All Stories

  1. Biallelic variants in consanguineous families causing neurodevelopmental disorders

    Article • Exploration of Neuroprotective Therapy, July 2026, Open Exploration Publishing

    Associate Professor Tawfiq Froukh

  2. A Foundational Exome Resource for Jordan: Dual Ancestry Admixture and Population-Specific Variants to Improve Clinical Variant Interpretation

    Article • May 2026, openRxiv

    Associate Professor Tawfiq Froukh

  3. Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

    Article • Nature Communications, April 2026, Springer Science + Business Media

    Associate Professor Tawfiq Froukh

  4. Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

    Article • The American Journal of Human Genetics, February 2025, Elsevier

    Dr. Jonasz Jeremiasz Weber, Associate Professor Tawfiq Froukh

  5. Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

    Article • Genetics in Medicine Open, January 2025, Elsevier

    Associate Professor Tawfiq Froukh

  6. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

    Article • Nature Communications, August 2024, Springer Science + Business Media

    Associate Professor Tawfiq Froukh, Dr Vykuntaraju K Gowda

  7. 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

  8. 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

  9. Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

    Article • August 2022, openRxiv

    Associate Professor Tawfiq Froukh, Dr Vykuntaraju K Gowda

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

    Article • Journal of Medical Genetics, October 2021, BMJ

    Associate Professor Tawfiq Froukh

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

    Article • Clinical Genetics, July 2021, Wiley

    Associate Professor Tawfiq Froukh

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

    Article • Genetics in Medicine, July 2021, Elsevier

    Associate Professor Tawfiq Froukh

  13. 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

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

    Article • Clinical Genetics, August 2020, Wiley

    Associate Professor Tawfiq Froukh

  15. 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

  16. Genetic basis of neurodevelopmental disorders in 103 Jordanian families

    Article • Clinical Genetics, February 2020, Wiley

    Associate Professor Tawfiq Froukh

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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