| Year |
Citation |
Score |
| 2019 |
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, ... ... Wilson R, et al. Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Journal of Medical Genetics. PMID 31879361 DOI: 10.1136/jmedgenet-2019-106501 |
0.336 |
|
| 2019 |
Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic Genetics. 1-8. PMID 30870047 DOI: 10.1080/13816810.2019.1582069 |
0.383 |
|
| 2017 |
Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, Bloch M, Patel M, Ewert S, Abdullah W, Toygar A, Mudryi V, Al Badi M, Alzubdi M, Wilson RC, et al. Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency. Proceedings of the National Academy of Sciences of the United States of America. PMID 29229831 DOI: 10.1073/Pnas.1716621115 |
0.362 |
|
| 2016 |
Yau M, Azkawi HS, Haider S, Khattab A, Badi MA, Abdullah W, Senani AA, Wilson RC, Yuen T, Zaidi M, New MI. A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. Annals of the New York Academy of Sciences. PMID 27526338 DOI: 10.1111/Nyas.13162 |
0.342 |
|
| 2016 |
Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI. Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia. The Journal of Steroid Biochemistry and Molecular Biology. PMID 27041116 DOI: 10.1016/J.Jsbmb.2016.03.035 |
0.337 |
|
| 2015 |
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, ... ... Wilson RB, et al. Frataxin levels in peripheral tissue in Friedreich ataxia. Annals of Clinical and Translational Neurology. 2: 831-42. PMID 26339677 DOI: 10.1002/Acn3.225 |
0.32 |
|
| 2013 |
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, et al. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Human Mutation. 34: 462-72. PMID 23255504 DOI: 10.1002/Humu.22261 |
0.307 |
|
| 2007 |
Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Azar M, Najmabadi H, Saffari F, New MI. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Molecular Genetics and Metabolism. 90: 414-21. PMID 17275379 DOI: 10.1016/j.ymgme.2006.12.005 |
0.366 |
|
| 2004 |
Ogino S, Wilson RB. Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations. Human Mutation. 23: 392-3. PMID 15024734 DOI: 10.1002/humu.20013 |
0.369 |
|
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