| Congenital disorders of glycosylation IJ Chang, M He, CT Lam Annals of translational medicine 6 (24), 2018 | 216 | 2018 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 145 | 2017 |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ... Genetics in Medicine 19 (2), 160-168, 2017 | 142 | 2017 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 129 | 2021 |
| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 108 | 2019 |
| Significant hepatic involvement in patients with ornithine transcarbamylase deficiency RC Gallagher, C Lam, D Wong, S Cederbaum, RJ Sokol The Journal of pediatrics 164 (4), 720-725. e6, 2014 | 71 | 2014 |
| ALG1‐CDG: clinical and molecular characterization of 39 unreported patients BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ... Human mutation 37 (7), 653-660, 2016 | 58 | 2016 |
| Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors C Lam, GA Golas, M Davids, M Huizing, MS Kane, DM Krasnewich, ... Molecular genetics and metabolism 115 (2-3), 128-140, 2015 | 51 | 2015 |
| COQ2 nephropathy: a treatable cause of nephrotic syndrome in children MC Starr, IJ Chang, LS Finn, A Sun, AA Larson, J Goebel, C Hanevold, ... Pediatric Nephrology 33, 1257-1261, 2018 | 46 | 2018 |
| Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes BN Whitley, C Lam, H Cui, K Haude, R Bai, L Escobar, A Hamilton, ... Human molecular genetics 27 (21), 3710-3719, 2018 | 42 | 2018 |
| The impact of rapid exome sequencing on medical management of critically ill children AS Freed, SVC Candadai, MC Sikes, J Thies, HM Byers, JN Dines, ... The Journal of pediatrics 226, 202-212. e1, 2020 | 40 | 2020 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 40 | 2020 |
| Peanut consumption increases levels of plasma very long chain fatty acids in humans C Lam, D Wong, S Cederbaum, B Lim, Y Qu Molecular Genetics and Metabolism 107 (3), 620-622, 2012 | 40 | 2012 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of inherited metabolic disease 44 (1), 148-163, 2021 | 35 | 2021 |
| Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency PL Hall, C Lam, JJ Alexander, G Asif, GT Berry, C Ferreira, HH Freeze, ... Molecular genetics and metabolism 124 (1), 82-86, 2018 | 34 | 2018 |
| 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? C Lam, LR Desviat, C Perez-Cerdá, M Ugarte, BA Barshop, S Cederbaum Molecular genetics and metabolism 103 (4), 338-340, 2011 | 33 | 2011 |
| 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 | 30 | 2021 |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ... Genetics in medicine 23 (2), 259-271, 2021 | 29 | 2021 |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder PE Schneeberger, F Kortüm, GC Korenke, M Alawi, R Santer, M Woidy, ... Brain 143 (8), 2437-2453, 2020 | 28 | 2020 |
| NGLY1-related congenital disorder of deglycosylation C Lam, L Wolfe, A Need, V Shashi, G Enns | 28 | 2018 |
Lynne A. WolfeNIHVerified email at nih.gov
