Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M AlAsmari, Mohammed M Saleh, Filippo Pinto e Vairo, Pavel N Pichurin, Eric W Klee, Christopher T Schmitz, Christopher M Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G Calame, Jawid M Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J Wagstaff, Jennifer E Posey, James R Lupski, Dies Meijer, Matias Wagner. 2022. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. The American Journal of Human Genetics 109 (9), 1713-1723
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier. 2021. Human COQ4 Deficiency: Delineating the clinical, metabolic and neuroimaging phenotypes. Journal of Medical Genetics: doi:1136/jmedgenet-2021-107729
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, Mieke Boon, George Briassoulis, Stavroula Ilia, Birgit Kammer, Simone Reu, Stefanie Hornung, Rebecca Buchert, Linda Sofan, Tawfiq Froukh, Peter Witters, Daisy Rymen, Tobias B Haack, Marijke Proesmans, Matthias Griese. 2021. Expanding the phenotypic spectrum of FINCA syndrome beyond infancy. Clinical Genetics:100(4):453-461. org/10.1111/cge.14016
Fuad Chowdhury, Lei Wang, Mohammed Al-Raqad, David J. Amor, Alice Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, et al. 2021. aploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genetics in Medicine. https://doi.org/10.1038/s41436-021-01129-6
Oula Knuutinen, Angela Pyle, Maria Suo-Palosaari, Jennifer Duff, Tawfiq Froukh, Anna-Elina Lehesjoki, Salla M. Kangas, James Cassidy, Latifa Maraqa, Riikka Keski-Filppula, Hannaleena Kokkonen, Johanna Uusimaa, Rita Horvath, Paivi Vieira. 2020. Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype. Clinical Genetics; 98(5):493-498. doi: 10.1111/cge.13827.
Tawfiq Froukh; Ammar Hawwari; Khalid Al Zubi. 2020. Whole exome sequencing highlights variants in association with Keratoconus in Jordanian Families. BMC Medical Genetics;21:177. DOI: 10.1186/s12881-020-01112-z
Malek Zihlif, Tareq Mahafza, Tawfiq Froukh, Fatima M AL-Akhras, Rami Alsalman, Margaret Zuriekat and Randa Naffa. 2020. Association between Gasdermin A and Gasdermin B polymorphisms and allergic rhinitis amongst Jordanians. Endocrine, Metabolic Immune Disorders - Drug Targets. 21(3):472-477. https://doi.org/10.2174/1871530320666200604161656
Tawfiq Froukh; et al. 2020. Genetic basis of neurodevelopmental disorders in Jordan. Clinical Genetics.97(4):621-627. https://doi.org/10.1111/cge.13720.
Tawfiq Froukh. 2019. Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. Pakistan Journal of Medical Sciences. 35(6):1736-1739.
Tawfiq Froukh; Ammar Hawwari. 2019. Autosomal recessive non-syndromic keratoconus: homozygous frameshift variant in the candidate novel gene GALNT14 . Current Molecular Medicine.19(9):683-687.
Omar Nafi, Bashar Ramadan, Olaf Riess, Rebecca Buchert and Tawfiq Froukh. 2019. Novel Report of Variant Late Infantile Ceroid Lipofuscinosis in Jordan. World Journal of Clinical Cases. Journal of Medical Case Reports. 7(2):122-259.
Tawfiq Froukh. 2019. First record mutations in the genes ASPA and ARSA causing Leukodystrophy in Jordan. BioMed Research International. Biomed Research International. vol. 2019, Article ID 7235914, 7 pages, 2019. https://doi.org/10.1155/2019/7235914.
Tawfiq Froukh. 2017. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan. The Tohoku Journal of Experimental Medicine. 243(3):151-163.
Tawfiq Froukh; Saja Froukh. 2017. The Importance of Population Specific Sequence Variants as Control to Investigate the Causality of Rare Sequence Variants in Human Diseases in Jordan. MOJ Proteomics and Bioinformatics, 6(3): 00194.
Tawfiq Froukh. 2017. Loss of function mutations in the OMIM-genes implicated with Intellectual disability between Clinvar and EXAC. IJIR, 3(2):810-812.
Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B. Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Tim Strom, Sabine Hoffjan, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra. 2017. Exome sequencing in 152 consanguineous families with neurodevelopmental disorders reveals high diagnostic yield and numerous novel candidate genes. JAMA Psychiatry. 74(3):293-299.
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, Arakel G. Minassian, Melissa Galati, Rui Han Liu, Maryam Fotouhi, Julia Sommerfeld, Ayman J. Alfrook, Christian Marshall, Susan Walker, Peter Bauer, Stephen W. Scherer, Olaf Ries, Rebecca Buchert, Berge A. Minassian, Peter S. McPherson. 2016. Epileptic encephalopathy caused by mutations of the guanine-nucleotide exchange factor DENND5A. Am J Hum Gene. 99(6):1359-1367.
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. 2016. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Gene 99(4): 912-916.
Malek Zihlif, Nathir M Obeidat, Nadwa Zihlif, Tareq Mahafza, Tawfiq Froukh, Marcel T Ghanim, Hamza Beano, Fatima M Al-Akhras, Randa Naffa. 2016. Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians. Genetic Testing and Molecular Biomarkers. 20(3): 143-148.
Malek Zihlif, Nadwa Zihlif, Nathir M. Obeidat, Tareq Mahafza, Tawfiq Froukh, Majd T. Ghanim, Fatima M. Al-Akhras, and Randa Naffa. 2014. Association Between ADAM33 Polymorphisms and Susceptibility with Adult and Childhood Asthma Among Jordanians. Genetic Testing And Molecular Biomarkers,18 (11): 767-774.
Malek Zihlif , Tareq Mahafza, NathirM.Obeidat, Tawfiq Froukh, Mazen Shaban, FatimaM. Al-Akhras, Nadwa Zihlif, Randa Naffa. 2013. Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians. Gene 531:462466.
Froukh T. Kochzius M. 2007. Genetic population structure of the endemic fourline wrasse (Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea. Molecular Ecology, 16:1359-1367.
Froukh T. Kochzius M. 2008. Species boundaries and evolutionary lineages in the blue green damselfishes Chromis viridis and C. atripectoralis (Pomacentridae). Journal of Fish Biology, 72: 451-457.