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List of works by Donna Muzny

16S gut community of the Cameron County Hispanic Cohort

scientific article

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

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 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 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 massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor.

scientific article published on 5 February 2015

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

scientific article published on 10 October 2019

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 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 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

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

scientific article published in July 2014

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

scientific article

Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts

scientific article published on 26 December 2019

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

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 structural variation in 2,504 human genomes

scientific article

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

scientific article

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

scientific article published in June 2007

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

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

scientific article published on 11 April 2015

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

scientific article

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 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

BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children

scientific article

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

scientific article published on 31 August 2016

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

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

scientific article

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

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

Butterfly genome reveals promiscuous exchange of mimicry adaptations among species ⬇️

scientific article (publication date: 16 May 2012)

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

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

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

scientific article

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

scientific article published on 16 November 2017

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

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

scientific article

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

article

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

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-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 validation of the D. melanogaster modENCODE transcriptome annotation.

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 Pan-Genomic Characterization of Adrenocortical Carcinoma

article

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

scientific article published on 01 May 2022

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

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: 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

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

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

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

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

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

scientific article

Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series

scientific article published on 01 November 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

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 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 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

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

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

Extreme Sensory Complexity Encoded in the 10-Megabase Draft Genome Sequence of the Chromatically Acclimating Cyanobacterium Tolypothrix sp. PCC 7601

scientific article published on 7 May 2015

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

Gene content evolution in the arthropods

scientific article published on 23 January 2020

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

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 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 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

Genetics of schizophrenia in the South African Xhosa

scientific article published on 31 January 2020

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-enabled insights into the biology of thrips as crop pests

scientific article published on 19 October 2020

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

scientific article

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

scientific article

Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse

scientific article published on 03 March 2016

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

scientific article published on 9 November 2015

Genomic signatures of cooperation and conflict in the social amoeba.

scientific article

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

High incidence of IDH mutations in acute myeloid leukaemia with cuplike nuclei

scientific article published on 12 April 2011

High-depth African genomes inform human migration and health

scientific article published on 28 October 2020

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

scientific article

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

scientific article published on 31 August 2020

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

scientific article

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

scientific article published on 16 November 2017

IRF2BPL Is Associated with Neurological Phenotypes

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.

scientific article

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

scientific article

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

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

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

scientific article

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

scientific article published on 18 January 2019

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

article

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

scientific article published on 28 July 2020

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

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

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

scientific article published on 8 July 2008

Large-scale concatenation cDNA sequencing

scientific article

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

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

scientific article

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

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

scientific article

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

scientific article published on 13 July 2020

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

scientific article published on 25 June 2015

MHC genotyping from rhesus macaque exome sequences

scientific article published on 18 July 2019

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

scientific article

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

scientific article

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

scientific article published on 31 December 2018

Mapping and characterization of structural variation in 17,795 human genomes

scientific article published on 27 May 2020

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

scientific article published on 28 February 2019

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

Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques

scientific article published on 01 March 2018

Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment

scientific article published on 16 November 2020

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 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

scientific article

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

scientific article published on 07 October 2019

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

scientific article

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

scientific article

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

scientific article

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

scientific article published on 16 December 2015

Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta.

scientific article published on 11 August 2016

Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma

scientific article published on 2 March 2016

Mutational landscape of aggressive cutaneous squamous cell carcinoma

scientific article

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

scientific 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

scientific article

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

scientific article

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

scientific article

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

scientific journal article

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

scientific article

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

scientific article

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

scientific article

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

scientific article

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

scientific article published on 25 July 2020

Next-generation sequencing identifies rare variants associated with Noonan syndrome

scientific article

Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism

scientific article published in January 2018

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

scientific article published in August 2017

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

scientific article published on 13 October 2020

Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer

scientific article published on 23 April 2016

Novel somatic and germline mutations in intracranial germ cell tumours.

scientific article

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

scientific article

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

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

scientific article published on 19 November 2020

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

Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032

scientific article

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability

scientific article published on 27 May 2020

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

scientific article

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 illuminates multilocus pathogenic variation.

scientific article

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

scientific article published on 15 September 2018

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

scientific article

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

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

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

article

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

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

scientific article published in July 2017

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.

scientific article

Reanalysis of Clinical Exome Sequencing Data

scientific article published on 01 June 2019

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

scientific journal article

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

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

scientific article

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

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

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

scientific article

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.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 28 February 2018

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

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

Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.

scientific article published on 28 November 2018

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

scientific article

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

scientific article

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

scientific article

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

scientific article published on 26 August 2015

Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus

scientific article

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

scientific article published on 21 May 2018

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

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

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

scientific article published in Nature

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

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

scientific article

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

scientific article published on 28 March 2018

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

scientific article published on 10 April 2018

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

scientific article

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

scientific article

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

scientific article

The finished DNA sequence of human chromosome 12

scientific article

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

scientific article

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The genome of the model beetle and pest Tribolium castaneum

scientific article

The genome of the sea urchin Strongylocentrotus purpuratus

scientific article

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 Mannheimia haemolytica A1: insights into virulence, natural competence, and Pasteurellaceae phylogeny

scientific article

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

scientific article

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

scientific article

The gut mycobiome of the Human Microbiome Project healthy cohort.

scientific article

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 next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

scientific article published on 26 January 2017

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

scientific article

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

scientific article

The sheep genome illuminates biology of the rumen and lipid metabolism

scientific article

The somatic genomic landscape of chromophobe renal cell carcinoma

scientific article (publication date: 8 September 2014)

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

scientific article

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

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

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

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

scientific article published on 7 June 2016

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

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

article

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

scientific article published on 14 October 2020

Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strains

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

article

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 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 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

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

scientific article

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