Transplantation of hypoxia-preconditioned mesenchymal stem cells improves infarcted heart function via enhanced survival of implanted cells and angiogenesis X Hu, SP Yu, JL Fraser, Z Lu, ME Ogle, JA Wang, L Wei The Journal of thoracic and cardiovascular surgery 135 (4), 799-808, 2008 | 777 | 2008 |
Transplantation of hypoxia preconditioned bone marrow mesenchymal stem cells enhances angiogenesis and neurogenesis after cerebral ischemia in rats L Wei, JL Fraser, ZY Lu, X Hu, SP Yu Neurobiology of disease 46 (3), 635-645, 2012 | 460 | 2012 |
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 310 | 2014 |
Transplantation of embryonic stem cells improves nerve repair and functional recovery after severe sciatic nerve axotomy in rats L Cui, J Jiang, L Wei, X Zhou, JL Fraser, BJ Snider, SP Yu Stem cells 26 (5), 1356-1365, 2008 | 223 | 2008 |
Methylmalonic and propionic acidemias: clinical management update JL Fraser, CP Venditti Current opinion in pediatrics 28 (6), 682-693, 2016 | 219 | 2016 |
Systematic relationships among Lutzomyia sand flies (Diptera: Psychodidae) of Peru and Colombia based on the analysis of 12S and 28S ribosomal DNA sequences L Beati, AG Cáceres, JA Lee, LE Munstermann International journal for parasitology 34 (2), 225-234, 2004 | 127 | 2004 |
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 76 | 2020 |
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies LA Adang, O Sherbini, L Ball, M Bloom, A Darbari, H Amartino, D DiVito, ... Molecular genetics and metabolism 122 (1-2), 18-32, 2017 | 72 | 2017 |
Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors JD Ortigoza‐Escobar, M Alfadhel, M Molero‐Luis, N Darin, R Spiegel, ... Annals of neurology 82 (3), 317-330, 2017 | 69 | 2017 |
The role of VEGF/VEGFR2 signaling in peripheral stimulation-induced cerebral neurovascular regeneration after ischemic stroke in mice WL Li, JL Fraser, SP Yu, J Zhu, YJ Jiang, L Wei Experimental brain research 214, 503-513, 2011 | 59 | 2011 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 50 | 2023 |
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 N Shur, SM Atabaki, MS Kisling, A Tabarani, C Williams, JL Fraser, ... American journal of medical genetics Part A 185 (1), 68-72, 2021 | 49 | 2021 |
Sex-specific effects of N-acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemia X Nie, DW Lowe, LG Rollins, J Bentzley, JL Fraser, R Martin, I Singh, ... Neuroscience research 108, 24-33, 2016 | 47 | 2016 |
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies JL Fraser, A Vanderver, S Yang, T Chang, L Cramp, G Vezina, ... Molecular Genetics and Metabolism Reports 1, 66-70, 2014 | 36 | 2014 |
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy C Klöckner, H Sticht, P Zacher, B Popp, HE Babcock, DP Bakker, ... Genetics in Medicine 23 (4), 653-660, 2021 | 29 | 2021 |
Randomized clinical trial of first‐line genome sequencing in pediatric white matter disorders A Vanderver, G Bernard, G Helman, O Sherbini, R Boeck, J Cohn, ... Annals of neurology 88 (2), 264-273, 2020 | 28 | 2020 |
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum MI Mendes, LMC Green, E Bertini, D Tonduti, C Aiello, D Smith, E Salsano, ... Annals of clinical and translational neurology 7 (1), 83-93, 2020 | 28 | 2020 |
Fosmetpantotenate randomized controlled trial in pantothenate kinase–associated neurodegeneration T Klopstock, A Videnovic, AT Bischoff, C Bonnet, L Cif, C Comella, ... Movement Disorders 36 (6), 1342-1352, 2021 | 27 | 2021 |
Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention ME Lyon, JD Thompkins, K Fratantoni, JL Fraser, SE Schellinger, L Briggs, ... BMJ supportive & palliative care 12 (e5), e705-e714, 2022 | 25 | 2022 |
Vitamin D improves functional outcomes in neonatal hypoxic ischemic male rats treated with N-acetylcysteine and hypothermia DW Lowe, JL Fraser, LG Rollins, J Bentzley, X Nie, R Martin, I Singh, ... Neuropharmacology 123, 186-200, 2017 | 22 | 2017 |