| Mutation of ATF6 causes autosomal recessive achromatopsia M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ... Human Genetics 134, 941-950, 2015 | 83 | 2015 |
| Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects AM Slavotinek, ST Garcia, G Chandratillake, T Bardakjian, E Ullah, D Wu, ... Clinical genetics 88 (5), 468-473, 2015 | 74 | 2015 |
| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 62 | 2018 |
| Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies MAN Saqib, K Nikopoulos, E Ullah, F Sher Khan, J Iqbal, R Bibi, A Jarral, ... Scientific reports 5 (1), 9965, 2015 | 35 | 2015 |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner, P Jani, D Hammoud, ... Annals of the rheumatic diseases 81 (10), 1453-1464, 2022 | 26 | 2022 |
| Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort MJ Reeves, KE Goetz, B Guan, E Ullah, D Blain, WM Zein, SJ Tumminia, ... Human mutation 41 (9), 1528-1539, 2020 | 26 | 2020 |
| Genetic analysis of consanguineous families presenting with congenital ocular defects E Ullah, MAN Saqib, S Sajid, N Shah, M Zubair, MA Khan, I Ahmed, G Ali, ... Experimental eye research 146, 163-171, 2016 | 25 | 2016 |
| Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa Z Latif, I Chakchouk, I Schrauwen, K Lee, RLP Santos-Cortez, I Abbe, ... Investigative ophthalmology & visual science 59 (11), 4552-4557, 2018 | 23 | 2018 |
| Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort L Prasov, B Guan, E Ullah, SM Archer, BM Ayres, CG Besirli, ... Scientific reports 10 (1), 19986, 2020 | 20 | 2020 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates M Pfau, CA Cukras, LA Huryn, WM Zein, E Ullah, MP Boyle, A Turriff, ... JCI insight 7 (2), 2022 | 18 | 2022 |
| A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C … ER Schiff, M Daich Varela, AG Robson, K Pierpoint, R Ba‐Abbad, S Nutan, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 15 | 2020 |
| Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study RB Hufnagel, W Liang, JL Duncan, CC Brewer, I Audo, AR Ayala, ... Human mutation 43 (5), 613-624, 2022 | 14 | 2022 |
| PDE6C: Novel mutations, atypical phenotype, and differences among children and adults MD Varela, E Ullah, S Yousaf, BP Brooks, RB Hufnagel, LA Huryn Investigative Ophthalmology & Visual Science 61 (12), 1-1, 2020 | 13 | 2020 |
| An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist R Mena, E Mendoza, M Gomez Peña, CA Valencia, E Ullah, RB Hufnagel, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 12 | 2020 |
| Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease J Zernant, W Lee, J Wang, K Goetz, E Ullah, T Nagasaki, PY Su, ... PLoS Genetics 18 (3), e1010129, 2022 | 11 | 2022 |
| Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia E Ullah, D Wu, L Madireddy, R Lao, P Ling-Fung Tang, E Wan, ... Ophthalmic genetics 38 (4), 371-375, 2017 | 11 | 2017 |
| Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease … LA Huryn, CT Kozycki, JY Serpen, WM Zein, E Ullah, A Iannaccone, ... Ophthalmology 130 (4), 423-432, 2023 | 10 | 2023 |
| Persistent dark cones in oligocone trichromacy revealed by multimodal adaptive optics ophthalmoscopy J Li, T Liu, OJ Flynn, A Turriff, Z Liu, E Ullah, J Liu, A Dubra, MA Johnson, ... Frontiers in aging neuroscience 13, 629214, 2021 | 9 | 2021 |
| Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort L Prasov, E Ullah, AE Turriff, BM Warner, J Conley, PR Mark, RB Hufnagel, ... American Journal of Medical Genetics Part A 182 (3), 493-497, 2020 | 9 | 2020 |
| Photoreceptor and retinal pigment epithelium relationships in eyes with vitelliform macular dystrophy revealed by multimodal adaptive optics imaging T Liu, N Aguilera, AJ Bower, J Li, E Ullah, A Dubra, C Cukras, BP Brooks, ... Investigative Ophthalmology & Visual Science 63 (8), 27-27, 2022 | 7 | 2022 |
Deborah A. NickersonUniversity of Washington在 uw.edu 的电子邮件经过验证
