Publications

Journal Articles

  1. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 16(2), 135-143.
  2. & Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. Brain and Development
  3. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics 99(2), 287-298.
  4. et. al. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17(1)
  5. & Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics, ddv250
  6. et. al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine
  7. et. al. New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms. Journal of Biological Chemistry 288(47), 33745-33759.
  8. & Ethnicity can predict GLRA1 genotypes in hyperekplexia. Journal of Neurology, Neurosurgery & Psychiatry
  9. & Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. Epileptic Disorders 16(3), 354-357.
  10. & A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease
  11. & De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy. The American Journal of Human Genetics 94(4), 634-641.
  12. & Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52, 137-149.
  13. & Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy. Epilepsy & Behavior 26(3)-246.
  14. & Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136(2)-548.
  15. & Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain 136(10), 3085-3095.
  16. & GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics 22(5), 927-940.
  17. Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease. Journal of Biological Chemistry 287(34), 28975-28985.
  18. et. al. A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2. Journal of Biological Chemistry 287(34), 28986-29002.
  19. & Symptoms and Signs Associated with Syncope in Young People with Primary Cardiac Arrhythmias. Heart, Lung and Circulation 20(9), 593-598.
  20. & Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiology of Disease 43(1), 184
  21. & Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: A marker of severe KCNQ1 dysfunction?. Heart Rhythm 8(4), 551
  22. & Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm 7(4), 481
  23. & The glycinergic system in human startle disease: a genetic screening approach. Frontiers in Molecular Neuroscience-10.
  24. & Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. Journal of Neuroscience 30(28), 9612-9620.
  25. & Biophysical Properties of 9 KCNQ1 Mutations Associated With Long-QT Syndrome. Circulation: Arrhythmia and Electrophysiology 2(4), 417-426.
  26. & Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm 5(9), 1275
  27. A critical role for glycine transporters in hyperexcitability disorders. Frontiers in Molecular Neuroscience 1(1)-6.
  28. & Coinheritance of long QT syndrome and Kearns-Sayre syndrome. Heart Rhythm 4(12), 1568-1572.
  29. & Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm 4(10), 1306-1314.
  30. & Brugada Syndrome Masquerading as Febrile Seizures. PEDIATRICS 119(5), e1206-e1211.
  31. & Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics 38(7), 801-806.
  32. & Near-Miss SIDS due to Brugada Syndrome.. Archives of Disease in Childhood 90(528), 529

Book Chapters

  1. & Next Generation Sequencing Methodologies - An Overview. In Challenges and Opportunities of Next-Generation Sequencing for Biomedical Research. (pp. 1-26).
  2. & Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling. In (pp. 117-152).
  3. & Molecular Genetics of Arrhythmias, Chapter 16. In Clinical Cardiovascular Genetics: Principles and Practice.. (pp. 239Oxford University Press.