SIFT: predicting amino acid changes that affect protein function

• Evaluation of single-nucleotide variants in bladder cancer using prediction algorithms

  2025 Die Pathologie article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases

  0

  citations
• Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

  2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  2

  citations
• Next-Generation Sequencing Reveals the Potential Role of RET Protooncogene in Metastasis Progression in Medullary Thyroid Cancer

  2025 Current Issues in Molecular Biology article Medicine Thyroid Cancer Diagnosis and Treatment Open access

  0

  citations
• Systematic review and independent validation of genetic factors of radiographic outcome in rheumatoid arthritis identifies a genome-wide association with CARD9

  2025 Annals of the Rheumatic Diseases review Medicine Rheumatoid Arthritis Research and Therapies Open access

  1

  citations
• Correcting for Observation Bias in Cancer Progression Modeling

  2024 Journal of Computational Biology article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics

  2

  citations
• Saturation genome editing of BAP1 functionally classifies somatic and germline variants

  2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  58

  citations
• Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome

  2024 JCI Insight article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  9

  citations
• A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis

  2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access

  3

  citations
• Deep structured learning for variant prioritization in Mendelian diseases

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  46

  citations
• Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

  2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  15

  citations
• Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life

  2022 ˜The œNephron journals/Nephron journals article Medicine Potassium and Related Disorders Open access

  9

  citations
• Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

  2021 Blood Advances article Medicine Platelet Disorders and Treatments Open access

  29

  citations
• No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

  2021 Journal of Clinical Medicine article Medicine Genetic factors in colorectal cancer Open access

  18

  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
• Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

  2020 Diabetes article Neuroscience Regulation of Appetite and Obesity Open access

  57

  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

18 results