| Year |
Citation |
Score |
| 2023 |
Liaqat K, Treat K, Mantcheva L, Nasir A, Weaver DD, Conboy E, Vetrini F. A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American Journal of Medical Genetics. Part A. PMID 38135440 DOI: 10.1002/ajmg.a.63499 |
0.319 |
|
| 2020 |
Younger G, Vetrini F, Weaver DD, Lynnes TC, Treat K, Pratt VM, Torres-Martinez W. EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. American Journal of Medical Genetics. Part A. 182: 2501-2507. PMID 32869452 DOI: 10.1002/ajmg.a.61808 |
0.34 |
|
| 2020 |
Stinson JL, Brault JA, Delk PR, Graham BH, Karmazyn B, Hall B, Weaver DD. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. American Journal of Medical Genetics. Part A. PMID 32426895 DOI: 10.1002/ajmg.a.61619 |
0.332 |
|
| 2018 |
Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American Journal of Medical Genetics. Part A. PMID 30549396 DOI: 10.1002/Ajmg.A.60698 |
0.311 |
|
| 2014 |
Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome? American Journal of Medical Genetics. Part A. 164: 287-90. PMID 24311538 DOI: 10.1002/ajmg.a.36273 |
0.393 |
|
| 2012 |
Davis ME, Stevens AK, Weaver DD. A case of multiple congenital anomalies including unusual ear nodules and finger contractures: a new genetic syndrome? Clinical Dysmorphology. 21: 218-21. PMID 22932444 DOI: 10.1097/MCD.0b013e3283590ac5 |
0.308 |
|
| 2012 |
Zitano L, Loder RT, Cohen MD, Weaver DD. Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome. American Journal of Medical Genetics. Part A. 158: 2309-16. PMID 22927185 DOI: 10.1002/ajmg.a.35514 |
0.365 |
|
| 2009 |
Griffith CB, Vance GH, Weaver DD. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. American Journal of Medical Genetics. Part A. 149: 1346-58. PMID 19449431 DOI: 10.1002/ajmg.a.32883 |
0.305 |
|
| 2005 |
Cushman LJ, Torres-Martinez W, Weaver DD. Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 638-41. PMID 16116593 DOI: 10.1002/bdra.20178 |
0.368 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2013 |
Ghoneima A, Sachdeva K, Hartsfield J, Weaver D, Kula K. The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. Journal of Orthodontics. 40: 47-52. PMID 23524547 DOI: 10.1179/1465313312Y.0000000032 |
0.3 |
|
| 2019 |
Cyrus S, Burkardt D, Weaver DD, Gibson WT. PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31724824 DOI: 10.1002/ajmg.c.31754 |
0.292 |
|
| 2012 |
Bibb AL, Rosenfeld JA, Weaver DD. Report of a mother and daughter with the 12q14 microdeletion syndrome. American Journal of Medical Genetics. Part A. 158: 417-22. PMID 22140081 DOI: 10.1002/ajmg.a.34397 |
0.292 |
|
| 2007 |
Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. American Journal of Medical Genetics. Part A. 143: 505-17. PMID 17266111 DOI: 10.1002/ajmg.a.31535 |
0.289 |
|
| 2008 |
Spurrier JL, Weaver DD. Ramos-Arroyo syndrome: long-term follow-up of previously reported family. American Journal of Medical Genetics. Part A. 146: 675-82. PMID 18241069 DOI: 10.1002/ajmg.a.32203 |
0.289 |
|
| 2014 |
Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. American Journal of Medical Genetics. Part A. 164: 820-3. PMID 24458945 DOI: 10.1002/ajmg.a.36362 |
0.288 |
|
| 2008 |
