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GIBBS, RICHARD

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Item Type	Name
Academic Article	Concatenation cDNA sequencing for transcriptome analysis.
Academic Article	Pooled genomic indexing of rhesus macaque.
Academic Article	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Academic Article	Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection.
Academic Article	SNPdetector: a software tool for sensitive and accurate SNP detection.
Academic Article	The finished DNA sequence of human chromosome 12.
Academic Article	Genetics. No longer de-identified.
Academic Article	Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Academic Article	Genome-wide linkage disequilibrium and haplotype maps.
Academic Article	Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia.
Academic Article	The complete genome of an individual by massively parallel DNA sequencing.
Academic 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.
Academic Article	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Academic Article	Personalized copy number and segmental duplication maps using next-generation sequencing.
Academic Article	Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome.
Academic Article	Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing.
Academic Article	Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.
Academic Article	Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential.
Academic Article	Genetic diversity in India and the inference of Eurasian population expansion.
Academic Article	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Academic Article	Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase.
Academic Article	Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay.
Academic Article	Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay.
Academic Article	Demographic history and rare allele sharing among human populations.
Academic Article	The DNA sequence of the human X chromosome.
Academic Article	Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.
Academic Article	Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Academic Article	Clan genomics and the complex architecture of human disease.
Academic Article	Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion.
Academic Article	Exome capture sequencing identifies a novel mutation in BBS4.
Academic 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.
Academic Article	Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.
Academic Article	Community annotation: procedures, protocols, and supporting tools.
Academic Article	The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Academic Article	Meeting the growing demands of genetic research.
Academic Article	Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Academic Article	An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data.
Academic Article	Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Academic Article	WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Academic Article	28-way vertebrate alignment and conservation track in the UCSC Genome Browser.
Academic Article	Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.
Academic Article	What everybody should know about the rat genome and its online resources.
Academic Article	Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Academic Article	Somatic mutations affect key pathways in lung adenocarcinoma.
Academic Article	Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
Academic Article	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.
Academic Article	Low frequency of MLL3 mutations in colorectal carcinoma.
Academic Article	Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children.
Academic Article	Whole exome capture in solution with 3 Gbp of data.
Academic Article	Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Academic Article	Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival.
Academic Article	Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children.
Academic Article	Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.
Academic Article	Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Academic Article	An integrative variant analysis suite for whole exome next-generation sequencing data.
Academic Article	Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Academic Article	Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.
Academic Article	Comparative and demographic analysis of orang-utan genomes.
Academic Article	Genome-sequencing anniversary. Bringing genomics and genetics back together.
Academic Article	Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.
Academic Article	The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Academic Article	Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes.
Academic Article	Bioactivity and bioavailability of ginsenosides are dependent on the glycosidase activities of the A/J mouse intestinal microbiome defined by pyrosequencing.
Academic Article	Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.
Academic Article	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Academic Article	Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Academic Article	Landscape of somatic retrotransposition in human cancers.
Academic Article	Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Academic Article	MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes.
Academic Article	Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Academic Article	Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
Academic Article	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Academic Article	Yunis-Var?n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Academic Article	Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series.
Academic Article	Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
Academic Article	Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004.
Academic Article	The DNA sequence, annotation and analysis of human chromosome 3.
Academic Article	Direct selection of human genomic loci by microarray hybridization.
Academic Article	Characterizing the cancer genome in lung adenocarcinoma.
Academic Article	Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells.
Academic Article	Common and rare variants of DAOA in bipolar disorder.
Academic Article	Metagenomic pyrosequencing and microbial identification.
Academic Article	Complete Khoisan and Bantu genomes from southern Africa.
Academic Article	Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article	TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Academic Article	Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications.
Academic Article	Whole-genome sequencing for optimized patient management.
Academic Article	Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer.
Academic Article	Human genome sequencing in health and disease.
Academic Article	Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
Academic Article	Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms.
Academic Article	Genomics: Gorilla gorilla gorilla.
Academic Article	Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma.
Academic Article	Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Academic Article	Early childhood presentation of Czech dysplasia.
Academic Article	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Concept	Humans
Concept	Chromosomes, Human, Pair 18
Concept	Chromosomes, Human, Pair 12
Concept	Chromosomes, Human, Pair 15
Concept	Chromosomes, Human, X
Concept	Chromosomes, Human, Y
Concept	Human Genome Project
Concept	Chromosomes, Human, Pair 17
Concept	Chromosomes, Human
Concept	Chromosomes, Human, Pair 14
Concept	Chromosomes, Human, Pair 11
Concept	Chromosomes, Human, Pair 1
Concept	Chromosomes, Human, Pair 19
Concept	Genome, Human
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 5
Concept	Milk, Human
Concept	Chromosomes, Human, Pair 6
Concept	Respiratory Syncytial Virus, Human
Concept	Chromosomes, Human, Pair 13
Concept	Chromosomes, Human, Pair 9
Concept	Herpesvirus 4, Human
Academic Article	Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.
