Fabry disease revisited: management and treatment recommendations for adult patients A Ortiz, DP Germain, RJ Desnick, J Politei, M Mauer, A Burlina, C Eng, ... Molecular genetics and metabolism 123 (4), 416-427, 2018 | 559 | 2018 |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors DA Laney, RL Bennett, V Clarke, A Fox, RJ Hopkin, J Johnson, ... Journal of genetic counseling 22, 555-564, 2013 | 136 | 2013 |
The management and treatment of children with Fabry disease: a United States-based perspective RJ Hopkin, JL Jefferies, DA Laney, VH Lawson, M Mauer, MR Taylor, ... Molecular genetics and metabolism 117 (2), 104-113, 2016 | 132 | 2016 |
Diagnosis of Fabry disease via analysis of family history DA Laney, PM Fernhoff Journal of genetic counseling 17 (1), 79-83, 2008 | 121 | 2008 |
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 | 117 | 2015 |
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study DP Germain, E Brand, A Burlina, F Cecchi, SC Garman, J Kempf, ... Molecular genetics & genomic medicine 6 (4), 492-503, 2018 | 89 | 2018 |
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy DG Warnock, CP Thomas, B Vujkovac, RC Campbell, J Charrow, ... Journal of medical genetics 52 (12), 860-866, 2015 | 76 | 2015 |
The future is now: Technology's impact on the practice of genetic counseling ES Gordon, D Babu, DA Laney American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018 | 53 | 2018 |
Social‐adaptive and psychological functioning of patients affected by Fabry disease DA Laney, DJ Gruskin, PM Fernhoff, JF Cubells, OY Ousley, H Hipp, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 52 | 2010 |
Patients' perspectives on newborn screening for later-onset lysosomal storage diseases EC Lisi, S Gillespie, D Laney, N Ali Molecular Genetics and Metabolism 119 (1-2), 109-114, 2016 | 25 | 2016 |
Treatment of depression in adults with Fabry disease N Ali, S Gillespie, D Laney JIMD Reports, Volume 38, 13-21, 2018 | 24 | 2018 |
Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease GB Sharma, DD Robertson, DA Laney, MJ Gambello, M Terk Journal of Biomechanics 49 (9), 1961-1968, 2016 | 22 | 2016 |
Climbing the branches of a family tree: diagnosis of fragile X syndrome J Visootsak, H Hipp, H Clark, E Berry-Kravis, T Anderson, D Laney The Journal of pediatrics 164 (6), 1292-1295, 2014 | 18 | 2014 |
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience DA Laney, DP Germain, JP Oliveira, AP Burlina, GH Cabrera, GR Hong, ... Clinical kidney journal 13 (6), 913-925, 2020 | 17 | 2020 |
A retrospective survey studying the impact of Fabry disease on pregnancy A Holmes, D Laney JIMD Reports, Volume 21, 57-63, 2015 | 16 | 2015 |
The psychosocial impact of carrying a debated variant in the GLA gene S Macklin, D Laney, E Lisi, A Atherton, E Smith Journal of genetic counseling 27, 217-224, 2018 | 14 | 2018 |
Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments VG Wadley, LA McClure, DG Warnock, CL Lassen-Greene, RJ Hopkin, ... JIMD Reports, Volume 18, 41-50, 2015 | 12 | 2015 |
Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome JE King, J Plamondon, D Counts, D Laney, SDL Dixon Journal of Pediatric Endocrinology and Metabolism 29 (2), 185-191, 2016 | 11 | 2016 |
The phenotypic characteristics of the p. N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study DP Germain, E Brand, F Cecchi, J Kempf, DA Laney, A Linhart, L Marodi, ... Molecular Genetics and Metabolism 1 (120), S51-S52, 2017 | 7 | 2017 |
The impact of Fabry disease on reproductive fitness DA Laney, V Clarke, A Foley, EW Hall, SE Gillespie, M Holida, ... JIMD Reports, Volume 37, 85-97, 2017 | 5 | 2017 |