| Q92105325 | A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases |
| Q92432192 | A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes |
| Q90501730 | A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor |
| Q90356350 | A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions |
| Q57168083 | A non-functional galanin receptor-2 in a multiple sclerosis patient |
| Q90638441 | A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function |
| Q92543469 | A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage |
| Q88887070 | A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay |
| Q64990080 | A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. |
| Q47326159 | A novel mutation in SLC1A3 causes episodic ataxia. |
| Q49330334 | A phenotype centric benchmark of variant prioritisation tools |
| Q91224176 | A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion |
| Q64113107 | A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks |
| Q92995898 | AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature |
| Q47549407 | An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A. |
| Q92313646 | Application of Computational Biology and Artificial Intelligence Technologies in Cancer Precision Drug Discovery |
| Q91796131 | Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease |
| Q91894386 | Benchmarking subcellular localization and variant tolerance predictors on membrane proteins |
| Q98184258 | Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism |
| Q58106112 | CADD: predicting the deleteriousness of variants throughout the human genome |
| Q91979959 | CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation |
| Q57920932 | Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly |
| Q91631549 | Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders |
| Q59798411 | Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase |
| Q92831842 | Characterization of intellectual disability and autism comorbidity through gene panel sequencing |
| Q64120476 | ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis |
| Q57023939 | ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants |
| Q64248808 | Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases |
| Q92234233 | Clinical and molecular findings in a cohort of ANO5-related myopathy |
| Q64992325 | Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. |
| Q90451566 | Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta |
| Q47840577 | Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy |
| Q64102665 | Compound Heterozygous Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea |
| Q52602398 | Comprehensive Characterization of Cancer Driver Genes and Mutations. |
| Q89807400 | Comprehensive assessment of computational algorithms in predicting cancer driver mutations |
| Q55603579 | Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. |
| Q57170230 | Computational resources associating diseases with genotypes, phenotypes and exposures |
| Q38789144 | DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins |
| Q89462013 | De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus |
| Q47842300 | De novo mutations in GRIN1 cause extensive bilateral polymicrogyria |
| Q54957597 | De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. |
| Q50098318 | De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism |
| Q90585555 | Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease |
| Q47806929 | Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. |
| Q64226854 | Developmental delay, coarse facial features, and epilepsy in a patient with gene variants |
| Q60922264 | Diagnosing rare diseases after the exome |
| Q57464842 | Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer |
| Q100526185 | Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions |
| Q92564494 | Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes |
| Q89729729 | EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation |
| Q89996164 | Early-onset emphysema in a large French-Canadian family: a genetic investigation |
| Q92132857 | Effect of BTD gene variants on in vitro biotinidase activity |
| Q93087322 | Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease |
| Q47137446 | Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines |
| Q91674591 | Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants |
| Q47388249 | Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. |
| Q52331561 | Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort. |
| Q57066262 | Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture |
| Q64119092 | Exome Analysis Identifies a Novel Compound Heterozygous Alteration in Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation |
| Q47439347 | Exome Pool-Seq in neurodevelopmental disorders. |
| Q33624200 | Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. |
| Q64108431 | Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls |
| Q47710148 | Exome-Wide Association Study of Pancreatic Cancer Risk |
| Q64251441 | Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome |
| Q42694057 | FIRE: functional inference of genetic variants that regulate gene expression |
| Q64115144 | Functional characterization of 3D protein structures informed by human genetic diversity |
| Q90859747 | Functional characterization of 84 PALB2 variants of uncertain significance |
| Q92783676 | Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes |
| Q48157087 | GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. |
| Q64039293 | GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data |
| Q64120151 | Genetic analysis of neurodegenerative diseases in a pathology cohort |
| Q92868822 | Genome sequencing for rightward hemispheric language dominance |
| Q92330801 | Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report |
| Q45063174 | Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy |
| Q47784210 | Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas |
| Q43086692 | Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas |
| Q41637022 | Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas |
| Q91346646 | High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering |
| Q46235696 | High-Throughput Characterization of Cascade type I-E CRISPR Guide Efficacy Reveals Unexpected PAM Diversity and Target Sequence Preferences |
| Q98303251 | Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles |
| Q64272238 | How good are pathogenicity predictors in detecting benign variants? |
