SIFT missense predictions for genomes

• Clastogenesis by nucleotide lesions requires the completion of two cell cycles

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access

  0

  citations
• 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
• Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype

  2024 Research Square preprint Medicine Obstructive Sleep Apnea Research Open access

  0

  citations
• A Damaging COL6A3 Variant Alters the MIR31HG ‐Regulated Response of Chondrocytes in Neocartilage Organoids to Hyperphysiologic Mechanical Loading

  2024 Advanced Science article Medicine Osteoarthritis Treatment and Mechanisms Open access

  18

  citations
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum

  2024 Nature Genetics article Medicine Hypothalamic control of reproductive hormones Open access

  59

  citations
• Understanding the genetic complexity of puberty timing across the allele frequency spectrum

  2023 medRxiv preprint Medicine Hypothalamic control of reproductive hormones Open access

  5

  citations
• Genome-wide association study reveals loci with sex-specific effects on plasma bile acids

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  0

  citations
• Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

  2022 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  15

  citations
• Genetic pain loss disorders

  2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents

  60

  citations
• Genome-Wide Analyses of Nephrotoxicity in Platinum-Treated Cancer Patients Identify Association with Genetic Variant in RBMS3 and Acute Kidney Injury

  2022 Journal of Personalized Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access

  11

  citations
• Circuit topology predicts pathogenicity of missense mutations

  2022 Proteins Structure Function and Bioinformatics article Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access

  10

  citations
• 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
• Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas

  2021 International Journal of Molecular Sciences article Medicine Lymphoma Diagnosis and Treatment Open access

  2

  citations
• The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations

  2021 Frontiers in Molecular Neuroscience article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access

  4

  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
• The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence from a Congenital Case with Compound Heterozygous SCN10A Mutations

  2020 Research Square preprint Neuroscience Autism Spectrum Disorder Research Open access

  0

  citations
• The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence from A Congenital Case with Compound Heterozygous SCN10A Mutations

  2020 preprint Neuroscience Autism Spectrum Disorder Research Open access

  0

  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

18 results