| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 229 | 2014 |
| An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 HC Yu, JL Sloan, G Scharer, A Brebner, AM Quintana, NP Achilly, I Manoli, ... The American Journal of Human Genetics 93 (3), 506-514, 2013 | 143 | 2013 |
| Pyridoxine-dependent epilepsy: an expanding clinical spectrum CDM van Karnebeek, SA Tiebout, J Niermeijer, BT Poll-The, A Ghani, ... Pediatric Neurology 59, 6-12, 2016 | 140 | 2016 |
| Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ... Molecular genetics and metabolism 107 (3), 335-344, 2012 | 115 | 2012 |
| Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome CR Coughlin II, CDM van Karnebeek, W Al-Hertani, AY Shuen, ... Molecular Genetics and Metabolism 116 (1-2), 35-43, 2015 | 110 | 2015 |
| Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns CR Coughlin, GH Scharer, TH Shaikh Genome medicine 4, 1-12, 2012 | 95 | 2012 |
| Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia MA Swanson, CR Coughlin Jr, GH Scharer, HJ Szerlong, KJ Bjoraker, ... Annals of neurology 78 (4), 606-618, 2015 | 88 | 2015 |
| Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia KJ Bjoraker, MA Swanson, CR Coughlin II, J Christodoulou, ES Tan, ... The Journal of pediatrics 170, 234-239, 2016 | 83 | 2016 |
| The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT CR Coughlin, MA Swanson, K Kronquist, C Acquaviva, T Hutchin, ... Genetics in Medicine 19 (1), 104-111, 2017 | 82 | 2017 |
| Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I … MW Friederich, AJ Erdogan, CR Coughlin, MT Elos, H Jiang, ... Human molecular genetics 26 (4), 702-716, 2017 | 81 | 2017 |
| Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder CR Coughlin, GH Scharer, MW Friederich, HC Yu, EA Geiger, ... Journal of medical genetics 52 (8), 532-540, 2015 | 79 | 2015 |
| Clinical and biochemical characterization of four patients with mutations in ECHS1 S Ferdinandusse, MW Friederich, A Burlina, JPN Ruiter, CR Coughlin, ... Orphanet journal of rare diseases 10, 1-15, 2015 | 78 | 2015 |
| The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy CR Coughlin, MA Swanson, E Spector, NJL Meeks, KE Kronquist, ... Journal of inherited metabolic disease 42 (2), 353-361, 2019 | 73 | 2019 |
| Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ... Journal of inherited metabolic disease 44 (1), 178-192, 2021 | 69 | 2021 |
| Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children RJ DeBerardinis, CR Coughlin II, P Kaplan The Journal of urology 180 (6), 2620-2623, 2008 | 65 | 2008 |
| Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ... JIMD Reports, Volume 15, 47-57, 2015 | 63 | 2015 |
| Evidence for a recurrent microdeletion at chromosome 16p11. 2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease MG Sampson, CR Coughlin, P Kaplan, LK Conlin, KEC Meyers, ... American Journal of Medical Genetics Part A 152 (10), 2618-2622, 2010 | 63 | 2010 |
| Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing KC Chatfield, CR Coughlin II, MW Friederich, RC Gallagher, ... Mitochondrion 21, 1-10, 2015 | 58 | 2015 |
| Impact of diagnosis and therapy on cognitive function in urea cycle disorders R Posset, AL Gropman, SCS Nagamani, LC Burrage, JK Bedoyan, ... Annals of neurology 86 (1), 116-128, 2019 | 54 | 2019 |
| Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency LC Burrage, Q Sun, SH Elsea, MM Jiang, SCS Nagamani, AE Frankel, ... Human molecular genetics 24 (22), 6417-6427, 2015 | 53 | 2015 |
