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List of works by Richard A Gibbs

16S gut community of the Cameron County Hispanic Cohort

scientific article

28-way vertebrate alignment and conservation track in the UCSC Genome Browser

scientific article (publication date: December 2007)

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

scientific article published on 01 March 2019

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A SNP discovery method to assess variant allele probability from next-generation resequencing data

scientific article

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

scientific article published on 13 February 2018

A catalog of reference genomes from the human microbiome

scientific article

A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I)

scientific article

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A comprehensive transcriptional map of primate brain development.

scientific article published on 13 July 2016

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

scientific article published on 06 November 2019

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

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

scientific article

A high-resolution map of human evolutionary constraint using 29 mammals

scientific article

A hybrid computational strategy to address WGS variant analysis in >5000 samples

scientific article published on 10 September 2016

A map of human genome variation from population-scale sequencing ⬇️

scientific article published on October 28, 2010

A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae).

scientific article published on 31 January 2018

A model species for agricultural pest genomics: the genome of the Colorado potato beetle,Leptinotarsa decemlineata(Coleoptera: Chrysomelidae)

scholarly article published 22 September 2017

A new class of ghrelin O-acyltransferase inhibitors incorporating triazole-linked lipid mimetic groups

scientific article published on 15 May 2015

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

scientific article

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

A novel geranylgeranyl transferase inhibitor in combination with lovastatin inhibits proliferation and induces autophagy in STS-26T MPNST cells

scientific article

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

scientific article published on 17 September 2016

A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls

scientific article

A recurrent PDGFRB mutation causes familial infantile myofibromatosis

scientific article published on 23 May 2013

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

scientific article published in 2022

A role for caveolae/lipid rafts in the uptake and recycling of the endogenous cannabinoid anandamide.

scientific article published on 3 August 2004

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome

scientific article

A short enantioselective synthesis of (+)-sterpurene: complete intramolecular transfer of central to axial to central chiral elements

article

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

scientific article published on March 2016

ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

scientific article

AHDC1 missense mutations in Xia-Gibbs syndrome

scientific article published on 10 August 2021

ARBoR: an identity and security solution for clinical reporting

scientific article published on 01 November 2019

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC.

scientific article published in July 2014

Abstract 1114: Polymerase epsilon (POLE) mutations and mutator phenotypes in colorectal and endometrial tumors.

scientific article published on 14 August 2014

Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study

scientific article published in 2014

Accurate identification of novel human genes through simultaneous gene prediction in human, mouse, and rat.

scientific article published on April 2004

Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase

scientific article

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

scientific article

Amide-modified prenylcysteine based Icmt inhibitors: Structure-activity relationships, kinetic analysis and cellular characterization

scientific article

Amide-substituted farnesylcysteine analogs as inhibitors of human isoprenylcysteine carboxyl methyltransferase

scientific article published on 13 June 2006

Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation.

scientific article published on 19 January 2016

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

scientific article published on March 2017

An integrated map of genetic variation from 1,092 human genomes

scientific article

An integrated map of structural variation in 2,504 human genomes

scientific article

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data

scientific article

An integrative variant analysis suite for whole exome next-generation sequencing data ⬇️

scientific article published on January 12, 2012

An open access pilot freely sharing cancer genomic data from participants in Texas

scientific article

Analogs of farnesyl diphosphate alter CaaX substrate specificity and reactions rates of protein farnesyltransferase

scientific article published on 22 December 2015

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

scientific article

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

scientific article published in June 2007

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

scientific article published in October 2017

Analysis of Microsatellite Variation in Drosophila melanogaster with Population-Scale Genome Sequencing ⬇️

scientific article published on March 12, 2012

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

scientific article published on 27 April 2015

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

Analysis of somatic retrotransposition in human cancers.

scientific article

Analysis of transcriptome data in the red flour beetle, Tribolium castaneum

scientific article

Antihypertensive medication adherence in chronic type B aortic dissection is an important consideration in the management debate

scientific article published on 31 March 2018

Aortic dissection

scientific article published on 21 July 2016

Aromatic farnesyl diphosphate analogues: vinyl triflate-mediated synthesis and preliminary enzymatic evaluation

scientific article

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

scientific article

Assessing structural variation in a personal genome-towards a human reference diploid genome.

