| Year |
Citation |
Score |
| 2019 |
Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. PMID 31226715 DOI: 10.1055/S-0039-1692129 |
0.471 |
|
| 2019 |
Kane MS, Diamonstein CJ, Hauser N, Deeken JF, Niederhuber JE, Vilboux T. Endosomal trafficking defects in patient cells with biallelic variants. Genes & Diseases. 6: 56-67. PMID 30906834 DOI: 10.1016/J.Gendis.2018.12.004 |
0.369 |
|
| 2018 |
Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV. Glycomics in rare diseases: from diagnosis to mechanism. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 30423312 DOI: 10.1016/J.Trsl.2018.10.005 |
0.396 |
|
| 2017 |
Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28617419 DOI: 10.1038/Gim.2017.57 |
0.311 |
|
| 2017 |
Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, et al. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2. PMID 28344780 DOI: 10.1186/S13630-017-0048-6 |
0.431 |
|
| 2016 |
Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD. Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. Brain : a Journal of Neurology. PMID 27343256 DOI: 10.1093/Brain/Aww135 |
0.353 |
|
| 2016 |
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. American Journal of Human Genetics. PMID 26805780 DOI: 10.1016/J.Ajhg.2015.12.007 |
0.43 |
|
| 2015 |
Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics. PMID 26668131 DOI: 10.1136/Jmedgenet-2015-103338 |
0.352 |
|
| 2015 |
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40. PMID 25943031 DOI: 10.1016/J.Ymgme.2015.04.007 |
0.44 |
|
| 2015 |
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, et al. MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics. Part A. 167: 1374-80. PMID 25845469 DOI: 10.1002/Ajmg.A.37047 |
0.398 |
|
| 2013 |
Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. American Journal of Medical Genetics. Part A. 161: 1599-611. PMID 23666920 DOI: 10.1002/Ajmg.A.35971 |
0.537 |
|
| 2012 |
Barrowman J, Hamblet C, Kane MS, Michaelis S. Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. Plos One. 7: e32120. PMID 22355414 DOI: 10.1371/Journal.Pone.0032120 |
0.479 |
|
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