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16S gut community of the Cameron County Hispanic Cohort

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

A catalog of reference genomes from the human microbiome

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

A comprehensive transcriptional map of primate brain development.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado el 28 de octubre de 2010

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

A recurrent PDGFRB mutation causes familial infantile myofibromatosis

artículo científico publicado en 2013

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

artículo científico publicado en 2022

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

artículo científico publicado en 2004

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado el 12 de enero de 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado el 12 de marzo de 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Analysis of somatic retrotransposition in human cancers.

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Aortic dissection

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado el 10 de enero de 2011

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

artículo científico publicado en 2016

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Association of the IGF1 gene with fasting insulin levels

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2016

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

artículo científico publicado el 20 de diciembre de 2012

Bos taurus genome assembly

artículo científico publicado en 2009

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 ⬇️

artículo científico publicado el 1 de agosto de 2011

Butterfly genome reveals promiscuous exchange of mimicry adaptations among species ⬇️

artículo científico publicado el 5 de julio de 2012

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

artículo científico publicado el 11 de abril de 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2022

Cerebral embolic protection in thoracic endovascular aortic repair

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado el 29 de febrero de 2012

Characterizing the cancer genome in lung adenocarcinoma

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2021

Clan genomics and the complex architecture of human disease

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

Combinatorial modulation of protein prenylation

artículo científico publicado en 2007

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

artículo científico publicado el 26 de mayo de 2013

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

artículo científico publicado en 2018

Common and rare variants of DAOA in bipolar disorder

artículo científico publicado en 2009

Community annotation: procedures, protocols, and supporting tools.

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Comparative and demographic analysis of orang-utan genomes

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Comparative primate genomics: emerging patterns of genome content and dynamics

artículo científico publicado en 2014

Comparative validation of the D. melanogaster modENCODE transcriptome annotation.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A ⬇️

artículo científico publicado el 11 de abril de 2013

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

artículo científico publicado en 2004

Complete Khoisan and Bantu genomes from southern Africa

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma

artículo científico publicado en 2015

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

artículo científico publicado en 2018

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

artículo científico publicado en 2005

Concatenation cDNA sequencing for transcriptome analysis

scientific article published on 01 October 2003

Context-dependent substrate recognition by protein farnesyltransferase.

artículo científico publicado en 2009

Convergent evolution of the genomes of marine mammals

artículo científico publicado en 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 ⬇️

artículo científico publicado el 7 de noviembre de 2011

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

artículo científico publicado en 2016

Coronary heart disease and genetic variants with low phospholipase A2 activity

artículo científico publicado en 2015

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

artículo científico publicado en 2021

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours

artículo científico publicado en 2017

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Cultivating DNA Sequencing Technology After the Human Genome Project

artículo científico publicado en 2020

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

artículo científico publicado el 15 de noviembre de 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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Decoding a national treasure

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado el 25 de septiembre de 2012

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

artículo científico publicado en 2010

Deeper into the genome

scientific article published in Nature

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

artículo científico publicado en 2020

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

artículo científico publicado en 2007

Demographic history and rare allele sharing among human populations

artículo científico publicado en 2011

Detection of nonsterol isoprenoids by HPLC-MS/MS.

artículo científico publicado en 2008

Developing a tissue resource to characterize the genome of pancreatic cancer

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Direct selection of human genomic loci by microarray hybridization

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado el 8 de septiembre de 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?

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 16 de octubre de 2009

Early childhood presentation of Czech dysplasia

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Epistasis dominates the genetic architecture of Drosophila quantitative traits

artículo científico publicado en 2012

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. ⬇️

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Exome Sequencing: Applications From the Lab Bench to the Clinic

Exome capture sequencing identifies a novel mutation in BBS4 ⬇️

artículo científico publicado el 30 de diciembre de 2011

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

artículo científico publicado el 16 de junio de 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado el 11 de septiembre de 2012

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

artículo científico publicado en 2017

FBN1 contributing to familial congenital diaphragmatic hernia.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome.

artículo científico publicado en 2011

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado el 2 de agosto de 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

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

artículo científico publicado el 24 de noviembre de 2010

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

artículo científico publicado en 2005

Genetics of schizophrenia in the South African Xhosa

artículo científico publicado en 2020

Genetics. No longer de-identified

artículo científico publicado en 2006

Genetics. The critical region in trisomy 21

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Genome-culture coevolution promotes rapid divergence of killer whale ecotypes

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Genome-sequencing anniversary. Bringing genomics and genetics back together

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Genome-wide linkage disequilibrium and haplotype maps

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Genomic analyses identify molecular subtypes of pancreatic cancer

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Genomics: Gorilla gorilla gorilla

artículo científico publicado en 2012

Geranylgeranyl switching regulates GDI-Rab GTPase recycling

artículo científico publicado en 2003

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Germline mutations in shelterin complex genes are associated with familial glioma

artículo científico publicado en 2015

Gibbon genome and the fast karyotype evolution of small apes

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Hemimetabolous genomes reveal molecular basis of termite eusociality

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

High-depth African genomes inform human migration and health

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

scientific article published on 31 August 2020

Human genetics. Primate shadow play

artículo científico publicado en 2003

Human genome sequencing in health and disease

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado el 19 de diciembre de 2012

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

artículo científico publicado en 2016

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

article

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de enero de 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

article

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

artículo científico publicado en 2015

Imaging in the position that causes pain

artículo científico publicado en 2007

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Initial sequencing and analysis of the human genome

artículo científico publicado en 2001

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

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

artículo científico publicado en 2019

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

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Integrating common and rare genetic variation in diverse human populations