scientific article published on 11 April 2015

Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival ⬇️

scientific article published on January 10, 2011

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases

scientific article published on 21 April 2022

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease

scientific article published on 8 January 2015

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

scientific article

Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

scientific article (publication date: June 2014)

Association of the IGF1 gene with fasting insulin levels

scientific article published on 10 February 2016

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium

scientific article

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

scientific article published on 20 March 2019

Author Correction: Comparative and demographic analysis of orang-utan genomes

correction of a scholarly article

Author Correction: High-depth African genomes inform human migration and health

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

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

scientific article

Basic principles and technologies for deciphering the genetic map of cancer.

scientific article

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

scientific article published on 31 August 2016

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

scientific article published on 26 April 2021

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

scientific article published on 04 October 2020

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

scientific article

Bioactivity and Bioavailability of Ginsenosides are Dependent on the Glycosidase Activities of the A/J Mouse Intestinal Microbiome Defined by Pyrosequencing ⬇️

scientific article published on December 20, 2012

Bos taurus genome assembly

scientific article

Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest

scientific article published on 14 March 2020

Building a Comprehensive Genomic Program for Hepatocellular Carcinoma ⬇️

scientific article published on August 1, 2011

Butterfly genome reveals promiscuous exchange of mimicry adaptations among species ⬇️

scientific article (publication date: 16 May 2012)

CGAP-Align: A High Performance DNA Short Read Alignment Tool ⬇️

scientific article published on April 11, 2013

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

scientific article published on 24 June 2020

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

scientific article published on 20 April 2015

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

scientific article published on 26 August 2021

Candidate Loci Associated with AIDS Virus Replication Identified by Whole Genome Sequencing of SIV-Infected Macaques

Centers for Mendelian Genomics: A decade of facilitating gene discovery

scientific article published on 09 February 2022

Cerebral embolic protection in thoracic endovascular aortic repair

scientific article published on 24 May 2018

Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)

scientific article

Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms ⬇️

scientific article published on February 29, 2012

Characterizing the cancer genome in lung adenocarcinoma

scientific article

Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer.

scientific article published on 11 April 2018

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

scientific article

Clan genomics and the complex architecture of human disease

scientific article published on September 2011

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

scientific article published on 28 September 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

scientific article

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol)

scientific article published on 01 February 2020

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

scientific article published on 01 February 2020

Combinatorial modulation of protein prenylation

scientific article

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats ⬇️

scientific article published on May 26, 2013

Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction

scientific article published on 01 May 2018

Common and rare variants of DAOA in bipolar disorder

scientific article published on October 2009

Community annotation: procedures, protocols, and supporting tools.

scientific article published on 25 October 2006

Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

scientific article published on 07 August 2020

Comparative and demographic analysis of orang-utan genomes

scientific article

Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution

scientific article

Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential

scientific article

Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum.

scientific article published on 18 May 2018

Comparative primate genomics: emerging patterns of genome content and dynamics

scientific article

Comparative validation of the D. melanogaster modENCODE transcriptome annotation.

scientific article

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

scientific article

Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A ⬇️

scientific article (publication date: 11 April 2013)

Complete Genome Sequence of Rickettsia typhi and Comparison with Sequences of Other Rickettsiae

scientific article

Complete Khoisan and Bantu genomes from southern Africa

scientific article

Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes

scientific article

Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay

scientific article (publication date: 2011)

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

scientific article

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

article

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma

scientific article published on 4 November 2015

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

Computational and conformational evaluation of FTase alternative substrates: insight into a novel enzyme binding pocket

scientific article published in July 2005

Concatenation cDNA sequencing for transcriptome analysis

scientific article published on 01 October 2003

Context-dependent substrate recognition by protein farnesyltransferase.

scientific article published on March 2009

Convergent evolution of the genomes of marine mammals

scientific article published on 26 January 2015

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion ⬇️

scientific article published on November 7, 2011

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

scientific article published on 26 November 2016

Coronary heart disease and genetic variants with low phospholipase A2 activity

scientific article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction to: Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects

scientific article published in 2021

Correction to: Genome-enabled insights into the biology of thrips as crop pests

scientific article published on 16 November 2020

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours

scientific article published on 27 September 2017

Coupling of isoprenoid triflates with organoboron nucleophiles: synthesis and biological evaluation of geranylgeranyl diphosphate analogues

scientific article published in May 2002

Creating a data resource: what will it take to build a medical information commons?

