| Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies LE Warner, P Mancias, IJ Butler, CM McDonald, L Keppen, KG Koob, ... Nature genetics 18 (4), 382-384, 1998 | 595 | 1998 |
| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 405 | 2017 |
| Treatment of Smith‐Lemli‐Opitz syndrome: Results of a multicenter trial M Irons, ER Elias, D Abuelo, MJ Bull, CL Greene, VP Johnson, L Keppen, ... American journal of medical genetics 68 (3), 311-314, 1997 | 170 | 1997 |
| Etiological heterogeneity in X-linked spastic paraplegia. LD Keppen, MF Leppert, P O'connell, Y Nakamura, D Stauffer, M Lathrop, ... American journal of human genetics 41 (5), 933, 1987 | 110 | 1987 |
| Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6 A Masotti, P Uva, L Davis-Keppen, L Basel-Vanagaite, L Cohen, ... The American Journal of Human Genetics 96 (2), 295-300, 2015 | 106 | 2015 |
| Zinc deficiency acts as a co-teratogen with alcohol in fetal alcohol syndrome LD Keppen, T Pysher, OM Rennert Pediatric research 19 (9), 944-947, 1985 | 86 | 1985 |
| Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia F Cambi, XM Tang, P Cordray, PR Fain, LD Keppen, DF Barker Neurology 46 (4), 1112-1117, 1996 | 79 | 1996 |
| Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. L Boghosian-Sell, R Mewar, W Harrison, RM Shapiro, EH Zackai, J Carey, ... American journal of human genetics 55 (3), 476, 1994 | 75 | 1994 |
| Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations K Szigeti, W Wiszniewski, GM Saifi, DL Sherman, N Sule, AM Adesina, ... Neurogenetics 8, 257-262, 2007 | 60 | 2007 |
| Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency D Oglesbee, M He, N Majumder, J Vockley, A Ahmad, B Angle, B Burton, ... Genetics in Medicine 9 (2), 108-116, 2007 | 53 | 2007 |
| Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities MP Adam, RCM Hennekam, LD Keppen, MJ Bull, CL Clericuzio, ... American Journal of Medical Genetics Part A 137 (2), 117-124, 2005 | 47 | 2005 |
| Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening CB Pedersen, C Bischoff, E Christensen, H Simonsen, AM Lund, ... Pediatric research 60 (3), 315-320, 2006 | 38 | 2006 |
| Confirmation of autosomal dominant transmission of the DiGeorge malformation complex LD Keppen, JW Fasules, AW Burks, SM Gollin, JR Sawyer, CH Miller The Journal of pediatrics 113 (3), 506-508, 1988 | 35 | 1988 |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder C Shieh, N Jones, B Vanle, M Au, AY Huang, APG Silva, H Lee, ... Genetics in Medicine 22 (5), 878-888, 2020 | 32* | 2020 |
| FISH detection of Wolf‐Hirschhorn syndorem: Exclusion of D4F26 as critical site VP Johnson, MR Altherr, JM Blake, LD Keppen American journal of medical genetics 52 (1), 70-74, 1994 | 30 | 1994 |
| Clinical phenotype and molecular analysis of a three‐generation family with an interstitial deletion of the short arm of chromosome 5 LD Keppen, SM Gollin, D Edwards, J Sawyer, W Wilson, J Overhauser American journal of medical genetics 44 (3), 356-360, 1992 | 25 | 1992 |
| 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative K Bentler, S Zhai, SA Elsbecker, GL Arnold, BK Burton, J Vockley, ... Molecular genetics and metabolism 119 (1-2), 75-82, 2016 | 21 | 2016 |
| X‐linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female LD Keppen, MM Husain, RC Woody Clinical genetics 32 (2), 95-99, 1987 | 21 | 1987 |
| Anophthalmia in Delleman syndrome MC Brodsky, RA Harper, LD Keppen, CM Glasier American journal of medical genetics 37 (1), 157-158, 1990 | 19 | 1990 |
| Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome MC Brodsky, LD Keppen, CD Rice, JD Ranells American journal of ophthalmology 109 (4), 450-456, 1990 | 18 | 1990 |
