Rating scales for dystonia: a multicenter assessment CL Comella, S Leurgans, J Wuu, GT Stebbins, T Chmura, ... Movement disorders 18 (3), 303-312, 2003 | 370 | 2003 |
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 |
Lymphotoxin and tumor necrosis factor-alpha production by myelin basic protein-specific T cell clones correlates with encephalitogenicity MB Powell, D Mitchell, J Lederman, J Buckmeier, SS Zamvil, M Graham, ... International Immunology 2 (6), 539-544, 1990 | 347 | 1990 |
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 | 277 | 2019 |
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins, ... Science translational medicine 11 (489), 2019 | 244 | 2019 |
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 | 149 | 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 | 136 | 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 |
Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit EF Sanford, MM Clark, L Farnaes, MR Williams, JC Perry, EG Ingulli, ... Pediatric critical care medicine: a journal of the Society of Critical Care …, 2019 | 117 | 2019 |
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet journal of rare diseases 15, 1-30, 2020 | 106 | 2020 |
Mutations in DYT1: extension of the phenotypic and mutational spectrum K Kabakci, K Hedrich, JC Leung, M Mitterer, P Vieregge, R Lencer, ... Neurology 62 (3), 395-400, 2004 | 100 | 2004 |
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 |