| The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource |
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| Jagged1 (<i>JAG1</i>) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate |
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| General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses |
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| Making Sense of Unclassified Missense Substitutions in MMR Genes |
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| Whole Exome Sequencing as a Tool for Autozygosity Mapping |
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| Comprehensive Functional Assessment of<i>MLH1</i>Variants of Unknown Significance |
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| Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency |
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| Functional Characterization of Novel Mutations Affecting Survivin (BIRC5)-Mediated Therapy Resistance in Head and Neck Cancer Patients |
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| The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes |
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| High-Specificity Single-Tube Multiplex Genotyping Using Ribo-PAP PCR, Tag Primers, Alkali Cleavage of RNA/DNA Chimeras and MALDI-TOF MS |
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| Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1 |
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| Mutations in<i>NLRP</i>7 and<i>KHDC</i>3<i>L</i>Confer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions |
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| Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous<i>ATR</i>Mutations |
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| Autozygosity Mapping with Exome Sequence Data |
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| A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease |
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| Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome |
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| Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity |
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| Statistical Analysis of Missense Mutation Classifiers |
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| <i>FLT</i><i>4</i>/<i>VEGFR</i><i>3</i>and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update |
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| KDM6A Point Mutations Cause Kabuki Syndrome |
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| Unilateral Cryptorchidism in Mice Mutant for<i>Ptgds</i> |
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| Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation |
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| Functional Analysis of Missense Mutations of<i>OAT</i>, Causing Gyrate Atrophy of Choroid and Retina |
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| Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies |
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| Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs |
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| A homozygous missense mutation in<i>HERC2</i>associated with global developmental delay and autism spectrum disorder |
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| The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease |
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| Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome |
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| Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability |
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| Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene<i>SLX</i><i>4</i>/<i>FANCP</i> |
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| Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models |
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| Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis |
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| The Facial Evolution: Looking Backward and Moving Forward |
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| A Novel<i>RAB33B</i>Mutation in Smith-McCort Dysplasia |
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| Classic EDS: Simply a type v collagen deficiency story? |
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| Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of<i>SRCAP</i> |
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| Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis |
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| A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Regi |
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| Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation |
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| Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions |
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| General Olfactory Sensitivity Database (GOSdb): Candidate Genes and their Genomic Variations |
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| Analysis of the<i>C</i><i>9orf72</i>Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide |
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| A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo |
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| Genetic Variant on<i>PDGFRL</i>Associated with Behçet Disease in Chinese Han Populations |
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| JP-45/<i>JSRP</i><i>1</i>Variants Affect Skeletal Muscle Excitation-Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor |
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| Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics |
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| Functional Assessment of<i>TSC</i>2 Variants Identified in Individuals with Tuberous Sclerosis Complex |
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| VariBench: A Benchmark Database for Variations |
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| Mutation Analysis of the<i>IL</i><i>36</i><i>RN</i>Gene in 14 Japanese Patients with Generalized Pustular Psoriasis |
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✓ |
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Japanese |
| Analysis of the Novel Fanconi Anemia Gene<i>SLX4</i>/<i>FANCP</i>in Familial Breast Cancer Cases |
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| A Novel Deletion in<i>SMPX</i>Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect |
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| Databases for neurogenetics: Introduction, overview, and challenges |
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| Investigation of the Relationship Between Prostate Cancer and<i>MSMB</i>and<i>NCOA4</i>Genetic Variants and Protein Expression |
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| Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles |
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| Mutations of<i>ANK3</i>identified by exome sequencing are associated with autism susceptibility |
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| Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism |
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| Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility |
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| Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease |
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| Joint Analysis of SNPs and Proteins Identifies Regulatory<i>IL18</i>Gene Variations Decreasing the Chance of Spastic Cerebral Palsy |
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| Identification of recurrent type-2<i>NF1</i>microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder |
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| Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future |
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| Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β |
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| Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa |
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| ALX4 gain-of-function mutations in nonsyndromic craniosynostosis |
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| Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers |
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| CNVD: Text mining-based copy number variation in disease database |
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| Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (<i>NF1</i>) gene |
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| Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics |
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies |
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| Tandem repeat polymorphisms as modulators of biological function and dysfunction |
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| In memory of David L. Rimoin, MD, PhD (1936-2012) |
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| Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci |
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| Functional analysis of<i>TCF4</i>missense mutations that cause Pitt-Hopkins syndrome |
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| Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities |
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| Review and update of<i>SPRED1</i>mutations causing legius syndrome |
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| Developing the “next generation” of genetic association databases for complex diseases |
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| A guide for functional analysis of<i>BRCA1</i>variants of uncertain significance |