scientific article published on 22 September 2017

Cultivating DNA Sequencing Technology After the Human Genome Project

scientific article published on 13 April 2020

Cuprate-Mediated Synthesis and Biological Evaluation of Cyclopropyl- and tert-Butylfarnesyl Diphosphate Analogs ⬇️

scientific article published on November 15, 1996

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression

article

DNAism: exploring genomic datasets on the web with Horizon Charts

scientific article published on 27 January 2016

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

scientific article published on 24 February 2016

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

scientific article published on 28 February 2019

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

scientific article

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

scientific article

Decoding a national treasure

scientific article published in Nature

Deep Sequencing of Random Mutant Libraries Reveals the Active Site of the Narrow Specificity CphA Metallo-β-Lactamase is Fragile to Mutations.

scientific article

Deep Sequencing of Systematic Combinatorial Libraries Reveals β-Lactamase Sequence Constraints at High Resolution ⬇️

scientific article published on September 25, 2012

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

scientific article published on 30 November 2010

Deeper into the genome

scientific article published in Nature

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020

Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques

scientific article

Demographic history and rare allele sharing among human populations

scientific article

Detection of nonsterol isoprenoids by HPLC-MS/MS.

scientific article published on 30 August 2008

Developing a tissue resource to characterize the genome of pancreatic cancer

scientific article

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

scientific article

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

scientific article published on 28 January 2016

Direct selection of human genomic loci by microarray hybridization

scientific article

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

scientific article published on 02 June 2020

Disruptive TP53 Mutation Is Associated with Aggressive Disease Characteristics in an Orthotopic Murine Model of Oral Tongue Cancer ⬇️

scientific article published on September 8, 2011

Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects

scientific article published on 09 January 2019

Do echinoderm genomes measure up?

scientific article

Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35

scientific article

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

scientific article published on 20 June 2017

Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund.

scientific article published in June 2005

Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project

scientific article published on April 2004

Dynamics of genome evolution in facultative symbionts of aphids ⬇️

scientific article published on October 16, 2009

Early childhood presentation of Czech dysplasia

scientific article published on April 2013

Editorial (An Idea Whose Time Has Come? An African Foresight Observatory on Genomics Medicine and Data-Intensive Global Science)

Effects of TP53 mutational status on gene expression patterns across 10 human cancer types.

scientific article

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example

scientific article published on 01 October 2018

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

scientific article published on 12 May 2016

Epistasis dominates the genetic architecture of Drosophila quantitative traits

scientific article

Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. ⬇️

scientific article published on 18 January 2017

Erratum: A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published in Nature

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evaluation of Isoprenoid Conformation in Solution and in the Active Site of Protein-Farnesyl Transferase Using Carbon-13 Labeling in Conjunction with Solution- and Solid-State NMR

scientific article published in 2000

Evaluation of computational genotyping of structural variation for clinical diagnoses

scientific article published on 01 September 2019

Evaluation of protein farnesyltransferase substrate specificity using synthetic peptide libraries

scientific article

Evaluation of substrate and inhibitor binding to yeast and human isoprenylcysteine carboxyl methyltransferases (Icmts) using biotinylated benzophenone-containing photoaffinity probes.

scientific article published on 23 May 2012

Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children

scientific article published on 4 November 2009

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

scientific article

Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda.

scientific article published on 29 April 2017

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Exome Sequencing: Applications From the Lab Bench to the Clinic

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

scientific article published on December 30, 2011

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1) ⬇️

scientific article published on June 16, 2013

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

scientific article

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis

scientific article

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

scientific article

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

scientific article published on 23 August 2019

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

article

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

scientific article (publication date: 26 August 2011)

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

scientific article

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

scientific article published on 27 June 2013

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

scientific article published on 17 April 2015

Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children

scientific article published on 16 May 2017

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

scientific article

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

scientific article

Exploration of GGTase-I substrate requirements. Part 1: Synthesis and biochemical evaluation of novel aryl-modified geranylgeranyl diphosphate analogs

scientific article

Exploration of GGTase-I substrate requirements. Part 2: Synthesis and biochemical analysis of novel saturated geranylgeranyl diphosphate analogs

scientific article

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness ⬇️

scientific article published on September 11, 2012

Extremely low-coverage whole genome sequencing in South Asians captures population genomics information

scientific article

FBN1 contributing to familial congenital diaphragmatic hernia.