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Interplay of isoprenoid and peptide substrate specificity in protein farnesyltransferase.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Landscape of somatic retrotransposition in human cancers

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

Large-scale concatenation cDNA sequencing

artículo científico publicado en 1997

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

artículo científico publicado en 2014

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Lipid and sulfur substituted prenylcysteine analogs as human Icmt inhibitors ⬇️

artículo científico publicado el 21 de junio de 2011

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

artículo científico publicado en 2017

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

artículo científico publicado en 2016

Molecular evidence of HIV-1 transmission in a criminal case

artículo científico publicado en 2002

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

artículo científico publicado en 2019

Molecular findings among patients referred for clinical whole-exome sequencing

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

artículo científico publicado en 2015

Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma

artículo científico publicado en 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)

artículo científico publicado en 2002

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

artículo científico publicado en 2008

Mutational landscape of aggressive cutaneous squamous cell carcinoma

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Next-generation sequencing identifies rare variants associated with Noonan syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado el 14 de diciembre de 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2021

Open access data sharing in genomic research

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado el 8 de agosto de 2012

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

artículo científico publicado en 2008

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

artículo científico publicado el 30 de septiembre de 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

POGZ truncating alleles cause syndromic intellectual disability.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

Pericyclic prenylation: peptide modification through a Claisen rearrangement

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

Phenotypic expansion illuminates multilocus pathogenic variation.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

Pooled genomic indexing of rhesus macaque

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Prevalence of spinocerebellar ataxia 36 in a US population

artículo científico publicado en 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

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 ⬇️

artículo científico publicado el 22 de enero de 2011

Problems and Solutions

article

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

Recommendations of the 2006 Human Variome Project meeting

artículo científico publicado en 2007

Reconstructing sex chromosome evolution.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

scientific journal article

Recurrent duplication-driven transposition of DNA during hominoid evolution

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Reply to Seligman

scientific article published in 2006

Reproductive Longevity Predicts Mutation Rates in Primates

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

artículo científico publicado en 2016

Role of somatic mutations in vascular disease formation

artículo científico publicado en 2010

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

artículo científico publicado el 28 de noviembre de 2011

SNPdetector: a software tool for sensitive and accurate SNP detection

artículo científico publicado en 2005

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

artículo científico publicado el 1 de diciembre de 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

SYT1-associated neurodevelopmental disorder: a case series

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Secondary findings and carrier test frequencies in a large multiethnic sample

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2014

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.

artículo científico publicado en 2003

Sequence variation in DOCK9 and heterogeneity in bipolar disorder.

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Shedding genomic light on Aristotle's lantern

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Solid-phase synthesis of prenylcysteine analogs

artículo científico publicado en 2009

Somatic mutations affect key pathways in lung adenocarcinoma

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Synthesis of 7-substituted farnesyl diphosphate analogues

scientific article published on 01 September 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Synthesis of frame-shifted farnesyl diphosphate analogs

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2011

Taking DNA from the dead

artículo científico publicado en 2010

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

artículo científico publicado el 25 de julio de 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2022

The Atlas genome assembly system

artículo científico publicado en 2004

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

artículo científico publicado en 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.

artículo científico publicado en 2012

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The DNA sequence, annotation and analysis of human chromosome 3

artículo científico publicado en 2006

The Drosophila melanogaster Genetic Reference Panel

artículo científico publicado en 2012

The Drosophila melanogaster transcriptome by paired-end RNA sequencing

artículo científico publicado en 2010

The Earth BioGenome Project 2020: Starting the clock

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

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

artículo científico publicado en 2018

The Somatic Genomic Landscape of Glioblastoma

article

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2002

The comparative genomics and complex population history of baboons

artículo científico publicado en 2019

The complete genome of an individual by massively parallel DNA sequencing

artículo científico publicado en 2008

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

artículo científico publicado en 2008

The completion of the Mammalian Gene Collection (MGC).

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

The finished DNA sequence of human chromosome 12

artículo científico publicado en 2006

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

artículo científico publicado en 2014

The functional spectrum of low-frequency coding variation ⬇️

artículo científico publicado el 14 de septiembre de 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

The genome of the model beetle and pest Tribolium castaneum

artículo científico publicado en 2008

The genome of the sea urchin Strongylocentrotus purpuratus

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

The gut mycobiome of the Human Microbiome Project healthy cohort.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

The phenotypic spectrum of Xia-Gibbs syndrome

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

The sheep genome illuminates biology of the rumen and lipid metabolism

artículo científico publicado en 2014

The somatic genomic landscape of chromophobe renal cell carcinoma

artículo científico publicado en 2014

The somatic genomic landscape of glioblastoma

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2016

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).

artículo científico publicado en 2014

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

Trp modification signals a quorum

artículo científico publicado en 2005

Truvari: refined structural variant comparison preserves allelic diversity

artículo científico publicado en 2022

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado el 3 de mayo de 2012

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

artículo científico publicado en 2004

WGSA: an annotation pipeline for human genome sequencing studies.

artículo científico publicado en 2015

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

artículo científico publicado en 2017

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

Whole Exome Sequencing in Atrial Fibrillation

artículo científico publicado en 2016

Whole exome capture in solution with 3 Gbp of data

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Whole-genome landscape of pancreatic neuroendocrine tumours.

artículo científico publicado en 2017

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

artículo científico publicado el 16 de junio de 2013

Whole-genome sequencing for optimized patient management

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado el 10 de agosto de 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

artículo científico publicado en 2009

X-cess of variants in XLMR.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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