Academic Article	Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
Academic Article	Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
Academic Article	Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
Academic Article	Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
Academic Article	Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Academic Article	Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.
Academic Article	Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
Academic Article	Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article	Integrative annotation of variants from 1092 humans: application to cancer genomics.
Academic Article	The somatic genomic landscape of glioblastoma.
Academic Article	Genetic and molecular alterations in pancreatic cancer: implications for personalized medicine.
Academic Article	A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Academic Article	A map of human genome variation from population-scale sequencing.
Academic Article	The genetic basis of DOORS syndrome: an exome-sequencing study.
Academic Article	Effects of TP53 mutational status on gene expression patterns across 10 human cancer types.
Academic Article	NR2F1 mutations cause optic atrophy with intellectual disability.
Academic Article	Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Academic Article	Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
Academic Article	Neutral genomic regions refine models of recent rapid human population growth.
Academic Article	Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
Academic Article	Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Academic Article	Comparative primate genomics: emerging patterns of genome content and dynamics.
Academic Article	Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.
Academic Article	Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Academic Article	Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article	Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Academic Article	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article	De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Academic Article	A preseason cardiorespiratory profile of dancers in nine professional ballet and modern companies.
Academic Article	Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Academic Article	Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Academic 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.
Academic Article	ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic 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.
Academic Article	Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
Academic Article	Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article	Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium.
Academic Article	Comparative validation of the D. melanogaster modENCODE transcriptome annotation.
Academic Article	Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Academic Article	Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers.
Academic Article	Novel somatic and germline mutations in intracranial germ cell tumours.
Academic Article	PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Academic Article	Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Academic Article	Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Academic Article	Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Academic Article	Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Academic Article	A framework for the interpretation of de novo mutation in human disease.
Academic Article	Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.
Academic Article	The somatic genomic landscape of chromophobe renal cell carcinoma.
Academic Article	Gibbon genome and the fast karyotype evolution of small apes.
Academic Article	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article	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.
Academic Article	New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Academic Article	Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Academic Article	Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Academic Article	Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Academic Article	Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
Academic Article	Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.
Academic Article	Mutational landscape of aggressive cutaneous squamous cell carcinoma.
Academic Article	Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Academic Article	Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article	Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
Academic Article	Trans-ancestry mutational landscape of hepatocellular carcinoma genomes.
Academic Article	Whole genome sequencing of SIV-infected macaques identifies candidate loci that may contribute to host control of virus replication.
Academic Article	Germline mutations in shelterin complex genes are associated with familial glioma.
Academic Article	Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium.
Academic Article	Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Academic Article	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Academic Article	Inactivating mutations in NPC1L1 and protection from coronary heart disease.
Academic Article	Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).
Academic Article	Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Academic Article	Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Academic Article	Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.
Academic Article	Coronary heart disease and genetic variants with low phospholipase A2 activity.
Academic Article	Convergent evolution of the genomes of marine mammals.
Academic Article	Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Academic Article	FBN1 contributing to familial congenital diaphragmatic hernia.
Academic Article	The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
Academic Article	Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Academic Article	DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Academic Article	PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Academic Article	Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Academic Article	COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Academic Article	Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
Academic Article	Adult presentation of X-linked Conradi-H?nermann-Happle syndrome.
Academic Article	Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Academic Article	Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Academic Article	Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
Academic Article	Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
Academic Article	Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Academic Article	Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.
Academic Article	Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Academic Article	Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Academic Article	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article	Assessing structural variation in a personal genome-towards a human reference diploid genome.
Academic Article	Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.
Academic Article	Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Academic Article	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Academic Article	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article	The Matchmaker Exchange: a platform for rare disease gene discovery.
Academic Article	Structure and function of the healthy pre-adolescent pediatric gut microbiome.
Academic Article	WGSA: an annotation pipeline for human genome sequencing studies.
Academic Article	An integrated map of structural variation in 2,504 human genomes.
Academic Article	Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.
Academic Article	Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Academic Article	Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes.
Academic Article	Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article	De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Academic Article	POGZ truncating alleles cause syndromic intellectual disability.
Academic Article	The ethics of conducting molecular autopsies in cases of sudden death in the young.
Academic Article	The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article	Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article	Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Academic Article	Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Academic Article	Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Academic Article	Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation.
Academic Article	DNAism: exploring genomic datasets on the web with Horizon Charts.
Academic Article	An open access pilot freely sharing cancer genomic data from participants in Texas.