scientific article published on 3 March 2015

Finding the missing honey bee genes: lessons learned from a genome upgrade

scientific article

Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence

scientific article

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing

scientific article published on 25 December 2011

Functional and evolutionary insights from the genomes of three parasitoid Nasonia species

scientific article

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample

scientific article published on 01 April 2019

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

scientific article published on 19 May 2020

GE-06IDENTIFICATION OF TARGETABLE MUTATIONS IN RARE PEDIATRIC BRAIN TUMORS BY CLINICAL WHOLE EXOME SEQUENCING.

scientific article published on 21 April 2015

Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome.

scientific article

Gene content evolution in the arthropods

scientific article published on 23 January 2020

Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis.

scientific article

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

scientific article

Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes

scientific article

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

scientific article

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

scientific article published on November 2015

Genetic Alterations Associated With Progression From Pancreatic Intraepithelial Neoplasia to Invasive Pancreatic Tumor ⬇️

scientific article published on August 2, 2013

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

scientific article published on 22 January 2020

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

scientific article published on 9 April 2018

Genetic and molecular alterations in pancreatic cancer: implications for personalized medicine

scientific article

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

Genetic diversity in India and the inference of Eurasian population expansion ⬇️

scientific article published on November 24, 2010

Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004.

scientific article published in July 2005

Genetics of schizophrenia in the South African Xhosa

scientific article published on 31 January 2020

Genetics. No longer de-identified

scientific article

Genetics. The critical region in trisomy 21

scientific article published on 01 October 2004

Genome Sequencing of the Phytoseiid Predatory Mite Metaseiulus occidentalis Reveals Completely Atomized Hox Genes and Superdynamic Intron Evolution

scientific article

Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface ⬇️

scientific article (publication date: 11 November 2016)

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

scientific article

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genome-culture coevolution promotes rapid divergence of killer whale ecotypes

scientific article

Genome-enabled insights into the biology of thrips as crop pests

scientific article published on 19 October 2020

Genome-sequencing anniversary. Bringing genomics and genetics back together

scientific article published on 01 February 2011

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide linkage disequilibrium and haplotype maps

scientific article published in January 2004

Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds

scientific article

Genomic analyses identify molecular subtypes of pancreatic cancer

scientific article published on 24 February 2016

Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome

scientific article

Genomic encyclopedia of bacteria and archaea: sequencing a myriad of type strains

scientific article published in August 2014

Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes

scientific article published on 9 November 2015

Genomic segmental polymorphisms in inbred mouse strains

scientific article published on 22 August 2004

Genomic signatures of cooperation and conflict in the social amoeba.

scientific article

Genomics: Gorilla gorilla gorilla

scientific article published on 7 March 2012

Geranylgeranyl switching regulates GDI-Rab GTPase recycling

scientific article (publication date: March 2003)

Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group

scientific article published on 29 December 2020

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

scientific article published on 13 March 2017

Germline mutations in shelterin complex genes are associated with familial glioma

scientific article

Gibbon genome and the fast karyotype evolution of small apes

scientific article

Glass bead purification of plasmid template DNA for high throughput sequencing of mammalian genomes

scientific article

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Harmonizing Clinical Sequencing And Interpretation For The eMERGE III Network

Hemichordate genomes and deuterostome origins

scientific article

Hemimetabolous genomes reveal molecular basis of termite eusociality

scientific article published on 05 February 2018

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

scientific article

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

scientific article published on 25 June 2017

High-depth African genomes inform human migration and health

scientific article published on 28 October 2020

High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies

scientific article

High-throughput multiplex sequencing to discover copy number variants in Drosophila

scientific article published on 15 June 2009

Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay

scientific article

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

scientific article published on 16 March 2015

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

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Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Human genetics. Primate shadow play

scientific article published on 01 February 2003

Human genome sequencing in health and disease

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Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

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Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus).