Abboy S, Weaver DD, Padilla LM, Faught P, Akin KK. Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings. American Journal of Medical Genetics. Part A. 146: 1503-8. PMID 18478587 DOI: 10.1002/ajmg.a.32254 |
0.282 |
|
| 2019 |
Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD. An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. American Journal of Medical Genetics. Part A. PMID 31512387 DOI: 10.1002/ajmg.a.61353 |
0.279 |
|
| 2015 |
Jackson J, Delk P, Farrow E, Griffith C, Lah M, Weaver DD. An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome? American Journal of Medical Genetics. Part A. 167: 683-7. PMID 25708102 DOI: 10.1002/ajmg.a.36927 |
0.278 |
|
| 2010 |
McGill AK, Pastore MT, Herman GE, Alliman S, Rosenfeld JA, Weaver DD. A tale of two deletions: a report of two novel 20p13 --> pter deletions. American Journal of Medical Genetics. Part A. 152: 1000-7. PMID 20358616 DOI: 10.1002/Ajmg.A.33339 |
0.271 |
|
| 2005 |
Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 577-82. PMID 16007591 DOI: 10.1002/bdra.20174 |
0.261 |
|
| 2016 |
Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz CE, Wang T, Weaver DD. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. American Journal of Medical Genetics. Part A. PMID 26804200 DOI: 10.1002/Ajmg.A.37567 |
0.256 |
|
| 2014 |
Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, et al. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. Plos One. 9: e107028. PMID 25203062 DOI: 10.1371/journal.pone.0107028 |
0.254 |
|
| 2014 |
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Weaver DD, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/J.Ajhg.2014.03.015 |
0.253 |
|
| 2010 |
Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 154: 142-5. PMID 20104611 DOI: 10.1002/ajmg.c.30241 |
0.252 |
|
| 2017 |
Scott AA, Hodge KD, Torres-Martinez W, Dlouhy SR, Smith JL, Weaver DD. Sinus pericranii in achondroplasia: a case report and review of the literature. Clinical Dysmorphology. 26: 252-255. PMID 28872565 DOI: 10.1097/Mcd.0000000000000196 |
0.246 |
|
| 2015 |
Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick RJ. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. Journal of Human Genetics. PMID 26311541 DOI: 10.1038/Jhg.2015.103 |
0.241 |
|
| 2012 |
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Chitayat D, Boycott KM, Weaver DD, et al. Mutations in EZH2 cause Weaver syndrome. American Journal of Human Genetics. 90: 110-8. PMID 22177091 DOI: 10.1016/J.Ajhg.2011.11.018 |
0.239 |
|
| 2015 |
Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). American Journal of Medical Genetics. Part A. 167: 1061-70. PMID 25728400 DOI: 10.1002/Ajmg.A.36973 |
0.229 |
|
| 2002 |
Farrior JH, Weaver DD, Kling TF, Klatte E. Progressive vertebral fusion of unknown etiology: a case report. American Journal of Medical Genetics. 112: 221-7. PMID 12244561 DOI: 10.1002/ajmg.10636 |
0.224 |
|
| 2007 |
Heyroth-Griffis CA, Weaver DD, Faught P, Bellus GA, Torres-Martinez W. On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence. American Journal of Medical Genetics. Part A. 143: 1025-31. PMID 17431896 DOI: 10.1002/ajmg.a.31691 |
0.222 |
|
| 2015 |
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, ... ... Weaver DD, et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics. 96: 519-31. PMID 25772936 DOI: 10.1016/J.Ajhg.2015.01.015 |
0.212 |
|
