All Stories

  1. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

    Article • European Journal of Human Genetics, March 2023, Springer Science + Business Media

    Associate Professor Tawfiq Froukh

  2. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

    Article • The American Journal of Human Genetics, September 2022, Elsevier

    Associate Professor Tawfiq Froukh

  3. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

    Article • Journal of Medical Genetics, October 2021, BMJ

    Associate Professor Tawfiq Froukh

  4. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy

    Article • Clinical Genetics, July 2021, Wiley

    Associate Professor Tawfiq Froukh

  5. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Article • Genetics in Medicine, July 2021, Elsevier

    Associate Professor Tawfiq Froukh

  6. Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families

    Article • BMC Medical Genetics, September 2020, Springer Science + Business Media

    Associate Professor Tawfiq Froukh

  7. Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

    Article • Clinical Genetics, August 2020, Wiley

    Associate Professor Tawfiq Froukh

  8. Association between Gasdermin A and Gasdermin B polymorphisms and allergic rhinitis amongst Jordanians

    Article • Endocrine Metabolic & Immune Disorders - Drug Targets, June 2020, Bentham Science Publishers

    margaret zuriekat, tareq mahafza, Associate Professor Tawfiq Froukh

  9. Genetic basis of neurodevelopmental disorders in 103 Jordanian families

    Article • Clinical Genetics, February 2020, Wiley

    Associate Professor Tawfiq Froukh

  10. Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene

    Article • Pakistan Journal of Medical Sciences, October 2019, Pakistan Journal of Medical Sciences

    Associate Professor Tawfiq Froukh

  11. Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14

    Article • Current Molecular Medicine, July 2019, Bentham Science Publishers

    Associate Professor Tawfiq Froukh

  12. First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

    Article • BioMed Research International, January 2019, Hindawi Publishing Corporation

    Associate Professor Tawfiq Froukh

  13. Two cases of variant late infantile ceroid lipofuscinosis in Jordan

    Article • World Journal of Clinical Cases, January 2019, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Associate Professor Tawfiq Froukh

  14. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

    Article • JAMA Psychiatry, March 2017, American Medical Association (AMA)

    Associate Professor Tawfiq Froukh

  15. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan

    Article • The Tohoku Journal of Experimental Medicine, January 2017, Tohoku University Medical Press

    Associate Professor Tawfiq Froukh

  16. Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

    Article • The American Journal of Human Genetics, December 2016, Elsevier

    Associate Professor Tawfiq Froukh

  17. Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Article • The American Journal of Human Genetics, October 2016, Elsevier

    Associate Professor Tawfiq Froukh

  18. Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians

    Article • Genetic Testing and Molecular Biomarkers, March 2016, Mary Ann Liebert Inc

    Professor Nathir Mefleh Obeidat, Associate Professor Tawfiq Froukh

  19. Association Between ADAM33 Polymorphisms and Susceptibility with Adult and Childhood Asthma Among Jordanians

    Article • Genetic Testing and Molecular Biomarkers, November 2014, Mary Ann Liebert Inc

    Professor Nathir Mefleh Obeidat, Associate Professor Tawfiq Froukh

  20. Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians

    Article • Gene, December 2013, Elsevier

    Professor Nathir Mefleh Obeidat, Associate Professor Tawfiq Froukh

  21. Species boundaries and evolutionary lineages in the blue green damselfishes Chromis viridis and Chromis atripectoralis (Pomacentridae)

    Article • Journal of Fish Biology, February 2008, Wiley

    Associate Professor Tawfiq Froukh

  22. Genetic population structure of the endemic fourline wrasse (Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea

    Article • Molecular Ecology, February 2007, Wiley

    Associate Professor Tawfiq Froukh