scientific article published on 16 November 2017

ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

scientific article published on 21 March 2019

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing ⬇️

scientific article published on December 19, 2012

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes

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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel ⬇️

scientific article published on January 1, 2011

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

scientific article published on 26 July 2018

Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia.

scientific article

Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing

scientific article published on April 2004

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.

scientific article published on 8 January 2015

Imaging in the position that causes pain

scientific article published on 17 August 2007

Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study

scientific article published in 2022

Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques

scientific article published on 25 March 2017

Inactivating mutations in NPC1L1 and protection from coronary heart disease

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Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin

scientific article

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Initial sequencing and comparative analysis of the mouse genome

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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

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Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma

scientific article (publication date: 2012)

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers

scientific article published on 25 April 2013

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Interplay of isoprenoid and peptide substrate specificity in protein farnesyltransferase.

scientific article published in August 2005

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

scientific article

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

scientific article published on 22 December 2016

Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum

scientific article published on 04 February 2014

Landscape of somatic retrotransposition in human cancers

scientific article (publication date: 24 August 2012)

Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF.

scientific article published on 8 July 2008

Large-scale RT-PCR recovery of full-length cDNA clones

scientific article published on April 2004

Large-scale concatenation cDNA sequencing

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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

scientific article published on 29 January 2014

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome

scientific article published on 17 April 2019

Lipid and sulfur substituted prenylcysteine analogs as human Icmt inhibitors ⬇️

scientific article published on June 21, 2011

Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC).

scientific article published on 14 November 2017

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

scientific article published on 06 March 2017

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction

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Loss of the polyketide synthase StlB results in stalk cell overproduction in Polysphondylium violaceum

scientific article published on 09 May 2020

Loss-of-function variants influence the human serum metabolome

scientific article published on 31 August 2016

Low frequency of MLL3 mutations in colorectal carcinoma

scientific article published on March 2009

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

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Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions.

scientific article published on 25 June 2015

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

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MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques

scientific article published on 28 February 2018

MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

scientific article published on January 2013

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

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Meeting the growing demands of genetic research

scientific article published on 01 January 2006

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

scientific article published on 28 February 2019

Metagenomic pyrosequencing and microbial identification

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Microarray analysis of somatostatin receptor 5-regulated gene expression profiles in murine pancreas.

scientific article published in April 2009

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

scientific article published on 21 October 2013

Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology

scientific article published on 21 November 2012

Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications

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Modified use of thoracic and iliac branch endografts to treat an abdominal aortic aneurysm with an unusually narrow neck

scientific article published on 05 May 2016

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

scientific article published on 11 January 2016

Molecular evidence of HIV-1 transmission in a criminal case

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Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome

Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome

scientific article published on 02 April 2019

Molecular findings among patients referred for clinical whole-exome sequencing

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Molecular targets for emerging anti-tumor therapies for neurofibromatosis type 1.

scientific article published on 28 April 2006

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

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Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes

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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

scientific article published on 16 December 2015

Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma

scientific article published on 2 March 2016

Multiple Respiratory Syncytial Virus (RSV) Strains Infecting HEp-2 and A549 Cells Reveal Cell Line-Dependent Differences in Resistance to RSV Infection

scientific article published on 14 March 2022

Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5)

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Mutation survey of known LCA genes and loci in the Saudi Arabian population

scientific article published on 20 October 2008

Mutational landscape of aggressive cutaneous squamous cell carcinoma

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

scientific journal article

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

scientific article published on 9 January 2018

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

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Mutations in SERPINF1 cause osteogenesis imperfecta type VI

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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

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NF-κB and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells

scientific article published on 07 October 2020

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

scientific article published on 26 October 2020

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 2014

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy

scientific article published on 16 August 2017

Neutral genomic regions refine models of recent rapid human population growth

scientific article published on 30 December 2013

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

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New synthetic methodology for the construction of 7-substituted farnesyl diphosphate analogs

scientific article published on 23 June 2011

Next-generation sequencing identifies rare variants associated with Noonan syndrome

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No bull: upholding community standards in public sharing of biological datasets.

scientific article published on 30 October 2013

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population ⬇️

scientific article published on December 14, 2012

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

scientific article published in August 2017

Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells

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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Novel somatic and germline mutations in intracranial germ cell tumours.