| 2020 |
Brault J, Walsh L, Vance GH, Weaver DD. Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression. Journal of Pediatric Genetics. 10: 222-229. PMID 34504726 DOI: 10.1055/s-0040-1715573 |
0.209 |
|
| 2011 |
Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, ... ... Weaver DD, et al. Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. European Journal of Human Genetics : Ejhg. 19: 547-54. PMID 21248749 DOI: 10.1038/ejhg.2010.237 |
0.208 |
|
| 2010 |
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, ... ... Weaver DD, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534 |
0.205 |
|
| 2009 |
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Human Molecular Genetics. 18: 1377-83. PMID 19193630 DOI: 10.1093/Hmg/Ddp042 |
0.2 |
|
| 2020 |
Peterman LA, Vance GH, Conboy EE, Anderson K, Weaver DD. An Adolescent with a Rare Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination. Case Reports in Genetics. 2020: 8857628. PMID 32934853 DOI: 10.1155/2020/8857628 |
0.197 |
|
| 2018 |
Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM. Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling. Molecular Cytogenetics. 11: 23. PMID 29599822 DOI: 10.1186/s13039-018-0372-6 |
0.196 |
|
| 2008 |
Heyen CA, Delk PR, Bull MJ, Weaver DD. A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones. American Journal of Medical Genetics. Part A. 146: 3120-5. PMID 19006219 DOI: 10.1002/ajmg.a.32573 |
0.194 |
|
| 2015 |
Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, et al. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function in Vitro. Human Mutation. PMID 26694085 DOI: 10.1002/humu.22946 |
0.193 |
|
| 2022 |
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, ... ... Weaver DD, et al. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry. PMID 36385166 DOI: 10.1038/s41380-022-01852-9 |
0.189 |
|
| 2004 |
Jain M, Weaver DD. Severe lower limb defects in exstrophy of the cloaca. American Journal of Medical Genetics. Part A. 128: 320-4. PMID 15216556 DOI: 10.1002/ajmg.a.30103 |
0.184 |
|
| 2005 |
Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD, Hoyme HE. Vascular-type disruptive defects in fetuses with homozygous α-thalassemia: Report of two cases and review of the literature Prenatal Diagnosis. 25: 1088-1096. PMID 16231329 DOI: 10.1002/pd.1276 |
0.181 |
|
| 2021 |
Møller LB, Mogensen M, Weaver DD, Pedersen PA. Occipital Horn Syndrome as a Result of Splice Site Mutations in . No Activity of Splice Variants Missing Exon 10 or Exon 15. Frontiers in Molecular Neuroscience. 14: 532291. PMID 33967692 DOI: 10.3389/fnmol.2021.532291 |
0.179 |
|
| 2005 |
Wheeler PG, Weaver DD. Adults with VATER association: long-term prognosis. American Journal of Medical Genetics. Part A. 138: 212-7. PMID 16152641 DOI: 10.1002/ajmg.a.30938 |
0.178 |
|
| 2011 |
Mark PR, Torres-Martinez W, Lachman RS, Weaver DD. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. American Journal of Medical Genetics. Part A. 155: 174-9. PMID 21204228 DOI: 10.1002/ajmg.a.33762 |
0.174 |
|
| 2017 |
Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, et al. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Human Mutation. PMID 28544275 DOI: 10.1002/Humu.23262 |
0.173 |
|
| 2004 |
Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC. Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases. Birth Defects Research. Part a, Clinical and Molecular Teratology. 70: 408-15. PMID 15211711 DOI: 10.1002/bdra.20036 |
0.165 |
|
| 2003 |
Eash DD, Weaver DD, Brunetti-Pierri N. Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. American Journal of Medical Genetics. Part A. 122: 70-5. PMID 12949976 DOI: 10.1002/ajmg.a.20242 |
0.147 |
|
| 2021 |
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, ... ... Weaver DD, et al. A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics. 108: 8-15. PMID 33417889 DOI: 10.1016/j.ajhg.2020.11.013 |
0.14 |
|
| 2009 |
Escobar LF, Weaver DD. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a persistent challenge 18 years later. American Journal of Medical Genetics. Part A. 149: 1099-101. PMID 19396837 DOI: 10.1002/ajmg.a.32792 |
0.132 |
|
| 2020 |
Traub ES, Sheppard SE, Dori Y, Burns KD, Zackai EH, Ware SM, Landis BJ, Li D, Weaver DD. Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features. Clinical Dysmorphology. PMID 32925199 DOI: 10.1097/MCD.0000000000000347 |
0.125 |
|
| 2005 |
Armstrong L, Allanson JE, Weaver DD, Bevan CJ, Hobart HH. Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37. American Journal of Medical Genetics. Part A. 134: 299-304. PMID 15742366 DOI: 10.1002/ajmg.a.30502 |
0.122 |
|
| 2019 |
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, ... ... Weaver DD, et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human Mutation. PMID 31595648 DOI: 10.1002/Humu.23929 |
0.121 |
|
| 2021 |
Serra-Torres M, Barreda R, Weaver D, Torres-Reveron A. Delayed Presentation of Patients with Hip Fractures during the COVID-19 "Stay-at-Home" Order in the Southmost Region of the United States. Advances in Orthopedics. 2021: 8822004. PMID 33643668 DOI: 10.1155/2021/8822004 |
0.119 |
|
| 2012 |
Henson KE, Hines KA, Weaver DD, Torres WM, Verbrugge J, Stone K, Vance GH. Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features. American Journal of Medical Genetics. Part A. 158: 1788-92. PMID 22653737 DOI: 10.1002/ajmg.a.35405 |
0.115 |
|
| 2017 |
Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, Molnar MJ, Hajnóczky G. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. Embo Molecular Medicine. PMID 28554942 DOI: 10.15252/Emmm.201607058 |
0.113 |
|
| 2005 |
Karoonuthaisiri N, Weaver D, Huang J, Cohen SN, Kao CM. Regional organization of gene expression in Streptomyces coelicolor. Gene. 353: 53-66. PMID 15936160 DOI: 10.1016/J.Gene.2005.03.042 |
0.108 |
|
| 2024 |
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, ... ... Weaver DD, et al. Personal journeys to and in human genetics and dysmorphology. American Journal of Medical Genetics. Part A. e63514. PMID 38329159 DOI: 10.1002/ajmg.a.63514 |
0.104 |
|
| 2017 |
Horwitz SM, Koch R, Porcu P, Oki Y, Moskowitz A, Perez M, Myskowski P, Officer A, Jaffe JD, Morrow SN, Allen K, Douglas M, Stern H, Sweeney J, Kelly P, ... ... Weaver D, et al. Activity of the PI3K-δ,γ inhibitor duvelisib in a phase I trial and preclinical models of T-cell lymphoma. Blood. PMID 29233821 DOI: 10.1182/Blood-2017-08-802470 |
0.103 |
|
| 2009 |
Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Human Genetics. 125: 345. PMID 19320024 |
