| Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation P Zhao, ID Liu, JB Hodgin, PI Benke, J Selva, F Torta, MR Wenk, ... Journal of inherited metabolic disease 43 (5), 1131-1142, 2020 | 34 | 2020 |
| The frequency of MEFV gene mutations and genotypes in Sanliurfa province, South-Eastern region of Turkey, after the Syrian Civil War by using next generation sequencing and … E Gumus Journal of clinical medicine 7 (5), 105, 2018 | 28 | 2018 |
| Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders F Abdelfattah, A Kariminejad, AK Kahlert, PJ Morrison, E Gumus, ... Human mutation 41 (9), 1615-1628, 2020 | 26 | 2020 |
| A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options Y Wang, E Gumus, S Hekimi Molecular Genetics and Metabolism Reports 31, 100877, 2022 | 24 | 2022 |
| Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation E Gumus European journal of medical genetics 63 (1), 103637, 2020 | 24 | 2020 |
| MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome KW Martin, N Weaver, K Alhasan, E Gumus, BR Sullivan, M Zenker, ... American Journal of Neuroradiology 41 (10), 1943-1948, 2020 | 23 | 2020 |
| Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration GR LaForce, JS Farr, J Liu, C Akesson, E Gumus, O Pinkard, HC Miranda, ... Neuron 110 (8), 1340-1357. e7, 2022 | 17 | 2022 |
| A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: to whom, which threshold, when, in what way? E Gumus, B Kati, ES Pelit, E Ordek, H Ciftci Revista Internacional de Andrología 19 (1), 41-48, 2021 | 15 | 2021 |
| Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome AR Lima, BM Ferreira, C Zhang, A Jolly, H Du, JJ White, M Dawood, ... Human mutation 43 (7), 900-918, 2022 | 14 | 2022 |
| Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal … Z Yüksel, M Yazol, E Gümüş American Journal of Medical Genetics Part A 179 (8), 1603-1608, 2019 | 13 | 2019 |
| BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening T Tangeraas, JR Constante, PH Backe, A Oyarzábal, J Neugebauer, ... Brain 146 (7), 3003-3013, 2023 | 12 | 2023 |
| An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model LY Ahn, GC Coatti, J Liu, E Gumus, AE Schaffer, HC Miranda Journal of neuroscience research 99 (1), 110-123, 2021 | 12 | 2021 |
| The powerful association of angiotensin-converting enzyme insertion/deletion polymorphism and idiopathic recurrent pregnancy loss E Gumus Ginekologia Polska 89 (10), 573-576, 2018 | 12 | 2018 |
| Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 J Wang, A Foroutan, E Richardson, SA Skinner, J Reilly, J Kerkhof, ... European Journal of Human Genetics 30 (4), 420-427, 2022 | 10 | 2022 |
| The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip E Gumus, E Temiz, B Sarikaya, O Yuksekdag, S Sipahioglu, A Gonel Indian Journal of Orthopaedics 55, 169-175, 2021 | 10 | 2021 |
| Apolipoprotein E allelic variants and cerebral palsy E Gumus, B DURAK ARAS, O Çilingir, C Yarar, K ÇARMAN, ... Turkish Journal of Pediatrics 60 (4), 2018 | 9 | 2018 |
| Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey E Gumus, E Tuncez, O Oz, M Saka Guvenc Annals of Human Genetics 85 (1), 27-36, 2021 | 8 | 2021 |
| Two rare variants of Down syndrome: Down-Turner syndrome and Down syndrome with translocation (13; 14): a case report E Gumus Iranian Journal of Public Health 48 (11), 2079, 2019 | 8 | 2019 |
| Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A M Marchi, I D'Amato, M Andelic, D Cartelli, E Salvi, R Lombardi, E Gumus, ... Pain 163 (7), e882-e887, 2022 | 7 | 2022 |
| Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability A Rasheed, E Gumus, M Zaki, K Johnson, H Manzoor, G LaForce, D Ross, ... Journal of medical genetics 58 (4), 237-246, 2021 | 7 | 2021 |
