All Stories

  1. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Article • The American Journal of Human Genetics, May 2019, Elsevier

    Dr Mohammed A Al Balwi

  2. Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009–2011 pandemic season

    Article • Journal of Infection and Public Health, February 2019, Elsevier

    Dr Mohammed A Al Balwi

  3. Oxidative stress, caloric intake and outcomes of critically ill patients

    Article • Clinical Nutrition ESPEN, February 2019, Elsevier

    Dr Mohammed A Al Balwi

  4. Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

    Article • PLoS ONE, January 2019, PLOS

    Dr Mohammed A Al Balwi, Yaseen Arabi

  5. Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial

    Article • Scientific Reports, December 2018, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  6. Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

    Article • Journal of Global Oncology, November 2018, American Society of Clinical Oncology (ASCO)

    Dr Mohammed A Al Balwi

  7. Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

    Article • BMC Medical Genetics, September 2018, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  8. KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

    Article • American Journal of Medical Genetics Part A, May 2018, Wiley

    Dr Mohammed A Al Balwi

  9. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

    Article • Genetics in Medicine, March 2018, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  10. Tetrasomy 18p: case report and review of literature

    Article • The Application of Clinical Genetics, February 2018, Dove Medical Press

    Majid ALFADHEL, Dr Mohammed A Al Balwi, Maha Alshalan

  11. HLA class II polymorphism in Saudi patients with multiple sclerosis

    Article • HLA, December 2017, Wiley

    Dr Mohammed A Al Balwi

  12. Isolation and characterization of a new naturally immortalized human breast carcinoma cell line, KAIMRC1

    Article • BMC Cancer, November 2017, Springer Science + Business Media

    Dr Ahmed S Alaskar, Dr Mohammed A Al Balwi

  13. Histopathology of Middle East respiratory syndrome coronovirus (MERS-CoV) infection - clinicopathological and ultrastructural study

    Article • Histopathology, November 2017, Wiley

    Dr Mohammed A Al Balwi

  14. Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile

    Article • Virology Journal, November 2017, Springer Science + Business Media

    Dr Mohammed A Al Balwi, Professor Dr. Amen Ahmed Bawazir

  15. The prevalence of CCR5-Δ32 mutation in a cohort of Saudi stem cell donors

    Article • HLA, August 2017, Wiley

    Dr Mohammed A Al Balwi, Dr Ahmed S Alaskar

  16. Ibrutinib therapy is effective in B-cell prolymphocytic leukemia exhibiting MYC aberrations

    Article • Leukemia & Lymphoma, July 2017, Taylor & Francis

    Dr Mohammed A Al Balwi

  17. Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples

    Article • BMC Pediatrics, July 2017, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  18. P121 DR