0.102 |
|
| 2009 |
Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Human Genetics. 125: 345. PMID 19320023 |
0.102 |
|
| 2009 |
Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Human Genetics. 125: 344. PMID 19320021 |
0.102 |
|
| 2016 |
Sliwoski G, Schubert M, Stichel J, Weaver D, Beck-Sickinger AG, Meiler J. Discovery of Small-Molecule Modulators of the Human Y4 Receptor. Plos One. 11: e0157146. PMID 27294784 DOI: 10.1371/Journal.Pone.0157146 |
0.097 |
|
| 2015 |
Donnola SB, Dasenbrook EC, Weaver D, Lu L, Gupta K, Prabhakaran A, Yu X, Chmiel JF, McBennett K, Konstan MW, Drumm ML, Flask CA. Preliminary comparison of normalized T1 and non-contrast perfusion MRI assessments of regional lung disease in cystic fibrosis patients. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 26719281 DOI: 10.1016/J.Jcf.2015.11.009 |
0.097 |
|
| 2023 |
Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, Molnar MJ, Hajnóczky G. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. Embo Molecular Medicine. e17911. PMID 37431817 DOI: 10.15252/emmm.202317911 |
0.091 |
|
| 2014 |
Hajnóczky G, Booth D, Csordás G, Debattisti V, Golenár T, Naghdi S, Niknejad N, Paillard M, Seifert EL, Weaver D. Reliance of ER-mitochondrial calcium signaling on mitochondrial EF-hand Ca2+ binding proteins: Miros, MICUs, LETM1 and solute carriers. Current Opinion in Cell Biology. 29: 133-41. PMID 24999559 DOI: 10.1016/J.Ceb.2014.06.002 |
0.09 |
|
| 2006 |
Csordás G, Renken C, Várnai P, Walter L, Weaver D, Buttle KF, Balla T, Mannella CA, Hajnóczky G. Structural and functional features and significance of the physical linkage between ER and mitochondria. The Journal of Cell Biology. 174: 915-21. PMID 16982799 DOI: 10.1083/Jcb.200604016 |
0.087 |
|
| 2022 |
Katona M, Bartók Á, Nichtova Z, Csordás G, Berezhnaya E, Weaver D, Ghosh A, Várnai P, Yule DI, Hajnóczky G. Capture at the ER-mitochondrial contacts licenses IP receptors to stimulate local Ca transfer and oxidative metabolism. Nature Communications. 13: 6779. PMID 36351901 DOI: 10.1038/s41467-022-34365-8 |
0.083 |
|
| 2005 |
Huang J, Shi J, Molle V, Sohlberg B, Weaver D, Bibb MJ, Karoonuthaisiri N, Lih CJ, Kao CM, Buttner MJ, Cohen SN. Cross-regulation among disparate antibiotic biosynthetic pathways of Streptomyces coelicolor Molecular Microbiology. 58: 1276-1287. PMID 16313616 DOI: 10.1111/J.1365-2958.2005.04879.X |
0.082 |
|
| 2013 |
Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism Genetics in Medicine. 15: 729-732. PMID 23492874 DOI: 10.1038/gim.2013.26 |
0.081 |
|
| 2022 |
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, ... ... Weaver DD, et al. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36107167 DOI: 10.1016/j.gim.2022.08.015 |
0.081 |
|
| 2022 |
Mvoula L, Skubic J, Weaver D, Betancourt-Garcia M. Morbidity and Mortality After Rib Fracture in Elderly Patients (>65 Years Old) Compared to a Younger Cohort (≤65 Years of Age) at Doctor Hospital Renaissance Health. Cureus. 14: e30941. PMID 36465751 DOI: 10.7759/cureus.30941 |
0.08 |
|
| 2014 |
Weaver D, Eisner V, Liu X, Várnai P, Hunyady L, Gross A, Hajnóczky G. Distribution and apoptotic function of outer membrane proteins depend on mitochondrial fusion. Molecular Cell. 54: 870-8. PMID 24813948 DOI: 10.1016/J.Molcel.2014.03.048 |