Academic Article	Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Academic Article	Genomic analyses identify molecular subtypes of pancreatic cancer.
Academic Article	DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Academic Article	Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Academic Article	Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma.
Academic Article	ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data.
Academic Article	PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Academic Article	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article	Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article	Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Academic Article	Two male sibs with severe micrognathia and a missense variant in MED12.
Academic Article	A comprehensive transcriptional map of primate brain development.
Academic Article	Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article	Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Academic Article	Association of the IGF1 gene with fasting insulin levels.
Academic Article	Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Academic Article	Short- and Long-term Results of Hybrid Arch and Proximal Descending Thoracic Aortic Repair: A Benchmark for New Technologies.
Academic Article	Whole Exome Sequencing in Atrial Fibrillation.
Academic Article	Loss-of-function variants influence the human serum metabolome.
Academic Article	A hybrid computational strategy to address WGS variant analysis in >5000 samples.
Academic Article	Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.
Academic Article	Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article	Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Academic Article	Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
Academic 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.
Academic Article	Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Academic Article	Whole genome sequence analysis of serum amino acid levels.
Academic Article	Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Academic Article	Biallelic mutations in IRF8 impair human NK cell maturation and function.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article	Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Academic Article	Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
Academic Article	MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Academic Article	Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome.
Academic Article	Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article	Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Academic Article	Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Academic 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.
Academic Article	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article	Whole-genome landscape of pancreatic neuroendocrine tumours.
Academic Article	SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.
Academic Article	Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
Academic Article	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Academic Article	An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article	Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Academic Article	Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Academic Article	Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Academic Article	Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Academic Article	REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Academic Article	Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
Academic Article	Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Academic Article	Creating a data resource: what will it take to build a medical information commons?
Academic Article	Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC).
Academic Article	The gut mycobiome of the Human Microbiome Project healthy cohort.
Academic Article	A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article	Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Academic Article	Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article	Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Academic Article	Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment.
Academic Article	Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.
Academic Article	Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology.
Academic Article	Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host.
Academic Article	Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer.
Academic Article	The phenotypic spectrum of Xia-Gibbs syndrome.
Academic Article	Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study.
Academic Article	Antihypertensive medication adherence in chronic type B aortic dissection is an important consideration in the management debate.
Academic Article	The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.
Academic Article	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Academic Article	Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Academic Article	Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Academic Article	Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Academic Article	Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Academic Article	Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
Academic Article	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Academic Article	Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Academic Article	Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
Academic Article	Reproductive Longevity Predicts Mutation Rates in Primates.
Academic Article	Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Academic Article	Evaluation of Margin Status of a Breast Lumpectomy Specimen: What the Radiologist Should Know.
Academic Article	Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article	Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Academic Article	SYT1-associated neurodevelopmental disorder: a case series.
Academic Article	Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Academic Article	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.
Academic Article	Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Academic Article	Temporal development of the gut microbiome in early childhood from the TEDDY study.
Academic Article	Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article	Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Academic Article	Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Academic Article	Genetic architecture of laterality defects revealed by whole exome sequencing.
Academic Article	Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample.
Academic Article	The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.
Grant	Draft Sequence of the Rat Genome
Grant	A Microbial Genome Reference Platform for Metagenomics
Grant	Inhibition of Prenylated Protein Processing
Grant	Proteomic Analysis of Protein Prenylation
Grant	Genomic Architecture of Common Disease in Diverse Populations
Grant	DNA Sequencing Support for the eMERGE Network
Grant	Filling the data processing gap for exon-region specific data from 1000 Genomes
Grant	Comprehensive Analysis of Genetic Alterations in Oral Cancer
Grant	The Human Genome Sequencing Center
Grant	MEGABASE SEQUENCING OF HUMAN XQ28
Grant	CONTINUING MEGABASE SEQUENCING AT THE BCM HGSC
Grant	Sequencing, assembly and annotation of a second Drosoph*
Grant	CONTINUING MEGABASE SEQUENCING ON THE HUMAN X CHROMOSOME
Grant	CHEMICAL PROBES OF PROTEIN PRENYLATION
Grant	The BCM Tumor Genome Characterization Center
Grant	The Genetic and Genomic Study of MicroRNA in Bipolar and Schizophrenia
Grant	The Baylor-Hopkins Clinical Genomics Center for All of Us
Grant	A Human Haplotype Map by a Highly Multiplexed Method
Grant	SEQUENCING THE RAT GENOME
Academic Article	The comparative genomics and complex population history of Papio baboons.
Academic Article	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Academic Article	Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic 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.
Academic Article	Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Academic Article	A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Academic Article	Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Academic Article	Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome.
