Year |
Citation |
Score |
2014 |
Peter B, Matsushita M, Oda K, Raskind W. De novo microdeletion of BCL11A is associated with severe speech sound disorder. American Journal of Medical Genetics. Part A. 164: 2091-6. PMID 24810580 DOI: 10.1002/Ajmg.A.36599 |
0.353 |
|
2013 |
Pritchard CC, Smith C, Marushchak T, Koehler K, Holmes H, Raskind W, Walsh T, Bennett RL. A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 1004-7. PMID 23619277 DOI: 10.1038/Gim.2013.51 |
0.316 |
|
2012 |
Chen D, Davis M, Mefford H, Sul Y, Naydenov A, Barloon AS, Wolff J, Matsushita M, Smith C, Stella N, Raskind W, Bird T. Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141) Neurology. 78: P05.141-P05.141. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.141 |
0.365 |
|
2010 |
Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology. 75: 1968-75. PMID 21115951 DOI: 10.1212/Wnl.0B013E3181Ffe4Bb |
0.352 |
|
2001 |
Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T. Hereditary benign chorea: clinical and genetic features of a distinct disease. Neurology. 57: 106-10. PMID 11445636 DOI: 10.1212/Wnl.57.1.106 |
0.372 |
|
2001 |
Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Annals of Neurology. 49: 486-92. PMID 11310626 DOI: 10.1002/Ana.98 |
0.364 |
|
2000 |
Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. European Journal of Human Genetics : Ejhg. 8: 449-54. PMID 10878666 DOI: 10.1038/Sj.Ejhg.5200480 |
0.341 |
|
1999 |
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations. Annals of the New York Academy of Sciences. 883: 351-365. PMID 29086946 DOI: 10.1111/J.1749-6632.1999.Tb08597.X |
0.335 |
|
1998 |
Raskind WH, Steinmann L, Najfeld V. Clonal development of myeloproliferative disorders: clues to hematopoietic differentiation and multistep pathogenesis of cancer. Leukemia. 12: 108-16. PMID 9519769 DOI: 10.1038/Sj.Leu.2400934 |
0.325 |
|
1996 |
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 46: 1507-14. PMID 8649538 DOI: 10.1212/Wnl.46.6.1507 |
0.359 |
|
1994 |
Klemsz M, Hromas R, Raskind W, Bruno E, Hoffman R. PE-1, a novel ETS oncogene family member, localizes to chromosome 1q21-q23. Genomics. 20: 291-4. PMID 8020980 DOI: 10.1006/Geno.1994.1169 |
0.322 |
|
1993 |
Hromas R, May W, Denny C, Raskind W, Moore J, Maki RA, Beck E, Klemsz MJ. Human FLI-1 localizes to chromosome 11Q24 and has an aberrant transcript in neuroepithelioma. Biochimica Et Biophysica Acta. 1172: 155-8. PMID 8439553 DOI: 10.1016/0167-4781(93)90283-J |
0.35 |
|
1992 |
McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH, Gusella JF. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita Cell. 68: 769-774. PMID 1310898 DOI: 10.1016/0092-8674(92)90151-2 |
0.322 |
|
1985 |
Ferraris AM, Raskind WH, Bjornson BH, Jacobson RJ, Singer JW, Fialkow PJ. Heterogeneity of B cell involvement in acute nonlymphocytic leukemia. Blood. 66: 342-4. PMID 3874662 DOI: 10.1182/Blood.V66.2.342.342 |
0.316 |
|
1984 |
Jacobson RJ, Temple MJ, Singer JW, Raskind W, Powell J, Fialkow PJ. A clonal complete remission in a patient with acute nonlymphocytic leukemia originating in a multipotent stem cell New England Journal of Medicine. 310: 1513-1517. PMID 6717542 DOI: 10.1056/Nejm198406073102307 |
0.321 |
|
1984 |
Raskind WH, Tirumali N, Jacobson R, Singer J, Fialkow PJ. Evidence for a multistep pathogenesis of a myelodysplastic syndrome Blood. 63: 1318-1323. PMID 6326894 DOI: 10.1182/Blood.V63.6.1318.1318 |
0.338 |
|
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