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| A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry |
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| Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome |
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| Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations |
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| ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics |
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| Identification of fifteen novel germline variants in the<i>BRCA1</i>3′UTR reveals a variant in a breast cancer case that introduces a functional<i>miR-103</i>target site |
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| Functional characterization of<i>MLH1</i>missense variants identified in lynch syndrome patients |
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| Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinases |
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| Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of<i>COL1A1</i>and<i>COL1A2</i>point mutations and large rearrangements: Application for diagnosis of osteo |
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| Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias |
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| Human variome project country nodes: Documenting genetic information within a country |
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| Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease |
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| Absence of<i>FKBP10</i>in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix |
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| The Genome Generation by Elizabeth Finkel |
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| Comprehensive functional assessment of<i>MLH1</i>variants of unknown significance |
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| Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain |
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| Improving the rigor of mutation reports: Biologic parentage and de novo mutations |
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| The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms |
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| Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria |
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| The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics |
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| Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum |
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| ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application |
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| Molecular characterization of Joubert syndrome in Saudi Arabia |
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| <i>CFTR</i>mutation combinations producing frequent complex alleles with different clinical and functional outcomes |
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| Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations |
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| Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients |
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| Influence of genetic variation on alternate<i>MUTYH</i>transcript isoforms |
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| How real are our data? Copy number variation in lymphoblastoid and other cell lines |
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| The mechanism of BH4-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model |
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| Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants |
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| Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1) |
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| Conserved and quickly evolving immunome genes have different evolutionary paths |
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| PRRT2 Mutations are the major cause of benign familial infantile seizures |
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| Solving bottlenecks in data sharing in the life sciences |
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| Gaucher disease paradigm: From ERAD to comorbidity |
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| Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations |
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| Identification of novel rare mutations of DACT1 in human neural tube defects |
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| Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 |
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| Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity |
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| Paralogous annotation of disease-causing variants in long QT syndrome genes |
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| Locus‐specific mutation databases for neurodegenerative brain diseases |
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| Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients |
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| Toward a mtDNA locus-specific mutation database using the LOVD platform |
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| Ontological phenotype standards for neurogenetics |
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| Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis |
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| Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease |
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| Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB |
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| The use of arrays to detect copy-number variations in clinical practice |
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| Retinitis pigmentosa: More genes, more variants, more work |
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| Reading through nonsense as therapy for propionic acidemia? |
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| Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees |
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| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis |
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| Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9 |
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| Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis |
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| A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome |
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| LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix |
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| Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase |
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| SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations |
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| Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients |
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| NGS catalog: A database of next generation sequencing studies in humans |
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| PON-P: Integrated predictor for pathogenicity of missense variants |
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| Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer |
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| Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells |
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| A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) |
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| Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants |
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| Deep phenotyping for precision medicine |
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| A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia |
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| A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/<i>LMBR1</i>) causes preaxial polydactyly with triphalangeal thumb |
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| Splice site, frameshift, and chimeric<i>GFAP</i>mutations in Alexander disease |
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| SURF1-associated leigh syndrome: A case series and novel mutations |
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| Systematic analysis and functional annotation of variations in the genome of an Indian individual |
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| Mutation update on the CHD7 gene involved in CHARGE syndrome |
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| Inherited deleterious variants in<i>GALNT12</i>are associated with CRC susceptibility |
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| 11q13 is a susceptibility locus for hormone receptor positive breast cancer |
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| More single-nucleotide mutations surround small insertions than small deletions in primates |
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| Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development |
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| Insertion of an SVA element, a nonautonomous retrotransposon, in<i>PMS2</i>intron 7 as a novel cause of lynch syndrome |
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| Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene |
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| Frameshift mutation in p53 regulator<i>RPL26</i>is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia |
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| Deep intronic<i>APC</i>mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis |
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| Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics |
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| Back to the future: From genome to metabolome |
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| Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics |
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| Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information |
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| Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus |
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| Rett networked database: An integrated clinical and genetic network of rett syndrome databases |
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| Using PhenX measures to identify opportunities for cross-study analysis |
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| Deep sequencing of the<i>LRRK2</i>gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe |
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| Integration of global resources for human genetic variation and disease |
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| Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users |
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| Mouse genetic and phenotypic resources for human genetics |
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| Actin out with filamin: Two sides of the story |
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| KMD: A country-specific genetic variation resource for Korea |
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| Exome and whole-genome sequencing for gene discovery: The future is now! |
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| Knowledge engineering for health: A new discipline required to bridge the “ICT gap” between research and healthcare |
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| Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent |
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| Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders |
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| ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information |
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| Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy |
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| Chromosomal variation in lymphoblastoid cell lines |
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies |
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| Ribo-polymerase chain reaction-A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing |
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| Genome-wide arrays in routine diagnostics of hematological malignancies |
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| Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death |
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| <i>MUTYH</i>gene expression and alternative splicing in controls and polyposis patients |
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| A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2 |
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| Mutations in the prostaglandin transporter encoding gene<i>SLCO2A1</i>Cause primary hypertrophic osteoarthropathy and isolated digital clubbing |
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| The introduction of arrays in prenatal diagnosis: A special challenge |
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| Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions |
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| An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening |
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| Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis |
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| Next-generation sequencing demands next-generation phenotyping |
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| MouseFinder: Candidate disease genes from mouse phenotype data |
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| Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience |
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| Large-scale objective phenotyping of 3D facial morphology |
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| Looks normal, but may not function properly: A “new” mouse model for primary ciliary dyskinesia |
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| Olfactory cells aid in the understanding of neurodegenerative disorders |
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| Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia |
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| Diagnostic interpretation of array data using public databases and internet sources |
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| Next‐generation genetic testing for retinitis pigmentosa |
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| The androgen receptor gene mutations database: 2012 update |
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| KMD: Korean mutation database for genes related to diseases |
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| An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia |
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| Analysis of DNA sequence variants detected by high-throughput sequencing |
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| Classification of mismatch repair gene missense variants with PON-MMR |
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| Confirmation of association of<i>FCGR3B</i>but not<i>FCGR3A</i>copy number with susceptibility to autoantibody positive rheumatoid arthritis |
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| Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features |
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| Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells |
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| VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance |
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| Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study |
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| Assessing the Enrichment Performance in Targeted Resequencing Experiments |
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| Detecting false-positive signals in exome sequencing |
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| Maps for the world of genomic medicine: The 2011 CSHL Personal Genomes meeting |
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| Ovarian cancer susceptibility alleles and risk of ovarian cancer in<i>BRCA1</i>and<i>BRCA2</i>mutation carriers |
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| Transcriptional hallmarks of noonan syndrome and noonan‐like syndrome with loose anagen hair |
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| Nonsynonymous variants in the<i>SMAD6</i>gene predispose to congenital cardiovascular malformation |
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| <i>SEPT12</i>mutations cause male infertility with defective sperm annulus |
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| A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling<i>CrebA</i>knockout mouse |
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| <i>PCDH19</i>-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder |
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| Common <i>CFTR</i>
haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens |
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| Planar cell polarity gene mutations in severe neural tube defects |
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| Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer |
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| Rare germline mutations in<i>PALB2</i>and breast cancer risk: A population-based study |
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| Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss |
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| Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study |
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| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database |
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| Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array |
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| Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip |
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| Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting |
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| Genome-wide and gene-based association implicates FRMD6 in alzheimer disease |
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| Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells |
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| Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity |
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| Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells |
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| A frequent somatic mutation in CD274 3′-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding |
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| HGV2011: Personalized genomic medicine meets the incidentalome |
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| Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations |
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| Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex |
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| Non-USH2A mutations in USH2 patients |
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| Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease |
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