The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (1), 117-127, 2019 | 194 | 2019 |
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis D Ahram, TS Sato, A Kohilan, M Tayeh, S Chen, S Leal, M Al-Salem, ... The American Journal of Human Genetics 84 (2), 274-278, 2009 | 158 | 2009 |
The genetic mechanisms of primary angle closure glaucoma DF Ahram, WL Alward, MH Kuehn Eye 29 (10), 1251-1259, 2015 | 71 | 2015 |
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds DF Ahram, SD Grozdanic, H Kecova, A Henkes, RWJ Collin, MH Kuehn PloS one 10 (5), e0126660, 2015 | 32 | 2015 |
Pilot study of return of genetic results to patients in adult nephrology JG Nestor, M Marasa, H Milo-Rasouly, EE Groopman, SA Husain, ... Clinical Journal of the American Society of Nephrology 15 (5), 651-664, 2020 | 31 | 2020 |
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family W Besse, J Choi, D Ahram, S Mane, S Sanna‐Cherchi, V Torres, S Somlo Human mutation 39 (3), 378-382, 2018 | 31 | 2018 |
Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound DF Ahram, AC Cook, H Kecova, SD Grozdanic, MH Kuehn Molecular vision 20, 497, 2014 | 31 | 2014 |
Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 26 | 2020 |
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis PL Weng, AJ Majmundar, K Khan, TY Lim, S Shril, G Jin, J Musgrove, ... The American Journal of Human Genetics 108 (2), 357-367, 2021 | 18 | 2021 |
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations K Khan, DF Ahram, YP Liu, R Westland, RV Sampogna, N Katsanis, ... Kidney international 101 (3), 473-484, 2022 | 17 | 2022 |
Copy number variant analysis and genome-wide association study identify loci with large effect for vesicoureteral reflux M Verbitsky, P Krithivasan, E Batourina, A Khan, SE Graham, M Marasà, ... Journal of the American Society of Nephrology 32 (4), 805-820, 2021 | 17 | 2021 |
Family-based genome-wide association study of autism spectrum disorder in middle eastern families Y Al-Sarraj, E Al-Dous, RZ Taha, D Ahram, F Alshaban, M Tolfat, ... Genes 12 (5), 761, 2021 | 10 | 2021 |
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome A Barry, MT McNulty, X Jia, Y Gupta, H Debiec, Y Luo, C Nagano, ... Nature communications 14 (1), 2481, 2023 | 9 | 2023 |
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report DF Ahram, Y Al‐Sarraj, RZ Taha, SF Elhag, FA Al‐Shaban, H El‐Shanti, ... Clinical case reports 5 (6), 1013-1017, 2017 | 7 | 2017 |
Phenocopies, phenotypic expansion, and coincidental diagnoses: time to abandon targeted gene panels? DF Ahram, VS Aggarwal, S Sanna-Cherchi American Journal of Kidney Diseases 76 (4), 451-453, 2020 | 6 | 2020 |
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (4), 764-764, 2019 | 5 | 2019 |
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder DF Ahram, D Stambouli, A Syrogianni, Y Al‐Sarraj, S Gerou, H El‐Shanti, ... Clinical case reports 4 (12), 1125-1131, 2016 | 5 | 2016 |
GWAS in mice maps susceptibility to HIV-associated nephropathy to the Ssbp2 locus NJ Steers, Y Gupta, VD D’Agati, TY Lim, N DeMaria, A Mo, J Liang, ... Journal of the American Society of Nephrology 33 (1), 108-120, 2022 | 4 | 2022 |
Clinical real-time genome sequencing to solve the complex and confounded presentation of a child with focal segmental glomerulosclerosis and multiple malignancies NG Jain, DF Ahram, M Marasa, AU Rehman, HJ May, S Zacharoulis, ... Kidney International Reports 7 (10), 2312-2316, 2022 | 3 | 2022 |
Rare single nucleotide and copy number variants and the etiology of congenital obstructive uropathy: implications for genetic diagnosis DF Ahram, TY Lim, J Ke, G Jin, M Verbitsky, M Bodria, BH Kil, ... Journal of the American Society of Nephrology 34 (6), 1105-1119, 2023 | 2 | 2023 |