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| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ... NPJ genomic medicine 3 (1), 1-8, 2018 | 369 | 2018 |
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| Whole-genome sequencing for optimized patient management MN Bainbridge, W Wiszniewski, DR Murdock, J Friedman, ... Science translational medicine 3 (87), 87re3-87re3, 2011 | 345 | 2011 |
| A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants SF Kingsmore, JA Cakici, MM Clark, M Gaughran, M Feddock, S Batalov, ... The American Journal of Human Genetics 105 (4), 719-733, 2019 | 275 | 2019 |
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| Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism J Leung, C Klein, J Friedman, P Vieregge, H Jacobs, D Doheny, C Kamm, ... Neurogenetics 3 (3), 133-143, 2001 | 202 | 2001 |
| De novo KCNB1 mutations in epileptic encephalopathy A Torkamani, K Bersell, BS Jorge, RL Bjork Jr, JR Friedman, CS Bloss, ... Annals of neurology 76 (4), 529-540, 2014 | 161 | 2014 |
| Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy J Friedman, E Roze, JE Abdenur, R Chang, S Gasperini, V Saletti, ... Annals of neurology 71 (4), 520-530, 2012 | 157 | 2012 |
| Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm P Opal, R Tintner, J Jankovic, J Leung, XO Breakefield, J Friedman, ... Movement disorders: official journal of the Movement Disorder Society 17 (2 …, 2002 | 148 | 2002 |
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ... European Journal of Human Genetics 24 (5), 652-659, 2016 | 143 | 2016 |
| Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia YZ Chen, JR Friedman, DH Chen, GCK Chan, CS Bloss, FM Hisama, ... Annals of neurology 75 (4), 542-549, 2014 | 142 | 2014 |
| YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 135 | 2017 |
| ADCY5-related dyskinesia: broader spectrum and genotype–phenotype correlations DH Chen, A Méneret, JR Friedman, O Korvatska, A Gad, ES Bonkowski, ... Neurology 85 (23), 2026-2035, 2015 | 121 | 2015 |
| An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm DP Dimmock, MM Clark, M Gaughran, JA Cakici, SA Caylor, C Clarke, ... The American Journal of Human Genetics 107 (5), 942-952, 2020 | 119 | 2020 |
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| Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet JRL Friedman, EA Thiele, D Wang, KB Levine, EK Cloherty, HH Pfeifer, ... Movement disorders 21 (2), 241-244, 2006 | 95 | 2006 |
| A major locus for myoclonus-dystonia maps to chromosome 7q in eight families C Klein, K Schilling, RJ Saunders-Pullman, J Garrels, XO Breakefield, ... The American Journal of Human Genetics 67 (5), 1314-1319, 2000 | 93 | 2000 |