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Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

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Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals

scientific article published on 11 December 2020

Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

scientific article published on 27 July 2020

Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

scientific article published on 25 August 2021

Open access data sharing in genomic research

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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

scientific article

Overview of the Molecular Surgeon Symposium on Personalized Genomic Medicine and Surgery

scientific article published on 01 April 2009

Overview of the development of personalized genomic medicine and surgery

scientific article published on August 2011

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

scientific article published on 19 November 2020

PDX-1 Is a Therapeutic Target for Pancreatic Cancer, Insulinoma and Islet Neoplasia Using a Novel RNA Interference Platform ⬇️

scientific article published on August 8, 2012

PDX-1 acts as a potential molecular target for treatment of human pancreatic cancer

scientific article

PDX-1: demonstration of oncogenic properties in pancreatic cancer ⬇️

scientific article published on September 30, 2010

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

scientific article published on 09 April 2016

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

scientific article

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

scientific article

Parallel histories of horizontal gene transfer facilitated extreme reduction of endosymbiont genomes in sap-feeding insects

scientific article published on 06 January 2014

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Parliament2: Accurate structural variant calling at scale

scientific article published on 01 December 2020

Patterns and rates of exonic de novo mutations in autism spectrum disorders

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Pericyclic prenylation: peptide modification through a Claisen rearrangement

scientific article published on 24 November 2011

Personalized copy number and segmental duplication maps using next-generation sequencing.

scientific article

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

scientific article published on 22 February 2016

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing

scientific article published on 26 June 2019

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

scientific article published on 29 July 2015

Phenotypic expansion illuminates multilocus pathogenic variation.

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

scientific article

Phylogenomic analysis reveals bees and wasps (Hymenoptera) at the base of the radiation of Holometabolous insects

scientific article (publication date: November 2006)

Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.

scientific article published on 4 December 2017

Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series

scientific article

Pooled genomic indexing of rhesus macaque

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

scientific article

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene

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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

scientific article published on 19 July 2016

Potent suppression of proliferation of a10 vascular smooth muscle cells by combined treatment with lovastatin and 3-allylfarnesol, an inhibitor of protein farnesyltransferase

scientific article published on October 2002

Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits

scientific article published on 5 January 2017

Prevalence of spinocerebellar ataxia 36 in a US population

scientific article published on 18 July 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression

scientific article published on 03 December 2020

Probing the isoprenylcysteine carboxyl methyltransferase (Icmt) binding pocket: Sulfonamide modified farnesyl cysteine (SMFC) analogs as Icmt inhibitors ⬇️

scientific article published on January 22, 2011

Problems and Solutions

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Prospective virome analyses in young children at increased genetic risk for type 1 diabetes

scientific article published on 02 December 2019

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

scientific article published on 27 October 2008

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

scientific article published on 24 November 2021

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

scientific article published on 18 February 2021

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

scientific article published in July 2017

Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing

scientific article

Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk

scientific article published on 11 December 2015

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

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Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Reconstructing sex chromosome evolution.

scientific article published on 11 October 2010

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

scientific article published on 17 April 2014

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

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Recurrent duplication-driven transposition of DNA during hominoid evolution

scholarly article

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

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Repeat upright positional magnetic resonance imaging for diagnosis of disorders underlying chronic noncancer lumbar pain

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Reply to Seligman

scientific article published in 2006

Reproductive Longevity Predicts Mutation Rates in Primates

scientific article published on 27 September 2018

Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children

scientific article

Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

Role of somatic mutations in vascular disease formation

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S-Farnesyl-Thiopropionic Acid Triazoles as Potent Inhibitors of Isoprenylcysteine Carboxyl Methyltransferase ⬇️

scientific article published on November 28, 2011

SNPdetector: a software tool for sensitive and accurate SNP detection

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SSTR5 P335L monoclonal antibody differentiates pancreatic neuroendocrine neuroplasms with different SSTR5 genotypes ⬇️

scientific article published on December 1, 2011

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

scientific article published on 18 June 2016

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

scientific article published on 3 October 2017

SYT1-associated neurodevelopmental disorder: a case series

scientific article published on 01 September 2018

Sawfly genomes reveal evolutionary acquisitions that fostered the mega-radiation of parasitoid and eusocial Hymenoptera ⬇️

scientific article published on 22 May 2020

Secondary findings and carrier test frequencies in a large multiethnic sample

scientific article published on 13 June 2015

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

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Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages

scientific article published on 18 November 2020

Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study

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Sequence and analysis of chromosome 2 of Dictyostelium discoideum

scientific article published in Nature

Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium.