0.075 |
|
| 2004 |
Weaver D, Karoonuthaisiri N, Tsai HH, Huang CH, Ho ML, Gai S, Patel KG, Huang J, Cohen SN, Hopwood DA, Chen CW, Kao CM. Genome plasticity in Streptomyces: identification of 1 Mb TIRs in the S. coelicolor A3(2) chromosome. Molecular Microbiology. 51: 1535-50. PMID 15009883 DOI: 10.1111/J.1365-2958.2003.03920.X |
0.073 |
|
| 2017 |
Weaver D, Gopalakrishnan K, Joe B. Large-Scale Transcriptome Analysis. Methods in Molecular Biology (Clifton, N.J.). 1527: 1-26. PMID 28116703 DOI: 10.1007/978-1-4939-6625-7_1 |
0.073 |
|
| 2003 |
Wu YJ, Davis CD, Dworetzky S, Fitzpatrick WC, Harden D, He H, Knox RJ, Newton AE, Philip T, Polson C, Sivarao DV, Sun LQ, Tertyshnikova S, Weaver D, Yeola S, et al. Fluorine substitution can block CYP3A4 metabolism-dependent inhibition: identification of (S)-N-[1-(4-fluoro-3- morpholin-4-ylphenyl)ethyl]-3- (4-fluorophenyl)acrylamide as an orally bioavailable KCNQ2 opener devoid of CYP3A4 metabolism-dependent inhibition. Journal of Medicinal Chemistry. 46: 3778-81. PMID 12930139 DOI: 10.1021/Jm034111V |
0.073 |
|
| 2014 |
Nguyen TT, Oh SS, Weaver D, Lewandowska A, Maxfield D, Schuler MH, Smith NK, Macfarlane J, Saunders G, Palmer CA, Debattisti V, Koshiba T, Pulst S, Feldman EL, Hajnóczky G, et al. Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease. Proceedings of the National Academy of Sciences of the United States of America. 111: E3631-40. PMID 25136135 DOI: 10.1073/Pnas.1402449111 |
0.072 |
|
| 2009 |
Liu X, Weaver D, Shirihai O, Hajnóczky G. Mitochondrial 'kiss-and-run': interplay between mitochondrial motility and fusion-fission dynamics. The Embo Journal. 28: 3074-89. PMID 19745815 DOI: 10.1038/Emboj.2009.255 |
0.071 |
|
| 2013 |
Csordás G, Golenár T, Seifert EL, Kamer KJ, Sancak Y, Perocchi F, Moffat C, Weaver D, de la Fuente Perez S, Bogorad R, Koteliansky V, Adijanto J, Mootha VK, Hajnóczky G. MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter. Cell Metabolism. 17: 976-87. PMID 23747253 DOI: 10.1016/J.Cmet.2013.04.020 |
0.07 |
|
| 2017 |
Liu X, Yang L, Long Q, Weaver D, Hajnóczky G. Choosing proper fluorescent dyes, proteins, and imaging techniques to study mitochondrial dynamics in mammalian cells. Biophysics Reports. 3: 64-72. PMID 29238743 DOI: 10.1007/S41048-017-0037-8 |
0.069 |
|
| 2019 |
Becker JC, Tollefson SJ, Weaver D, Williams JV. A medium-throughput screen for inhibitors of human metapneumovirus. Antiviral Chemistry & Chemotherapy. 27: 2040206619830197. PMID 30759993 DOI: 10.1177/2040206619830197 |
0.068 |
|
| 2013 |
Krukenberg RC, Koller DL, Weaver DD, Dickerson JN, Quaid KA. Two decades of Huntington disease testing: patient's demographics and reproductive choices. Journal of Genetic Counseling. 22: 643-53. PMID 23709094 DOI: 10.1007/S10897-013-9596-0 |
0.065 |
|
| 2018 |
Csordás G, Weaver D, Hajnóczky G. Endoplasmic Reticular-Mitochondrial Contactology: Structure and Signaling Functions. Trends in Cell Biology. PMID 29588129 DOI: 10.1016/J.Tcb.2018.02.009 |
0.062 |
|
| 2019 |
Bartok A, Weaver D, Golenár T, Nichtova Z, Katona M, Bánsághi S, Alzayady KJ, Thomas VK, Ando H, Mikoshiba K, Joseph SK, Yule DI, Csordás G, Hajnóczky G. IP receptor isoforms differently regulate ER-mitochondrial contacts and local calcium transfer. Nature Communications. 10: 3726. PMID 31427578 DOI: 10.1038/S41467-019-11646-3 |
