rowida fayez al-momani
• Department of Medical Laboratory Sciences - Faculty Member

  • Ph.D. of Genetics from Leiden University, 2013
  • Msc. of PRACTICAL BIOLOGY from Jordan University of Science and Technology, 2005
  • Bsc. of Biology Sciences from Muota University, 2001

    Publications
  • Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB., "Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.," Neuromuscul Disord., vol. 19, no. , pp. 383-390, 2009
  • Yu Sun,1,11 Rowida Almomani,1,11 Emmelien Aten,1 Jacopo Celli,1 , "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.," Am J Hum Genet, vol. 87, no. , pp. 146-53, 2010
  • Almomani R, van der Heijden J, Ariyurek Y, Lai Y, Bakker E, van Galen M, Breuning MH, den Dunnen JT., "Experiences with array-based sequence capture; toward clinical applications.," Eur J Hum Genet. , vol. , no. , pp. 0-0,
  • Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M., "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.," Nature Genetics, vol. , no. , pp. 0-0,
  • Lemmers RJ1, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, , "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.," , vol. , no. , pp. 0-0,
  • Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT. , "Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.," Hum Muta, vol. , no. , pp. 0-0, 2013
  • Sun Y1, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, &l, "Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).," Hum Muta, vol. , no. , pp. 0-0,
  • Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW., "GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.," Am J Med Genet A., vol. , no. , pp. 0-0,
  • Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ., "Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.," Hum Muta, vol. , no. , pp. 0-0,
  • van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen IA, Sliwa K, Alders M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, Van Veldhuisen DJ, van Tintelen JP, Jongbloed JD, "Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.," Eur Heart J. , vol. , no. , pp. 0-0,
  • Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM., "Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.," J Am Coll Cardiol., vol. , no. , pp. 0-0,
  • Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network, Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G., "COL6A5 variants in familial neuropathic chronic itch.," Brain, vol. , no. , pp. 0-0, 2017
  • Rowida Almomani, The use of new technology to improve genetic testing, ,
  • "A gain-of-function sodium channel ?2-subunit mutation in painful diabetic neuropathy.", Molecular Pain
  • "Basal cell carcinoma pathology requests and reports are lacking important information", Journal of Skin Cancer
  • "Elevated Interleukin 31 serum levels in hemodialysis patients are associated with uremic pruritus", Cytokine
  • "Evaluation of molecular inversion probe versus TruSeq? custom methods for targeted next-generation sequencing", PLOS One
  • "Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies", International Journal of Molecular Sciences
  • "Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy", Journal of Medical Genetics
  • "IL-33/13 Axis and IL-4/31 Axis Play Distinct Roles in In ? ammatory Process and Itch in Psoriasis and Atopic Dermatitis", Clinical, Cosmetic and Investigational Dermatology
  • "Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome", Circulation research
  • "Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy", International Journal of Molecular Sciences
  • "Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy", International Journal of Molecular Sciences
  • "Yield of peripheral sodium channels gene screening in pure small fibre neuropathy", Journal of Neurology, Neurosurgery, and Psychiatry
  • Assistant Dean, Dean assistant, Sep 2021 - Sep 2022
  • Assistant Dean, Dean assistant, Sep 2020 - Sep 2021
  • Assistant Dean, Dean assistant, Sep 2019 - Sep 2020
  • Faculty Member, Department of Medical Laboratory Sciences, Mar 2017 - Present
  • ADVANCED CYTOGENETIC DIAGNOSTIC PRACTICAL TRAINING
  • ADVANCED DIAGNOSTIC IMMUNOHEMATOLOGY AND BLOOD BANKING PRACTICAL TRAINING
  • ADVANCED HUMAN CYTOGENETIC
  • ADVANCED HUMAN GENETICS
  • ADVANCED MOLECULAR BIOLOGY
  • ADVANCED MOLECULAR GENETICS PRACTICAL TRAINING
  • DIAGNOSTIC MOLECULAR BIOLOGY AND CYTOGENETIC
  • DIAGNOSTIC MOLECULAR BIOLOGY AND CYTOGENETIC PRACTICAL
  • MOLECULAR BIOLOGY
  • MOLECULAR DIAGNOSTIC AND CYTOGENETIC
  • MOLECULAR DIAGNOSTIC AND CYTOGENETIC( LAB)
  • MOLECULAR GENETICS
  • MOLECULAR TOXICOLOGY
  • SCIENTIFIC RESEARCH METHODS
  • SEMINAR
  • SPECIAL TOPICS IN HUMAN GENETICS