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Sequence variation in DOCK9 and heterogeneity in bipolar disorder.

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Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study

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Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

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

scientific article published on 6 March 2019

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

scientific article published in February 2021

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

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Sequencing the full-length of the phosphatase and tensin homolog (PTEN) gene in hepatocellular carcinoma (HCC) using the 454 GS20 and Illumina GA DNA sequencing platforms

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Shedding genomic light on Aristotle's lantern

scientific article published on 10 October 2006

Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds

scientific article published on 28 February 2018

Short- and Long-term Results of Hybrid Arch and Proximal Descending Thoracic Aortic Repair: A Benchmark for New Technologies

scientific article published on 19 June 2016

Short-term and Midterm Results of Fenestrated Anaconda Endograft in Patients with Previous Endovascular Aneurysm Repair

scientific article published on 01 April 2019

Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma

scientific article published on August 2009

Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency

scientific article published on July 2009

Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection

scientific article

Solid-phase synthesis of prenylcysteine analogs

scientific article published on April 2009

Somatic mutations affect key pathways in lung adenocarcinoma

scientific article

Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host

scientific article published in January 2018

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

scientific article

Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers.

scientific article

Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes

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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

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Structure and function of the healthy pre-adolescent pediatric gut microbiome

scientific article published on 26 August 2015

Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition.

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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

scientific article published on 21 May 2018

Synthesis and biochemical evaluation of 3,7-disubstituted farnesyl diphosphate analogues.

scientific article published on 29 January 2008

Synthesis and evaluation of 3- and 7-substituted geranylgeranyl pyrophosphate analogs

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Synthesis and screening of a CaaL peptide library versus FTase reveals a surprising number of substrates

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Synthesis of 7-substituted farnesyl diphosphate analogues

scientific article published on 01 September 2002

Synthesis of Non-natural, Frame-Shifted Isoprenoid Diphosphate Analogues

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Synthesis of desthio prenylcysteine analogs: sulfur is important for biological activity

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Synthesis of frame-shifted farnesyl diphosphate analogs

scientific article published on 02 August 2012

Synthesis, biochemical, and cellular evaluation of farnesyl monophosphate prodrugs as farnesyltransferase inhibitors

scientific article published on 8 June 2007

TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

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Taking DNA from the dead

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities ⬇️

scientific article published on July 25, 2011

Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

scientific article (publication date: March 2014)

Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium

scientific article

Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study

scientific article published on 11 September 2016

Temporal development of the gut microbiome in early childhood from the TEDDY study

scientific article published in Nature

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

scientific article published in 2022

The Atlas genome assembly system

scientific article published in April 2004

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

scientific article published in April 2018

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

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 DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The DNA sequence, annotation and analysis of human chromosome 3

scientific article (publication date: 27 April 2006)

The Drosophila melanogaster Genetic Reference Panel

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The Drosophila melanogaster transcriptome by paired-end RNA sequencing

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The Earth BioGenome Project 2020: Starting the clock

scientific article published on 25 January 2022

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

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The Genomic Basis of Arthropod Diversity

article published in 2018

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The Human Genome Project changed everything

scientific article published on 07 August 2020

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

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The Matchmaker Exchange: a platform for rare disease gene discovery

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The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia

scientific article published on 28 March 2018

The Somatic Genomic Landscape of Glioblastoma

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The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary Toxicology

scientific article published on 10 April 2018

The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level

scientific article published on 01 August 2002

The cloning, genomic organization and tissue expression profile of the human DLG5 gene

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The cloning, genomic organization and tissue expression profile of the human DLG5 gene: Correction

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The comparative genomics and complex population history of baboons

scientific article published on 30 January 2019

The complete genome of an individual by massively parallel DNA sequencing

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The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse

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The completion of the Mammalian Gene Collection (MGC).

scientific article published on 18 September 2009

The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes

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The ethics of conducting molecular autopsies in cases of sudden death in the young

scientific article published on 13 July 2016

The finished DNA sequence of human chromosome 12

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The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima ⬇️

