Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment

scientific article published on 10 March 2008

Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

scientific article published on 30 September 2020

Whole Exome Sequencing in Atrial Fibrillation

scientific article

Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth

scientific article published on 27 May 2020

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease

scientific article published on 01 November 2018

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

scientific article published on 05 January 2021

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans

scientific article published on 01 February 2019

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

scientific article

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

scientific article

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

scientific article

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

scientific article

denovo-db: a compendium of human de novo variants.

scientific article published on 05 October 2016

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