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Saadet Andrews
Saadet Andrews
其他姓名Saadet Mercimek-Mahmutoglu, Saadet Mahmutoglu, Saadet Mercimek
未知所在单位机构
在 ualberta.ca 的电子邮件经过验证
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ...
Genetics in Medicine 20 (4), 435-443, 2018
5592018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
G Costain, R Jobling, S Walker, MS Reuter, M Snell, S Bowdin, RD Cohn, ...
European Journal of Human Genetics 26 (5), 740-744, 2018
1362018
Natural history of vanishing white matter
EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
Annals of neurology 84 (2), 274-288, 2018
1102018
Clinical application of targeted next-generation sequencing panels and whole exome sequencing in childhood epilepsy
G Costain, D Cordeiro, D Matviychuk, S Mercimek-Andrews
Neuroscience 418, 291-310, 2019
1022019
AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients
TS Pearson, L Gilbert, T Opladen, A Garcia‐Cazorla, M Mastrangelo, ...
Journal of inherited metabolic disease 43 (5), 1121-1130, 2020
792020
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
742019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
H Guo, E Bettella, PC Marcogliese, R Zhao, JC Andrews, TJ Nowakowski, ...
Nature communications 10 (1), 4679, 2019
602019
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ...
Science advances 6 (49), eabc9207, 2020
592020
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing
TUJ Bruun, CL DesRoches, D Wilson, V Chau, T Nakagawa, M Yamasaki, ...
Genetics in Medicine 20 (5), 486-494, 2018
592018
Neonatal encephalopathy: Etiologies other than hypoxic-ischemic encephalopathy
AGS Karamian, S Mercimek-Andrews, K Mohammad, EJ Molloy, T Chang, ...
Seminars in Fetal and Neonatal Medicine 26 (5), 101272, 2021
502021
Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling
BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ...
Biological psychiatry 87 (2), 100-112, 2020
502020
De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder
MRF Reijnders, KA Miller, M Alvi, JAC Goos, MM Lees, A De Burca, ...
The American Journal of Human Genetics 102 (6), 1195-1203, 2018
492018
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
UFH Engelke, RE Van Outersterp, J Merx, FAMG Van Geenen, ...
The Journal of clinical investigation 131 (15), 2021
482021
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
AG Sega, EK Mis, K Lindstrom, S Mercimek-Andrews, W Ji, MT Cho, ...
Journal of Medical Genetics 56 (2), 113-122, 2019
462019
Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders
CA Farmer, AJ Kaat, A Thurm, I Anselm, N Akshoomoff, A Bennett, L Berry, ...
American Journal on Intellectual and Developmental Disabilities 125 (6), 475-480, 2020
452020
Sorbitol is a severity biomarker for PMM2‐CDG with therapeutic implications
AN Ligezka, S Radenkovic, M Saraswat, K Garapati, W Ranatunga, ...
Annals of neurology 90 (6), 887-900, 2021
402021
Treatment outcome of creatine transporter deficiency: international retrospective cohort study
TUJ Bruun, S Sidky, AO Bandeira, FG Debray, C Ficicioglu, J Goldstein, ...
Metabolic brain disease 33, 875-884, 2018
402018
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology
N Zabinyakov, G Bullivant, F Cao, M Fernandez Ojeda, ZP Jia, XY Wen, ...
PloS one 12 (10), e0186645, 2017
392017
Genetic landscape of pediatric movement disorders and management implications
D Cordeiro, G Bullivant, K Siriwardena, A Evans, J Kobayashi, RD Cohn, ...
Neurology: Genetics 4 (5), e265, 2018
382018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
Y Khaikin, S Sidky, J Abdenur, A Anastasi, D Ballhausen, S Buoni, ...
European Journal of Paediatric Neurology 22 (3), 369-379, 2018
372018
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