March 30, 2010 article Open access A method and server for predicting damaging missense mutations Nature Methods DOI: 10.1038/nmeth0410-248 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 59 stored of 13,788 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature 2022 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access 11 citations A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life 2022 The Nephron journals/Nephron journals article Medicine Potassium and Related Disorders Open access 9 citations Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate 2021 Brain article Medicine Cerebrovascular and genetic disorders Open access cited by 1 patent 37 citations Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization 2021 medRxiv preprint Medicine Cardiac electrophysiology and arrhythmias Open access 1 citations Comprehensive Molecular Analysis of Inflammatory Myofibroblastic Tumors Reveals Diverse Genomic Landscape and Potential Predictive Markers for Response to Crizotinib 2021 Clinical Cancer Research article Medicine IgG4-Related and Inflammatory Diseases Open access 21 citations Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 39 citations Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders 2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 53 citations A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration 2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 37 citations Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis 2021 Annals of Surgery article Medicine Pancreatitis Pathology and Treatment Open access 12 citations Functional evidence (II) protein and enzyme function 2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases 1 citations HER2 Status in High-Risk Endometrial Cancers (PORTEC-3): Relationship with Histotype, Molecular Classification, and Clinical Outcomes 2020 Cancers article Medicine Endometrial and Cervical Cancer Treatments Open access 103 citations Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients 2020 Journal of Bone and Mineral Research article Medicine Bone health and osteoporosis research Open access 19 citations Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial 2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 20 citations Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies 2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 25 citations Enhanced S-Cone Syndrome 2020 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 62 citations A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H 2020 Blood article Medicine Hemoglobinopathies and Related Disorders Open access 28 citations Testing association of rare genetic variants with resistance to three common antiseizure medications 2020 Epilepsia article Medicine Epilepsy research and treatment Open access 36 citations TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy 2020 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent 43 citations Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes 2020 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access 190 citations 41–59 of 59 ← Previous Page 3 / 3 References 0