Siddharth Banka

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. doi request reprint Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations
    Siddharth Banka
    Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre MAHSC, Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK Electronic address
    Mol Genet Metab 113:301-6. 2014
  2. pmc A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
    Siddharth Banka
    Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK
    Orphanet J Rare Dis 8:84. 2013
  3. doi request reprint Trisomy 18 mosaicism: report of two cases
    Siddharth Banka
    Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
    World J Pediatr 9:179-81. 2013
  4. doi request reprint MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
    S Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Clin Genet 83:467-71. 2013
  5. doi request reprint G6PC3 mutations cause non-syndromic severe congenital neutropenia
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, and St Mary s Hospital, Manchester, M13 9WL, UK
    Mol Genet Metab 108:138-41. 2013
  6. doi request reprint Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia
    Siddharth Banka
    Academic Unit of Medical Genetics, University of Manchester, Manchester, UK
    J Pediatr Hematol Oncol 32:319-22. 2010
  7. pmc Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    Siddharth Banka
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 19:18-22. 2011
  8. doi request reprint Pernicious anemia - genetic insights
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, M13 9WL, UK
    Autoimmun Rev 10:455-9. 2011
  9. doi request reprint A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK
    Am J Med Genet A 155:1453-7. 2011
  10. pmc How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Siddharth Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Eur J Hum Genet 20:381-8. 2012

Collaborators

Detail Information

Publications18

  1. doi request reprint Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations
    Siddharth Banka
    Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre MAHSC, Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK Electronic address
    Mol Genet Metab 113:301-6. 2014
    ..Lastly, in silico protein structural analysis shows that the p.Ser160Leu mutation is predicted to interfere with TPK dimerization, which may be a novel mechanism for the disease. ..
  2. pmc A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
    Siddharth Banka
    Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK
    Orphanet J Rare Dis 8:84. 2013
    ..Routine assessment should include biochemical profile, growth profile and monitoring for development of varicose veins or venous ulcers. ..
  3. doi request reprint Trisomy 18 mosaicism: report of two cases
    Siddharth Banka
    Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
    World J Pediatr 9:179-81. 2013
    ..Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease...
  4. doi request reprint MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
    S Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Clin Genet 83:467-71. 2013
    ..The prevalence of such MLL2 mutations in KS may be comparable with deletions involving KDM6A. These findings may be helpful in understanding the mutational mechanism of MLL2 and the disease mechanism of KS...
  5. doi request reprint G6PC3 mutations cause non-syndromic severe congenital neutropenia
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, and St Mary s Hospital, Manchester, M13 9WL, UK
    Mol Genet Metab 108:138-41. 2013
    ..Additionally, we show a relationship between the genotype and non-hematological phenotype of G6PC3 deficiency. These findings may provide an insight into the role of the G6PC3 enzyme and glucose metabolism in developmental pathways...
  6. doi request reprint Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia
    Siddharth Banka
    Academic Unit of Medical Genetics, University of Manchester, Manchester, UK
    J Pediatr Hematol Oncol 32:319-22. 2010
    ..We highlight the factors determining the outcome and situations where raised index of suspicion could help in recognizing this preventable cause of developmental delay and learning difficulties...
  7. pmc Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    Siddharth Banka
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 19:18-22. 2011
    ..Delineation of the SCN4 phenotype may help in appropriate treatment and management and provide further insights into the pathogenesis of this multisystem disease...
  8. doi request reprint Pernicious anemia - genetic insights
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, M13 9WL, UK
    Autoimmun Rev 10:455-9. 2011
    ..Further, we consider how knowledge of the genetic susceptibility to other autoimmune diseases may provide insight into the etiology of PA...
  9. doi request reprint A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK
    Am J Med Genet A 155:1453-7. 2011
    ..1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function...
  10. pmc How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Siddharth Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Eur J Hum Genet 20:381-8. 2012
    ..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
  11. pmc Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report
    Gregory J Fitzgibbon
    Regional Cytogenetics Unit, Saint Mary s Hospital, Manchester, UK
    J Med Case Rep 2:355. 2008
    ....
  12. doi request reprint Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
    Siddharth Banka
    Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre MAHSC, Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK
    Ann Rheum Dis 74:1249-56. 2015
    ..Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis...
  13. doi request reprint Mutations in the G6PC3 gene cause Dursun syndrome
    Siddharth Banka
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Am J Med Genet A 152:2609-11. 2010
    ..We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature...
  14. doi request reprint Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia
    Terri P McVeigh
    aDepartment of Clinical Genetics, Our Lady s Children s Hospital Crumlin, Dublin, Ireland bDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester cDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, St Mary s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
    Clin Dysmorphol 24:135-9. 2015
    ..Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable. ..
  15. pmc Further delineation of the KAT6B molecular and phenotypic spectrum
    Tamsin Gannon
    Manchester Centre for Genomic Medicine, University of Manchester, St Mary s Hospital, Manchester Academic Health Science Centre, Manchester, UK
    Eur J Hum Genet 23:1165-70. 2015
    ..We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed. ..
  16. pmc Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients
    Mitra Tavakoli
    Division of Cardiovascular Medicine, University of Manchester and Wellcome Trust Clinical Research Facility, Manchester, UK
    Muscle Nerve 46:698-704. 2012
    ..We established alterations in C-fiber bundles of the cornea in patients with CMT1A using non-invasive corneal confocal microscopy (CCM)...
  17. pmc Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
    Emma M M Burkitt Wright
    Genetic Medicine Research Group, Manchester Biomedical Research Centre, Manchester Academic Health Sciences Centre, University of Manchester and Central Manchester Foundation Trust, St Mary s Hospital, Manchester M13 9WL, UK
    Am J Hum Genet 88:767-77. 2011
    ..We show that ZNF469 and PRDM5, two genes that when mutated cause BCS, participate in the same regulatory pathway...
  18. pmc Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
    Siddharth Banka
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, St Mary s Hospital, University of Manchester, Manchester, UK
    Am J Hum Genet 88:216-25. 2011
    ..Moreover, this relationship provides insight into the role of folates in neurological conditions, including depression, Alzheimer disease, and Parkinson disease...