    Article • Human Immunology, September 2016, Elsevier

    Dr Mohammed A Al Balwi

  19. Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients

    Article • Cancer Genetics, April 2016, Elsevier

    Dr Mohammed A Al Balwi

  20. Genetic variation among multiple sclerosis in Saudi patients

    Article • Journal of the Neurological Sciences, October 2015, Elsevier

    Dr Mohammed A Al Balwi

  21. Two novel homozygous missense mutations in theGDF5gene cause brachydactyly type C

    Article • American Journal of Medical Genetics Part A, March 2015, Wiley

    Dr Mohammed A Al Balwi

  22. Distinctive Features of a Saudi Genome

    Article • March 2015, Cold Spring Harbor Laboratory Press

    Dr Mohammed A Al Balwi

  23. A novel homozygous mutation in theSLCO2A1gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

    Article • International Journal of Dermatology, January 2015, Wiley

    Dr Mohammed A Al Balwi

  24. Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability

    Article • Pediatric Neurology, April 2014, Elsevier

    Dr Mohammed A Al Balwi

  25. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

    Article • The Journal of Pediatrics, March 2014, Elsevier

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  26. 82-P

    Article • Human Immunology, November 2013, Elsevier

    Dr Mohammed A Al Balwi

  27. 139-P

    Article • Human Immunology, November 2013, Elsevier

    Dr Mohammed A Al Balwi

  28. Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3

    Article • Journal of Medical Genetics, September 2013, BMJ

    Dr Mohammed A Al Balwi

  29. HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in Saudis using next generation sequencing technique

    Article • Tissue Antigens, September 2013, Wiley

    Dr Mohammed A Al Balwi

  30. A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

    Article • Gene, September 2013, Elsevier

    Dr Mohammed A Al Balwi

  31. The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

    Article • Gene, September 2013, Elsevier

    Dr Mohammed A Al Balwi

  32. Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr Mohammed A Al Balwi

  33. Mucolipidosis II: first report from Saudi Arabia

    Article • Annals of Saudi Medicine, August 2013, King Faisal Specialist Hospital and Research Centre

    Dr Mohammed A Al Balwi

  34. Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics

    Article • Gene, July 2013, Elsevier

    Dr Mohammed A Al Balwi

  35. Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Saudi Arabia

    Article • International Journal of Cancer, July 2013, Wiley

    Dr Mohammed A Al Balwi

  36. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

    Article • European Journal of Human Genetics, May 2013, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  37. Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura

    Article • Pediatric Blood & Cancer, May 2013, Wiley

    Dr Mohammed A Al Balwi

  38. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

    Article • Journal of Inherited Metabolic Disease, January 2013, Wiley

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  39. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  40. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

    Article • The American Journal of Human Genetics, December 2012, Elsevier

    Dr Mohammed A Al Balwi

  41. A novel mutation in theSHHlong-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

    Article • American Journal of Medical Genetics Part A, August 2012, Wiley

    Dr Mohammed A Al Balwi

  42. Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease

    Article • Multiple Sclerosis Journal, April 2012, SAGE Publications

    Dr Mohammed A Al Balwi

  43. Response to Letter by: Wiwanitkit

    Article • Journal of Infection and Public Health, September 2011, Elsevier

    Dr Mohammed A Al Balwi

  44. Validity of two rapid point of care influenza tests and direct fluorescence assay in comparison of real time PCR for swine of origin influenza virus

    Article • Journal of Infection and Public Health, March 2011, Elsevier

    Dr Mohammed A Al Balwi

  45. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

    Article • American Journal of Medical Genetics Part A, February 2011, Wiley

    Dr Mohammed A Al Balwi

  46. Familial Glucocorticoid Deficiency in Five Arab Kindreds with Homozygous Point Mutations of the ACTH Receptor (MC2R): Genotype and Phenotype Correlations

    Article • Hormone Research in Paediatrics, January 2011, Karger Publishers

    Dr Mohammed A Al Balwi

  47. Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

    Article • The American Journal of Human Genetics, March 2010, Elsevier

    Dr Mohammed A Al Balwi

  48. Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene

    Article • Annals of Saudi Medicine, January 2010, Medknow

    Dr Mohammed A Al Balwi

  49. Novel human pathological mutations

    Article • Human Genetics, June 2009, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  50. Congenital Duplication of the Palm Syndrome: Gene Analysis and the Molecular Basis of its Clinical Features

    Article • Journal of Hand Surgery (European Volume), March 2009, SAGE Publications

    Dr Mohammed A Al Balwi

  51. Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report

    Article • Cases Journal, January 2009, Springer Science + Business Media

    Dr Mohammed A Al Balwi

  52. The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly

    Article • Developmental Cell, November 2007, Elsevier

    Dr Mohammed A Al Balwi

  53. Congenital Duplication of the Palm Syndrome

    Article • Annals of Plastic Surgery, September 2007, Wolters Kluwer Health

    Dr Mohammed A Al Balwi

  54. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

    Article • BMC Medical Genetics, May 2005, Springer Science + Business Media

    Dr Mohammed A Al Balwi