| Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome A King, R Listernick, J Charrow, L Piersall, DH Gutmann American journal of medical genetics Part A 122 (2), 95-99, 2003 | 178 | 2003 |
| Late-onset optic pathway tumors in children with neurofibromatosis 1 R Listernick, RE Ferner, L Piersall, S Sharif, DH Gutmann, J Charrow Neurology 63 (10), 1944-1946, 2004 | 152 | 2004 |
| Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) TC Lairmore, LD Piersall, MK DeBenedetti, WG Dilley, MG Mutch, ... Annals of surgery 239 (5), 637-647, 2004 | 147 | 2004 |
| Fabry disease in infancy and early childhood: a systematic literature review DA Laney, DS Peck, AM Atherton, LP Manwaring, KM Christensen, ... Genetics in Medicine 17 (5), 323-330, 2015 | 119 | 2015 |
| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, ... Genetics in Medicine 19 (9), 1040-1048, 2017 | 107 | 2017 |
| Phenotypic characteristics of early Wolfram syndrome BA Marshall, MA Permutt, AR Paciorkowski, J Hoekel, R Karzon, ... Orphanet journal of rare diseases 8, 1-12, 2013 | 100 | 2013 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ... Molecular psychiatry 23 (2), 222-230, 2018 | 67 | 2018 |
| Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions AW El-Hattab, P Fang, W Jin, JR Hughes, JB Gibson, GS Patel, ... Journal of medical genetics 48 (12), 840-850, 2011 | 61 | 2011 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 59 | 2020 |
| Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma SC Jost, JW Ackerman, JR Garbow, LP Manwaring, DH Gutmann, ... Pediatric radiology 38, 1293-1299, 2008 | 56 | 2008 |
| WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11. 23 microdeletion … C DeSanto, K D'Aco, GC Araujo, N Shannon, H Vernon, A Rahrig, ... Journal of medical genetics 52 (11), 754-761, 2015 | 53 | 2015 |
| Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease GM Pastores, E Boyd, K Crandall, A Whelan, L Piersall, N Barnett Nephrology Dialysis Transplantation 22 (7), 1920-1925, 2007 | 51 | 2007 |
| NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay H Al‐Kateb, JS Shimony, M Vineyard, L Manwaring, S Kulkarni, ... American Journal of Medical Genetics Part A 161 (2), 377-381, 2013 | 46 | 2013 |
| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ... The American Journal of Human Genetics 108 (2), 346-356, 2021 | 41 | 2021 |
| Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions SJ Perlman, S Kulkarni, L Manwaring, M Shinawi American Journal of Medical Genetics Part A 161 (4), 711-716, 2013 | 40 | 2013 |
| Neuroimaging evidence of deficient axon myelination in Wolfram syndrome HM Lugar, JM Koller, J Rutlin, BA Marshall, K Kanekura, F Urano, ... Scientific reports 6 (1), 21167, 2016 | 37 | 2016 |
| Multigenerational autosomal dominant inheritance of 5p chromosomal deletions B Zhang, M Willing, DK Grange, M Shinawi, L Manwaring, M Vineyard, ... American journal of medical genetics part a 170 (3), 583-593, 2016 | 30 | 2016 |
| De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment V Okur, MT Cho, R van Wijk, B van Oirschot, J Picker, SA Coury, ... European Journal of Human Genetics 27 (7), 1081-1089, 2019 | 24 | 2019 |
| Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred LD Piersall, HC Dietz, BD Hall, RG Cadle, RE Pyeritz, CA Francomano, ... Oxford University Press, 1994 | 14 | 1994 |
| Vertebral anomalies in a new family with ODED syndrome LD Piersall, SB Dowton, WH McAlister, DJ Waggoner Clinical genetics 57 (6), 444-448, 2000 | 13 | 2000 |
