| human | Q5 |
| P496 | ORCID iD | 0000-0002-2082-3114 |
| P1053 | ResearcherID | D-4771-2009 |
| P69 | educated at | University of Michigan | Q230492 |
| Duke University School of Medicine | Q4119601 | ||
| P108 | employer | UCLA David Geffen School of Medicine | Q842165 |
| P734 | family name | Nelson | Q2782528 |
| Nelson | Q2782528 | ||
| Nelson | Q2782528 | ||
| P735 | given name | Stanley | Q3541269 |
| Stanley | Q3541269 | ||
| P106 | occupation | researcher | Q1650915 |
| Q113098872 | 735. Functional Restoration of Dystrophin Protein in HiPSC-Derived Skeletal Myotubes and Cardiomyocytes After CRISPR/Cas9-Mediated Deletion of 530-725kb of DMD |
| Q33747402 | A Path to Implement Precision Child Health Cardiovascular Medicine |
| Q41920971 | A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay |
| Q36782735 | A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells |
| Q91137356 | A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders |
| Q30657452 | A genetic analysis of neural progenitor differentiation |
| Q46614151 | A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity |
| Q28943508 | A genome-wide scan for common alleles affecting risk for autism |
| Q33904739 | A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11 |
| Q35764263 | A genomewide scan for loci involved in attention-deficit/hyperactivity disorder |
| Q54963859 | A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. |
| Q46571947 | A new episodic ataxia syndrome with linkage to chromosome 19q13. |
| Q36785731 | A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome |
| Q35828248 | A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder |
| Q28292192 | A novel mutation in KCNA1 causes episodic ataxia without myokymia |
| Q28139772 | A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia |
| Q37156164 | A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan |
| Q98612052 | A well tolerated core needle muscle biopsy process suitable for children and adults |
| Q46888161 | ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2. |
| Q35031030 | Accuracy of phenotyping of autistic children based on Internet implemented parent report |
| Q35127284 | Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target |
| Q37725303 | Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair |
| Q42718507 | Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. |
| Q46432376 | Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings |
| Q46212202 | Association of progesterone receptor with migraine-associated vertigo |
| Q37200559 | Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder |
| Q33910181 | Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11. |
| Q35631598 | Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells |
| Q21142709 | BFAST: an alignment tool for large scale genome resequencing |
| Q34139959 | BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing |
| Q37180426 | Bevacizumab and chemotherapy for recurrent glioblastoma: a single-institution experience |
| Q64042188 | Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism |
| Q73181683 | Biased paternal transmission of SNAP-25 risk alleles in attention-deficit hyperactivity disorder |
| Q36259173 | Bone morphogenetic protein 7 sensitizes O6-methylguanine methyltransferase expressing-glioblastoma stem cells to clinically relevant dose of temozolomide. |
| Q40101085 | C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy |
| Q37440385 | CBCL pediatric bipolar disorder profile and ADHD: comorbidity and quantitative trait loci analysis |
| Q24301924 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium |
| Q55334031 | Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. |
| Q54121876 | Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. |
| Q93384433 | Cardiac MRI biomarkers for Duchenne muscular dystrophy |
| Q33287501 | Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression |
| Q33287798 | Celsius: a community resource for Affymetrix microarray data |
| Q39579183 | Characterization of three cell lines derived from fine needle biopsy of choroidal melanoma with metastatic outcome |
| Q24644490 | Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome |
| Q37730054 | Clinical aggressiveness of malignant gliomas is linked to augmented metabolism of amino acids |
| Q34782655 | Clinical exome sequencing for genetic identification of rare Mendelian disorders |
| Q36553983 | Clinical exome sequencing in neurogenetic and neuropsychiatric disorders |
| Q40065169 | Cognitive functioning in affected sibling pairs with ADHD: familial clustering and dopamine genes |
| Q35817877 | Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions |
| Q46716339 | Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes |
| Q98206786 | Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 |
| Q89665245 | Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder |
| Q98568614 | Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants |
| Q55357739 | Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. |
| Q64044936 | DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype |
| Q30414408 | DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study |
| Q34029044 | DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study |
| Q35892040 | DNA-microarray analysis of brain cancer: molecular classification for therapy |
| Q36184564 | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies |
| Q39225878 | Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy |
| Q33812098 | De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing |
| Q28271794 | De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia |
| Q35221908 | De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay |
| Q35589288 | Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas ligand pathway |
| Q46949366 | Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays |
| Q28273884 | Demographically-Based Evaluation of Genomic Regions under Selection in Domestic Dogs |
| Q30978501 | Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data |
| Q33295390 | Detection of a microRNA signal in an in vivo expression set of mRNAs |
| Q90679190 | Diagnostic utility of transcriptome sequencing for rare Mendelian diseases |
| Q43517288 | Differential gene expression in glioblastoma defined by ADC histogram analysis: relationship to extracellular matrix molecules and survival. |
| Q28252154 | Differential induction of glioblastoma migration and growth by two forms of pleiotrophin |
| Q33521690 | Disease gene characterization through large-scale co-expression analysis |
| Q24546729 | Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure |
| Q96293258 | Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab |
| Q58198513 | Distinct gene expression profiles in adult mouse heart following targeted MAP kinase activation |
| Q46259525 | Distinct transcription profiles of primary and secondary glioblastoma subgroups. |
