متابعة
Dina F Ahram
Dina F Ahram
Columbia University Medical Center
بريد إلكتروني تم التحقق منه على cumc.columbia.edu
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
1942019
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
1582009
The genetic mechanisms of primary angle closure glaucoma
DF Ahram, WL Alward, MH Kuehn
Eye 29 (10), 1251-1259, 2015
712015
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
322015
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
312020
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
312018
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
312014
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
262020
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
182021
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
172022
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
172021
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
102021
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
92023
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
72017
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
62020
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
52019
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
52016
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
42022
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
32022
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
22023
يتعذر على النظام إجراء العملية في الوقت الحالي. عاود المحاولة لاحقًا.
مقالات 1–20