| Q38609392 | Identification of NCAN as a candidate gene for developmental dyslexia |
| Q93163315 | Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia |
| Q91100012 | Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures |
| Q91219244 | Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency |
| Q55387060 | Impact of lower uterine segment involvement in type II endometrial cancer and the unique mutational profile of serous tumors. |
| Q59126521 | Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease |
| Q104111130 | Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease |
| Q92921963 | In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification |
| Q52647099 | Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. |
| Q56376530 | LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study |
| Q64985303 | Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. |
| Q61118461 | Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella |
| Q89454665 | Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy |
| Q92565011 | MAPT p.V363I mutation: A rare cause of corticobasal degeneration |
| Q98181056 | MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants |
| Q100294994 | MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease |
| Q47257087 | Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. |
| Q47597712 | Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features |
| Q90431767 | Modification of the PROM1 disease phenotype by a mutation in ABCA4 |
| Q92901570 | Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease |
| Q42368959 | Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. |
| Q93120440 | Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations |
| Q59136205 | Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant |
| Q64096925 | Mutational load in carotid body tumor |
| Q57023903 | Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome |
| Q64040166 | NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations |
| Q59334977 | Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium |
| Q93105834 | New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth |
| Q91188042 | Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients |
| Q90661779 | Novel biallelic variants in MSTO1 associated with mitochondrial myopathy |
| Q58585109 | Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia |
| Q92557960 | Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features |
| Q60916870 | Novel mutations in the gene in Japanese patients with X-linked congenital retinoschisis |
| Q49603502 | PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. |
| Q92258187 | Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy |
| Q90635883 | Performance evaluation of pathogenicity-computation methods for missense variants |
| Q47570862 | Pharmacogenomics of CYP2C9: Functional and Clinical Considerations |
| Q104516310 | Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood |
| Q89575513 | Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization |
| Q62495272 | Predicting the clinical impact of human mutation with deep neural networks |
| Q98291826 | Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study |
| Q47286842 | Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes. |
| Q92264369 | QTG-Finder: A Machine-Learning Based Algorithm To Prioritize Causal Genes of Quantitative Trait Loci in Arabidopsis and Rice |
| Q89038112 | Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency |
| Q59349393 | Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation |
| Q33701488 | Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework |
| Q62659082 | S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing |
| Q64045373 | SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions |
| Q88682248 | Somatic mutation landscape of a meningioma and its pulmonary metastasis |
| Q90275876 | Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma |
| Q59830301 | Synergistic Interaction of HOXB13 and CIP2A Predisposes to Aggressive Prostate Cancer |
| Q41275372 | Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals |
| Q91727326 | Systematic discovery of conservation states for single-nucleotide annotation of the human genome |
| Q47861357 | Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. |
| Q53681753 | Targeted deep sequencing of gastric marginal zone lymphoma identified alterations of TRAF3 and TNFAIP3 that were mutually exclusive for MALT1 rearrangement. |
| Q64055522 | Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene |
| Q58802463 | Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study |
| Q96952509 | Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants |
| Q92191748 | Targeted sequencing of histologically defined serous endometrial cancer reflects prognosis and correlates with preoperative biopsy |
| Q52776227 | Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. |
| Q91052598 | The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders |
| Q60683707 | The Genetic Landscape of Diamond-Blackfan Anemia |
| Q36324942 | The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies |
| Q52753945 | The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease. |
| Q89947923 | The genetics of situs inversus without primary ciliary dyskinesia |
| Q90159879 | The influence of rare variants in circulating metabolic biomarkers |
| Q56344652 | The landscape of epilepsy-related GATOR1 variants |
| Q64039834 | The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations |
| Q57818861 | Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review |
| Q90122590 | Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity |
| Q47097898 | VarCards: an integrated genetic and clinical database for coding variants in the human genome. |
| Q91202021 | Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants |
| Q91578685 | What went wrong with variant effect predictor performance for the PCM1 challenge |
| Q61448736 | Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease |
| Q89849814 | Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout |
| Q60946938 | Whole-Genome Sequencing Identifies a Novel Variation of Gene Coordinating With Heterozygous Germline Mutation of to Enhance Hepatoblastoma Oncogenesis |
| Q64041189 | Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis |
| Q58618483 | approach to identify non-synonymous SNPs with highest predicted deleterious effect on protein function in human obesity related gene, () |
| Q64039433 | eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics |