Year |
Citation |
Score |
2020 |
Miller A, Chen A, Buchner D, Williams S. Abstract P455: Epistatic Regulation of Hematological-related Traits and Gene Expression in Mice Reveals Additional Heritability Missed by Standard GWAS-type Analyses Circulation. 141. DOI: 10.1161/Circ.141.Suppl_1.P455 |
0.344 |
|
2019 |
Tiosano D, Mears JA, Buchner DA. Mitochondrial Dysfunction in Primary Ovarian Insufficiency. Endocrinology. PMID 31393557 DOI: 10.1210/En.2019-00441 |
0.33 |
|
2019 |
Cohen M, Persky R, Stegemann R, Hernández-Ramírez LC, Zeltser D, Lodish MB, Chen A, Keil MF, Tatsi C, Faucz F, Buchner D, Stratakis CA, Tiosano D. Germline USP8 mutation associated with pediatric Cushing disease and other clinical features: a new syndrome. The Journal of Clinical Endocrinology and Metabolism. PMID 31162547 DOI: 10.1210/Jc.2019-00697 |
0.38 |
|
2019 |
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, ... ... Buchner DA, et al. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. Plos Genetics. 15: e1008088. PMID 31034465 DOI: 10.1371/Journal.Pgen.1008088 |
0.386 |
|
2018 |
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, ... Buchner DA, et al. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Human Molecular Genetics. PMID 29566152 DOI: 10.1093/Hmg/Ddy098 |
0.402 |
|
2017 |
Chen A, Liu Y, Williams SM, Morris N, Buchner DA. Widespread epistasis regulates glucose homeostasis and gene expression. Plos Genetics. 13: e1007025. PMID 28961251 DOI: 10.1371/Journal.Pgen.1007025 |
0.315 |
|
2016 |
Charrier A, Wang L, Stephenson EJ, Ghanta SV, Ko CW, Croniger CM, Bridges D, Buchner DA. Zinc finger protein 407 overexpression upregulates PPAR-target gene expression and improves glucose homeostasis in mice. American Journal of Physiology. Endocrinology and Metabolism. ajpendo.00234.2016. PMID 27624101 DOI: 10.1152/Ajpendo.00234.2016 |
0.342 |
|
2015 |
Buchner DA, Nadeau JH. Contrasting genetic architectures in different mouse reference populations used for studying complex traits. Genome Research. 25: 775-91. PMID 25953951 DOI: 10.1101/Gr.187450.114 |
0.313 |
|
2015 |
Stegemann R, Buchner DA. Transgenerational inheritance of metabolic disease. Seminars in Cell & Developmental Biology. 43: 131-40. PMID 25937492 DOI: 10.1016/J.Semcdb.2015.04.007 |
0.305 |
|
2013 |
Inoue M, Jiang Y, Barnes RH, Tokunaga M, Martinez-Santibañez G, Geletka L, Lumeng CN, Buchner DA, Chun TH. Thrombospondin 1 mediates high-fat diet-induced muscle fibrosis and insulin resistance in male mice. Endocrinology. 154: 4548-59. PMID 24140711 DOI: 10.1210/En.2013-1587 |
0.318 |
|
2012 |
Buchner DA, Geisinger JM, Glazebrook PA, Morgan MG, Spiezio SH, Kaiyala KJ, Schwartz MW, Sakurai T, Furley AJ, Kunze DL, Croniger CM, Nadeau JH. The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 23: 431-42. PMID 22752552 DOI: 10.1007/S00335-012-9400-8 |
0.313 |
|
2011 |
Yazbek SN, Buchner DA, Geisinger JM, Burrage LC, Spiezio SH, Zentner GE, Hsieh CW, Scacheri PC, Croniger CM, Nadeau JH. Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis. Genome Research. 21: 1065-73. PMID 21507882 DOI: 10.1101/Gr.120741.111 |
0.367 |
|
2011 |
Buchner DA, Yazbek SN, Solinas P, Burrage LC, Morgan MG, Hoppel CL, Nadeau JH. Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance. Obesity (Silver Spring, Md.). 19: 917-24. PMID 20885388 DOI: 10.1038/Oby.2010.214 |
0.305 |
|
2010 |
Yazbek SN, Spiezio SH, Nadeau JH, Buchner DA. Ancestral paternal genotype controls body weight and food intake for multiple generations. Human Molecular Genetics. 19: 4134-44. PMID 20696673 DOI: 10.1093/Hmg/Ddq332 |
0.301 |
|
2009 |
Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH. The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 2733-41. PMID 19261867 DOI: 10.1523/Jneurosci.6026-08.2009 |
0.699 |
|
2008 |
Buchner DA, Burrage LC, Hill AE, Yazbek SN, O'Brien WE, Croniger CM, Nadeau JH. Resistance to diet-induced obesity in mice with a single substituted chromosome. Physiological Genomics. 35: 116-22. PMID 18628339 DOI: 10.1152/Physiolgenomics.00033.2008 |
0.325 |
|
2007 |
Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, et al. pak2a mutations cause cerebral hemorrhage in redhead zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 104: 13996-4001. PMID 17715297 DOI: 10.1182/Blood.V108.11.142.142 |
0.38 |
|
2004 |
Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK. Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica. 122: 37-45. PMID 15619959 DOI: 10.1007/S10709-004-1441-9 |
0.747 |
|
2004 |
Buchner DA, Seburn KL, Frankel WN, Meisler MH. Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 344-51. PMID 15170223 DOI: 10.1007/S00335-004-2332-1 |
0.709 |
|
2003 |
Buchner DA, Trudeau M, George AL, Sprunger LK, Meisler MH. High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot. Genomics. 82: 452-9. PMID 13679025 DOI: 10.1016/S0888-7543(03)00152-6 |
0.746 |
|
2003 |
Buchner DA, Trudeau M, Meisler MH. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science (New York, N.Y.). 301: 967-9. PMID 12920299 DOI: 10.1126/Science.1086187 |
0.689 |
|
2003 |
Buchner DA, Meisler MH. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene. 307: 23-30. PMID 12706885 DOI: 10.1016/S0378-1119(03)00423-2 |
0.572 |
|
2002 |
Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Human Molecular Genetics. 11: 2765-75. PMID 12374766 DOI: 10.1093/Hmg/11.22.2765 |
0.748 |
|
2002 |
Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Mutations of voltage-gated sodium channels in movement disorders and epilepsy. Novartis Foundation Symposium. 241: 72-81; discussion 82. PMID 11771652 DOI: 10.1002/0470846682.Ch6 |
0.732 |
|
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