Academic Article	Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Concept	Human Migration
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	ARBoR: an identity and security solution for clinical reporting.
Academic Article	Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.
Academic Article	The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article	Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Academic Article	Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).
Academic Article	Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Academic Article	Evaluation of computational genotyping of structural variation for clinical diagnoses.
Academic Article	Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Academic Article	A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Academic Article	Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article	A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article	Prospective virome analyses in young children at increased genetic risk for type 1 diabetes.
Academic Article	Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Academic Article	Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Academic Article	Short- and long-term outcomes in isolated penetrating aortic ulcer disease.
Academic Article	Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Grant	Shared Sequel II Systems at BCM HGSC
Academic Article	Cultivating DNA Sequencing Technology After the Human Genome Project.
Academic Article	Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Academic Article	Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Academic Article	Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Academic Article	Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
Academic Article	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article	HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Academic Article	Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Academic Article	The Human Genome Project changed everything.
Academic Article	Human NK cell deficiency as a result of biallelic mutations in MCM10.
Academic Article	Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Academic Article	Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Academic Article	Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Academic Article	NF-?B and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells.
Academic Article	NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Academic Article	High-depth African genomes inform human migration and health.
Academic Article	Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages.
Academic Article	PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
Academic Article	Parliament2: Accurate structural variant calling at scale.
Academic Article	Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Academic Article	Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article	DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association.
Academic Article	Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Academic Article	Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Academic Article	RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Academic Article	Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Academic Article	A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Academic Article	Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Academic Article	Author Correction: High-depth African genomes inform human migration and health.
Academic Article	Genomic considerations for FHIR?; eMERGE implementation lessons.
Academic Article	Four-year results of the Bolton relay proximal scallop endograft in the management of thoracic and thoracoabdominal aortic pathology with unfavorable proximal landing zone.
Academic Article	Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Academic Article	Risk of sudden cardiac death in EXOSC5-related disease.
Academic Article	Exome variant discrepancies due to reference-genome differences.
Academic Article	Neptune: an environment for the delivery of genomic medicine.
Academic Article	Technical Note: Left Subclavian Artery Scallop Endografts to Facilitate a Proximal Landing Zone and Upper Extremity Access for Branched Endovascular Aortic Repair of Type II Thoracoabdominal Aortic Aneurysms.
Academic Article	Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Academic Article	Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Academic Article	Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Academic Article	Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Academic Article	Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Academic Article	Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals.
Academic Article	COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Academic Article	Response to Biesecker et?al.
Academic Article	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Academic Article	High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Academic Article	Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections.
Academic Article	Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Academic Article	Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling.
Academic Article	Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Academic Article	Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Academic Article	Harmonizing variant classification for return of results in the All of Us Research Program.
Academic Article	Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Academic Article	Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.
Academic Article	Multiple Respiratory Syncytial Virus (RSV) Strains Infecting HEp-2 and A549 Cells Reveal Cell Line-Dependent Differences in Resistance to RSV Infection.
Academic Article	Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Academic Article	Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Academic Article	Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Academic Article	Fully resolved assembly of Cryptosporidium parvum.
Academic Article	2021 Allan Award.
Academic Article	Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
Academic Article	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article	The Earth BioGenome Project 2020: Starting the clock.
Academic Article	Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Academic Article	Coverage of the Coeliac Artery During Thoracic Endovascular Aortic Repair: A Systematic Review and Meta-Analysis.
Academic Article	Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Academic Article	Whole-exome sequencing of 14?389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Academic Article	Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Academic Article	Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Academic Article	TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Academic Article	An ELF4 hypomorphic variant results in NK cell deficiency.
Academic Article	A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Academic Article	Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function.
Academic Article	Functional characteristics of a broad spectrum of TBX6?variants in Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article	A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Academic Article	Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease.
Academic Article	Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.
Academic Article	Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
Academic Article	Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease.
Academic Article	Truvari: refined structural variant comparison preserves allelic diversity.
Academic Article	The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Academic Article	Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer.
Academic Article	Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Academic Article	Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.
Academic Article	Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Academic Article	The genomic landscape of familial glioma.
Academic Article	Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Academic Article	Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article	Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Academic Article	Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Academic Article	Patient Reported Outcome Measures Used to Assess Quality of Life in Aortic Dissection: a Systematic Scoping Review using COSMIN Methodology.
Academic Article	Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Academic Article	Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Academic Article	Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Academic Article	Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.
Academic Article	Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Academic Article	Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis.
Academic Article	Endocrine-Sensitive Disease Rate in Postmenopausal Patients With Estrogen Receptor-Rich/ERBB2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, or Their Combination: A Phase 3 Randomized Clinical Trial.
Academic Article	?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
Academic Article	The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Academic Article	Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Academic Article	Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Academic Article	NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

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