Predicting Deleterious Amino Acid Substitutions

• Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes

  2026 Journal of Neurology article Medicine Traumatic Brain Injury Research Open access

  0

  citations
• Investigating vulnerability to concussion through rare ion channel and neurotransmitter genetic variants

  2026 Research Square preprint Medicine Traumatic Brain Injury Research Open access

  0

  citations
• Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

  2025 Human Genetics and Genomics Advances article Medicine Genetic factors in colorectal cancer Open access

  1

  citations
• Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation

  2024 Molecular Psychiatry article Psychology Eating Disorders and Behaviors Open access

  4

  citations
• Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

  2024 medRxiv preprint Medicine Genetic factors in colorectal cancer Open access

  1

  citations
• Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

  2024 Blood article Medicine Blood properties and coagulation Open access

  17

  citations
• Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

  2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access

  28

  citations
• Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

  2023 medRxiv preprint Medicine Blood properties and coagulation Open access

  1

  citations
• Additional file 1 of Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

  2023 Figshare dataset Medicine Ovarian function and disorders Open access

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  citations
• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

  2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access

  25

  citations
• Functional evidence (II) protein and enzyme function

  2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases

  1

  citations

11 results