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The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The genetic basis of DOORS syndrome: an exome-sequencing study

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The genome of Apis mellifera: dialog between linkage mapping and sequence assembly.

scientific article published on January 2007

The genome of the model beetle and pest Tribolium castaneum

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The genome of the sea urchin Strongylocentrotus purpuratus

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The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

article published in 2018

The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

scientific article published on 21 November 2018

The genome sequence of taurine cattle: a window to ruminant biology and evolution

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The genomes of two key bumblebee species with primitive eusocial organization ⬇️

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The gut mycobiome of the Human Microbiome Project healthy cohort.

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The house spider genome reveals an ancient whole-genome duplication during arachnid evolution

scientific article published on 31 July 2017

The house spider genome reveals an ancient whole-genome duplication during arachnid evolution

scholarly article published 8 February 2017

The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function

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The isoprenoid substrate specificity of isoprenylcysteine carboxylmethyltransferase: development of novel inhibitors

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The phenotypic spectrum of Xia-Gibbs syndrome

scientific article published on 25 April 2018

The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences

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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

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The sheep genome illuminates biology of the rumen and lipid metabolism

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The somatic genomic landscape of chromophobe renal cell carcinoma

scientific article (publication date: 8 September 2014)

The somatic genomic landscape of glioblastoma

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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)

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The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders

scientific article published on 13 December 2018

The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species ⬇️

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The “Minimum Information about an ENvironmental Sequence” (MIENS) specification

The “Minimum Information about an ENvironmental Sequence” (MIENS) specification

Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

scientific article

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

scientific article

Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby.

scientific article published on 19 August 2011

Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections

scientific article

Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections

scientific article

Trp modification signals a quorum

scientific article published in June 2005

Truvari: refined structural variant comparison preserves allelic diversity

scientific article published in 2022

Two male sibs with severe micrognathia and a missense variant in MED12.

scientific article published on 7 June 2016

Two-stage genome-wide association study identifies integrin beta 5 as having potential role in bull fertility

scientific article

Unique features of a global human ectoparasite identified through sequencing of the bed bug genome ⬇️

scientific article published on 2 February 2016

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

Using Whole-Genome Sequence Data to Predict Quantitative Trait Phenotypes in Drosophila melanogaster ⬇️

scientific article published on May 3, 2012

Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia

scientific article

WGSA: an annotation pipeline for human genome sequencing studies.

scientific article published on 22 September 2015

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

scientific article published on May 2013

Wearable Sensor Technology Efficacy in Peripheral Vascular Disease (wSTEP): A Randomized Controlled Trial

scientific article

What everybody should know about the rat genome and its online resources

scientific article (publication date: May 2008)

What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

scientific article

Whole Exome Sequencing in Atrial Fibrillation

scientific article

Whole exome capture in solution with 3 Gbp of data

scientific article

Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia

scientific article

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

scientific article

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

article

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

scientific article published on 31 October 2017

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

scientific article published on 04 October 2019

Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation

scientific article published on 16 March 2017

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.

scientific article

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequence analysis of serum amino acid levels

scientific article

Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence

scientific article

Whole genome sequencing of SIV-infected macaques identifies candidate loci that may contribute to host control of virus replication

scientific article

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

scientific article

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

article

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI

Whole-Exome Sequencing in Familial Parkinson Disease

scientific article published on 23 November 2015

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

scientific article published on 23 September 2011

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

scientific article

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

scientific article published on 8 August 2012

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

scientific article published on 5 May 2015

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

scientific article

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

scientific article

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

scientific article

Whole-genome landscape of pancreatic neuroendocrine tumours.

scientific article published on 15 February 2017

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol ⬇️

scientific article (publication date: August 2013)

Whole-genome sequencing for optimized patient management

scientific article published in June 2011

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

scientific article

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study

scientific article published on September 2017

Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria ⬇️

scientific article published on August 10, 2011

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Working together: Farnesyl transferase inhibitors and statins block protein prenylation

scientific article published on January 2009

X-cess of variants in XLMR.

scientific article published in May 2009

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

scientific article published on 03 June 2019

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

scientific article published on 25 April 2013

xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experiments

scientific article

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