Molecular Genetics and Genomic Medicine

Journal

Publication Venue For

  • PMS2 variant results in loss of ATPase activity without compromising mismatch repair.  10. 2022
  • Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.  10. 2022
  • Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.  9. 2021
  • A study of elective genome sequencing and pharmacogenetic testing in an unselected population.  9. 2021
  • Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.  9. 2021
  • Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.  9. 2021
  • DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.  8. 2020
  • Gain of function in somatic TP53 mutations is associated with immune-rich breast tumors and changes in tumor-associated macrophages.  7. 2019
  • Genome-wide meta-analysis of SNP and antihypertensive medication interactions on left ventricular traits in African Americans.  7. 2019
  • Haplotype analysis of SERPINE1 gene: Risk for aneurysmal subarachnoid hemorrhage and clinical outcomes.  7. 2019
  • Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).  7. 2019
  • Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.  7:1-12. 2019
  • IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.  7. 2019
  • The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa.  4:548-556. 2016
  • Behavioral and transcriptomic profiling of mice null for Lphn3, a gene implicated in ADHD and addiction.  4:322-343. 2016
  • Copy number analysis of nipbl in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.  2:115-123. 2014
  • Genomic medicine: Educational challenges.  1:119-122. 2013

    • Electronic International Standard Serial Number (eissn)

  • 2324-9269