| Q56980618 | Dusp6 is a genetic modifier of growth through enhanced ERK activity |
| Q36920081 | EGFR mutation-induced alternative splicing of Max contributes to growth of glycolytic tumors in brain cancer |
| Q48097715 | ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs. |
| Q57285414 | Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease |
| Q61661589 | Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease |
| Q33796975 | Emerging genetic therapies to treat Duchenne muscular dystrophy |
| Q27865182 | Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain |
| Q36226838 | Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. |
| Q47988949 | Evaluation of techniques using amplified nucleic acid probes for gene expression profiling |
| Q51973111 | Evidence for linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD). |
| Q33910570 | Evidence for sex-specific risk alleles in autism spectrum disorder |
| Q34475515 | Evidence that the dopamine D4 receptor is a susceptibility gene in attention deficit hyperactivity disorder |
| Q90718096 | Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy |
| Q36818450 | Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death |
| Q34219041 | Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus |
| Q35055057 | Exome sequencing for the diagnosis of 46,XY disorders of sex development. |
| Q35877826 | Exome sequencing identifies PDE4D mutations in acrodysostosis |
| Q33725846 | Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation |
| Q35073865 | Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia |
| Q35231005 | Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV |
| Q35722195 | Expanding the mutational spectrum of LZTR1 in schwannomatosis |
| Q35600539 | Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. |
| Q33370413 | Expression profile of CREB knockdown in myeloid leukemia cells |
| Q44842740 | FDA Approval of Eteplirsen for Muscular Dystrophy |
| Q37367980 | Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). |
| Q34058530 | Familial clustering and DRD4 effects on electroencephalogram measures in multiplex families with attention deficit/hyperactivity disorder |
| Q73006472 | Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p |
| Q28217934 | Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25 |
| Q71041634 | Familial migraine with vertigo and essential tremor |
| Q46574115 | Familial migraine with vertigo: no mutations found in CACNA1A. |
| Q28943341 | Family-based genome-wide association scan of attention-deficit/hyperactivity disorder |
| Q28485317 | Functional consequences of a novel variant of PCSK1 |
| Q24596191 | Functional impact of global rare copy number variation in autism spectrum disorders |
| Q37406548 | Fyn and SRC are effectors of oncogenic epidermal growth factor receptor signaling in glioblastoma patients |
| Q92712635 | GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder |
| Q34790129 | Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia |
| Q33235411 | Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks |
| Q33378354 | Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age |
| Q34764143 | Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy |
| Q47719947 | Gene expression profiling identifies molecular subtypes of gliomas |
| Q46043661 | Gene expression profiling of gliomas strongly predicts survival |
| Q96348929 | Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition |
| Q91955646 | Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot |
| Q91843123 | Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome |
| Q43657125 | Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia |
| Q37203228 | Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism |
| Q39931953 | Genetically defined EWS/FLI1 model system suggests mesenchymal origin of Ewing's family tumors |
| Q21092403 | Genome sequencing highlights the dynamic early history of dogs |
| Q36695755 | Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. |
| Q46116441 | Genome-wide association study of intelligence: additive effects of novel brain expressed genes |
| Q28254567 | Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder |
| Q42613559 | Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects |
| Q46183195 | Genomic Identification of Significant Targets in Ciliochoroidal Melanoma |
| Q35197844 | Genomic landscape of meningiomas. |
| Q24318450 | Genomic organization, 5' flanking enhancer region, and chromosomal assignment of the cell cycle gene, p55Cdc |
| Q48579417 | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). |
| Q46126953 | High density SNP association study of a major autism linkage region on chromosome 17. |
| Q34262912 | High throughput screening for compounds that alter muscle cell glycosylation identifies new role for N-glycans in regulating sarcolemmal protein abundance and laminin binding |
| Q24631792 | High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene |
| Q46782226 | High-throughput sequencing of the DBA/2J mouse genome |
| Q41920491 | Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. |
| Q56003386 | IRF2BPL Is Associated with Neurological Phenotypes |
| Q58761689 | IRF2BPL Is Associated with Neurological Phenotypes |
| Q24316024 | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome |
| Q43637003 | Identification of Candidate Tumor Oncogenes by Integrative Molecular Analysis of Choroidal Melanoma Fine-Needle Aspiration Biopsy Specimens |
| Q24647346 | Identification of EpCAM as the gene for congenital tufting enteropathy |
| Q36106984 | Identification of allele-specific alternative mRNA processing via transcriptome sequencing |
| Q35036420 | Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids |
| Q48332534 | Identification of molecular subtypes of glioblastoma by gene expression profiling |
| Q47833960 | Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model |
| Q36486875 | Identification of retinol binding protein 1 promoter hypermethylation in isocitrate dehydrogenase 1 and 2 mutant gliomas. |
| Q34573775 | Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia |
| Q33713232 | Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA |
| Q33521536 | Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing |
| Q40156702 | In Silico Enhanced Restriction Enzyme Based Methylation Analysis of the Human Glioblastoma Genome Using Agilent 244K CpG Island Microarrays |
| Q28943296 | Individual common variants exert weak effects on the risk for autism spectrum disorders |
| Q35720774 | Insulin growth factor-binding protein 2 is a candidate biomarker for PTEN status and PI3K/Akt pathway activation in glioblastoma and prostate cancer |
| Q87400167 | Interpreting whole-genome sequencing |
| Q30488888 | Joint mouse-human phenome-wide association to test gene function and disease risk |
| Q91666210 | KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants |
| Q91041459 | Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature |
| Q28511992 | Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210 |
| Q36695811 | Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders |
| Q24305575 | Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene |
| Q33615417 | Local alignment of generalized k-base encoded DNA sequence |
| Q33464728 | Local alignment of two-base encoded DNA sequence |
| Q41388495 | Loss of ADAM17 is associated with severe multiorgan dysfunction. |
| Q24311638 | Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling |
| Q112794583 | Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling |
| Q28910486 | Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration |
| Q46386324 | Loss of annexin A1 expression in human breast cancer detected by multiple high-throughput analyses |
| Q46815739 | Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. |
| Q30649520 | Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects |
| Q57761599 | Loss-of-function in IRF2BPL is associated with neurological phenotypes |
| Q28591125 | Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation |
| Q46137091 | Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells |
| Q36489360 | Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance |
| Q24629474 | Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation |
| Q33931361 | Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder |
| Q41558637 | Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation |
| Q100503527 | Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation |
| Q35184074 | Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy |
| Q34366050 | Molecular diagnosis of putative Stargardt Disease probands by exome sequencing |
| Q37250253 | Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors |
| Q41859735 | Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies |
| Q38337029 | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. |
| Q46324225 | Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. |
| Q29147434 | Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome |
| Q24321595 | Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 |
| Q24319369 | Mutations in PYCR1 cause cutis laxa with progeroid features |
| Q24337705 | Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis |
| Q24336742 | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome |
| Q24613553 | Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration |
| Q89617304 | Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing |
| Q42634325 | Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis. |
| Q100567127 | Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| Q112812667 | One is the loneliest number: genotypic matchmaking using the electronic health record |
| Q28544012 | Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits |
| Q33987140 | PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy |
| Q42616043 | Phenotype sequencing: identifying the genes that cause a phenotype directly from pooled sequencing of independent mutants |
| Q33756975 | Phenotypic and genetic analysis of a large family with migraine-associated vertigo |
| Q36661862 | Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations |
| Q57323056 | Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13 |
| Q92738760 | Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human |
| Q46045376 | Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population |
| Q40233143 | Primary glioblastomas express mesenchymal stem-like properties |
| Q24677069 | Progressive ataxia due to a missense mutation in a calcium-channel gene |
| Q35048997 | Protective properties of radio-chemoresistant glioblastoma stem cell clones are associated with metabolic adaptation to reduced glucose dependence. |
| Q34598912 | Proteinase and growth factor alterations revealed by gene microarray analysis of human diabetic corneas |
| Q37347882 | Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways |
| Q28274064 | Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia |
| Q37117250 | Reciprocal Regulation of the Cardiac Epigenome by Chromatin Structural Proteins Hmgb and Ctcf: IMPLICATIONS FOR TRANSCRIPTIONAL REGULATION. |
| Q33370030 | Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis |
| Q46411236 | Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2. |
| Q24530782 | Replication of autism linkage: fine-mapping peak at 17q21. |
| Q40095012 | Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome |
| Q55000730 | Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse. |
| Q21092481 | Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays |
| Q35823287 | Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients. |
| Q30360180 | Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. |
| Q40422677 | Robustness of gene expression profiling in glioma specimen samplings and derived cell lines. |
| Q24316126 | SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function |
| Q92007890 | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals |
| Q43146100 | Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia |
| Q33787339 | SeqWare Query Engine: storing and searching sequence data in the cloud |
| Q38308841 | Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse |
| Q35048190 | Sex chromosome anomalies in childhood onset schizophrenia: an update. |
| Q57118433 | Sex-specific influence of DRD2 on ADHD-type temperament in a large population-based birth cohort |
| Q29615977 | Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning |
| Q36318762 | Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia |
| Q33599056 | Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone |
| Q50475690 | Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. |
| Q33725972 | Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA. |
| Q91071850 | Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models |
| Q46465933 | Temperament and character profiles and the dopamine D4 receptor gene in ADHD. |
| Q54466203 | The case for eteplirsen: Paving the way for precision medicine. |
| Q32884479 | The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition |
| Q30418605 | Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. |
| Q34286904 | Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5. |
| Q30390611 | Truncating mutations in APP cause a distinct neurological phenotype. |
| Q21144984 | U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line |
| Q91255658 | Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse |
| Q49922672 | Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features |
| Q28080926 | What can Duchenne Connect teach us about treating Duchenne muscular dystrophy? |
| Q37525938 | Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. |
| Q34222369 | Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome |
| Q87242657 | X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings |
| Q24316144 | ZBED4, a BED-type zinc-finger protein in the cones of the human retina |
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