متابعة
amira masri
amira masri
prof. of chil neurology -faculty of medicine -the university of jordan
بريد إلكتروني تم التحقق منه على ju.edu.jo
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5572014
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
3382016
Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016-1021, 2009
2592009
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, ...
Molecular psychiatry 22 (4), 615-624, 2017
2192017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529-1538, 2017
1922017
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ...
Nature genetics 47 (5), 528-534, 2015
1372015
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
SK Chung, JF Vanbellinghen, JGL Mullins, A Robinson, J Hantke, ...
Journal of Neuroscience 30 (28), 9612-9620, 2010
1372010
Consanguinity and genetic disorders. Profile from Jordan.
HA Hamamy, AT Masri, AM Al-Hadidy, KM Ajlouni
Saudi medical journal 28 (7), 1015-1017, 2007
1202007
Katanin p80 regulates human cortical development by limiting centriole and cilia number
WF Hu, O Pomp, T Ben-Omran, A Kodani, K Henke, GH Mochida, ...
Neuron 84 (6), 1240-1257, 2014
1092014
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
J Tian, L Ling, M Shboul, H Lee, B O'Connor, B Merriman, SF Nelson, ...
The American Journal of Human Genetics 87 (6), 768-778, 2010
1082010
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans
LB Hills, A Masri, K Konno, W Kakegawa, ATN Lam, E Lim-Melia, ...
Neurology 81 (16), 1378-1386, 2013
1032013
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ...
Human mutation 35 (10), 1203-1210, 2014
892014
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease
E Carta, SK Chung, VM James, A Robinson, JL Gill, N Remy, ...
Journal of Biological Chemistry 287 (34), 28975-28985, 2012
862012
Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
B Fischer-Zirnsak, N Escande-Beillard, J Ganesh, YX Tan, M Al Bughaili, ...
The American Journal of Human Genetics 97 (3), 483-492, 2015
742015
GLRB is the third major gene of effect in hyperekplexia
SK Chung, A Bode, TD Cushion, RH Thomas, C Hunt, SE Wood, ...
Human molecular genetics 22 (5), 927-940, 2013
612013
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
H Fairfield, A Srivastava, G Ananda, R Liu, M Kircher, A Lakshminarayana, ...
Genome research 25 (7), 948-957, 2015
592015
Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy
M Assoum, C Philippe, B Isidor, L Perrin, P Makrythanasis, N Sondheimer, ...
The American Journal of Human Genetics 99 (6), 1368-1376, 2016
552016
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms
A Bode, SE Wood, JGL Mullins, A Keramidas, TD Cushion, RH Thomas, ...
Journal of Biological Chemistry 288 (47), 33745-33759, 2013
472013
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
M Zimoń, E Battaloğlu, Y Parman, S Erdem, J Baets, E De Vriendt, ...
neurogenetics 16, 33-42, 2015
462015
Profile of developmental delay in children under five years of age in a highly consanguineous community: A hospital-based study–Jordan
A Masri, H Hamamy, A Khreisat
Brain and Development 33 (10), 810-815, 2011
432011
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مقالات 1–20