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Dana Marafi, MD MSc
Dana Marafi, MD MSc
Assistant Professor- Kuwait University
Verified email at ku.edu.kw
Title
Cited by
Cited by
Year
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome
D Marafi, B Suter, R Schultz, D Glaze, VN Pavlik, AM Goldman
Neurology 92 (2), e108-e114, 2019
252019
Bi-allelic pathogenic variants in TUBGCP2 cause microcephaly and lissencephaly spectrum disorders
T Mitani, J Punetha, I Akalin, D Pehlivan, M Dawidziuk, ZC Akdemir, ...
The American Journal of Human Genetics 105 (5), 1005-1015, 2019
212019
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
I Herman, MA Lopez, D Marafi, D Pehlivan, DG Calame, F Abid, TE Lotze
Muscle & Nerve 63 (3), 304-310, 2021
152021
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
J Punetha, E Karaca, A Gezdirici, RE Lamont, D Pehlivan, D Marafi, ...
Annals of clinical and translational neurology 6 (8), 1395-1406, 2019
122019
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine, 2022
102022
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
R Duan, NW Saadi, CM Grochowski, G Bhadila, A Faridoun, T Mitani, ...
American Journal of Medical Genetics Part A 185 (7), 1972-1980, 2021
102021
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
D Marafi, T Mitani, S Isikay, J Hertecant, M Almannai, K Manickam, ...
Annals of Clinical and Translational Neurology 7 (5), 610-627, 2020
102020
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ...
The American Journal of Human Genetics 108 (10), 1981-2005, 2021
92021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ...
Genetics in Medicine 23 (9), 1715-1725, 2021
82021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ...
Annals of neurology 89 (4), 828-833, 2021
62021
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
AK Saad, D Marafi, T Mitani, A Jolly, H Du, HM Elbendary, SN Jhangiani, ...
Brain 143 (10), e83-e83, 2020
62020
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
I Herman, A Jolly, H Du, M Dawood, GMH Abdel‐Salam, D Marafi, ...
American Journal of Medical Genetics Part A 188 (3), 735-750, 2022
42022
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
D Marafi, JM Fatih, R Kaiyrzhanov, MP Ferla, C Gijavanekar, A Al-Maraghi, ...
Brain 145 (3), 909-924, 2022
42022
Biallelic pathogenic variants in TNNT3 associated with congenital myopathy
DG Calame, J Fatih, I Herman, ZC Akdemir, H Du, SN Jhangiani, ...
Neurology Genetics 7 (3), 2021
42021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
AK Saad, D Marafi, T Mitani, H Du, K Rafat, JM Fatih, SN Jhangiani, ...
American Journal of Medical Genetics Part A 185 (4), 1288-1293, 2021
42021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Q Thomas, T Gautier, D Marafi, T Besnard, M Willems, S Moutton, B Isidor, ...
Genetics in Medicine 23 (10), 1901-1911, 2021
32021
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
M Scala, M Mojarrad, S Riazuddin, KW Brigatti, Z Ammous, JS Cohen, ...
Brain 143 (4), e31-e31, 2020
32020
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
JM Sliepka, SC McGriff, LZ Rossetti, P Bizargity, H Streff, YS Lee, H Dai, ...
Neurology Genetics 5 (6), 2019
32019
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
S Efthymiou, I Herman, F Rahman, N Anwar, R Maroofian, J Yip, T Mitani, ...
American Journal of Medical Genetics Part A 185 (7), 2241-2249, 2021
22021
Novel deletion of 6p21. 31p21. 1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly
NR Pillai, D Marafi, SA Monteiro, M Parnes, BM Chandy, A Patel, ...
European Journal of Medical Genetics 62 (6), 103531, 2019
22019
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