| Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ... JAMA psychiatry 74 (3), 293-299, 2017 | 208 | 2017 |
| Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features A Johansen, RO Rosti, D Musaev, E Sticca, R Harripaul, M Zaki, ... The American Journal of Human Genetics 99 (4), 912-916, 2016 | 90 | 2016 |
| Genetic population structure of the endemic fourline wrasse (Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea T Froukh, M Kochzius Molecular ecology 16 (7), 1359-1367, 2007 | 78 | 2007 |
| Species boundaries and evolutionary lineages in the blue green damselfishes Chromis viridis and Chromis atripectoralis (Pomacentridae) T Froukh, M Kochzius Journal of Fish Biology 72 (2), 451-457, 2008 | 42 | 2008 |
| Epileptic encephalopathy caused by mutations in the guanine nucleotide exchange factor DENND5A C Han, R Alkhater, T Froukh, AG Minassian, M Galati, RH Liu, M Fotouhi, ... The American Journal of Human Genetics 99 (6), 1359-1367, 2016 | 40 | 2016 |
| Genetic basis of neurodevelopmental disorders in 103 Jordanian families Clinical Genetics, 2020 | 23 | 2020 |
| Association between gasdermin A and gasdermin B polymorphisms and susceptibility to adult and childhood asthma among Jordanians M Zihlif, NM Obeidat, N Zihlif, T Mahafza, T Froukh, MT Ghanim, H Beano, ... Genetic testing and molecular biomarkers 20 (3), 143-148, 2016 | 19 | 2016 |
| Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians M Zihlif, T Mahafza, NM Obeidat, T Froukh, M Shaban, FM Al-Akhras, ... Gene 531 (2), 462-466, 2013 | 17 | 2013 |
| Studies on taxonomy and ecology of some fish larvae from the Gulf of Aqaba TJ Froukh, MA Khalaf, AM Disi University of Jordan, Amman, Jordan, 2001 | 17 | 2001 |
| Association between ADAM33 polymorphisms and susceptibility with adult and childhood asthma among Jordanians M Zihlif, N Zihlif, NM Obeidat, T Mahafza, T Froukh, MT Ghanim, ... Genetic Testing and Molecular Biomarkers 18 (11), 767-774, 2014 | 16 | 2014 |
| Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes L Laugwitz, A Seibt, D Herebian, S Peralta, I Kienzle, R Buchert, R Falb, ... Journal of medical genetics 59 (9), 878-887, 2022 | 15 | 2022 |
| Next generation sequencing and genome-wide genotyping identify the genetic causes of intellectual disability in ten consanguineous families from Jordan TJ Froukh The Tohoku Journal of Experimental Medicine 243 (4), 297-309, 2017 | 15 | 2017 |
| Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy CK Rapp, I Van Dijck, L Laugwitz, M Boon, G Briassoulis, S Ilia, ... Clinical Genetics 100 (4), 453-461, 2021 | 14 | 2021 |
| First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan T Froukh BioMed Research International 2019, 2019 | 11 | 2019 |
| Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities F Chowdhury, L Wang, M Al-Raqad, DJ Amor, A Baxová, Š Bendová, ... Genetics in Medicine 23 (7), 1234-1245, 2021 | 9 | 2021 |
| Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14 F Tawfiq, H Ammar Current Molecular Medecine, 2019 | 9* | 2019 |
| Two cases of variant late infantile ceroid lipofuscinosis in Jordan O Nafi, B Ramadan, O Riess, R Buchert, T Froukh World Journal of Clinical Cases 7 (2), 203, 2019 | 8 | 2019 |
| Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families F Tawfiq, H Ammar, AZ Khalid BMC Medical Genetics 21 (177), 2020 | 7 | 2020 |
| A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode D Marafi, N Kozar, R Duan, S Bradley, K Yokochi, F Al Mutairi, NW Saadi, ... The American Journal of Human Genetics 109 (9), 1713-1723, 2022 | 6 | 2022 |
| Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene F Tawfiq Pakistan Journal of Medical Sciences, 2019 | 6 | 2019 |