0.061 |
|
| 2004 |
Yi M, Weaver D, Hajnóczky G. Control of mitochondrial motility and distribution by the calcium signal: a homeostatic circuit. The Journal of Cell Biology. 167: 661-72. PMID 15545319 DOI: 10.1083/Jcb.200406038 |
0.061 |
|
| 2012 |
Yi M, Weaver D, Eisner V, Várnai P, Hunyady L, Ma J, Csordás G, Hajnóczky G. Switch from ER-mitochondrial to SR-mitochondrial calcium coupling during muscle differentiation. Cell Calcium. 52: 355-65. PMID 22784666 DOI: 10.1016/J.Ceca.2012.05.012 |
0.059 |
|
| 2022 |
Paillard M, Huang KT, Weaver D, Lambert JP, Elrod JW, Hajnóczky G. Altered composition of the mitochondrial Cauniporter in the failing human heart. Cell Calcium. 105: 102618. PMID 35779476 DOI: 10.1016/j.ceca.2022.102618 |
0.059 |
|
| 2012 |
Rinker DC, Jones PL, Pitts RJ, Rutzler M, Camp G, Sun L, Xu P, Weaver D, Zwiebel LJ. Novel high-throughput screens of odorant receptors reveal candidate behaviour-modifying chemicals for mosquitoes. Physiological Entomology. 37: 33-41. PMID 32255891 DOI: 10.1111/J.1365-3032.2011.00821.X |
0.056 |
|
| 2007 |
Hajnóczky G, Saotome M, Csordás G, Weaver D, Yi M. Calcium signalling and mitochondrial motility. Novartis Foundation Symposium. 287: 105-17; discussion 1. PMID 18074634 DOI: 10.1002/9780470725207.Ch8 |
0.055 |
|
| 2019 |
Ren G, Zheng X, Bommarito M, Metzger S, Walia Y, Letson J, Schroering A, Kalinoski A, Weaver D, Figy C, Yeung K, Furuta S. Reduced Basal Nitric Oxide Production Induces Precancerous Mammary Lesions via ERBB2 and TGFβ. Scientific Reports. 9: 6688. PMID 31040372 DOI: 10.1038/S41598-019-43239-X |
0.054 |
|
| 2006 |
Lin J, Deng H, Jin L, Pandey P, Quinn J, Cantin S, Rynkiewicz MJ, Gorga JC, Bibbins F, Celatka CA, Nagafuji P, Bannister TD, Meyers HV, Babine RE, Hayward NJ, ... Weaver D, et al. Design, synthesis, and biological evaluation of peptidomimetic inhibitors of factor XIa as novel anticoagulants. Journal of Medicinal Chemistry. 49: 7781-91. PMID 17181160 DOI: 10.1021/Jm060978S |
0.054 |
|
| 2020 |
Davids MS, Kuss BJ, Hillmen P, Montillo M, Moreno C, Essell J, Lamanna N, Nagy Z, Tam CS, Stilgenbauer S, Ghia P, Delgado J, Lustgarten S, Weaver D, Youssoufian H, et al. Efficacy and Safety of Duvelisib Following Disease Progression on Ofatumumab in Patients with Relapsed/Refractory CLL or SLL in the DUO Crossover Extension Study. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 31964785 DOI: 10.1158/1078-0432.CCR-19-3061 |
0.052 |
|
| 2014 |
Jennings MT, Boyle MP, Weaver D, Callahan KA, Dasenbrook EC. Eradication strategy for persistent methicillin-resistant Staphylococcus aureus infection in individuals with cystic fibrosis--the PMEP trial: study protocol for a randomized controlled trial. Trials. 15: 223. PMID 24925006 DOI: 10.1186/1745-6215-15-223 |
0.051 |
|
| 2024 |
Csordás G, Weaver D, Várnai P, Hajnóczky G. Supralinear Dependence of the IP Receptor-to-Mitochondria Local Ca Transfer on the Endoplasmic Reticulum Ca Loading. Contact (Thousand Oaks (Ventura County, Calif.)). 7: 25152564241229273. PMID 38362008 DOI: 10.1177/25152564241229273 |
0.049 |
|
| 2023 |
Nichtová Z, Fernandez-Sanz C, De La Fuente S, Yuan Y, Hurst S, Lanvermann S, Tsai HY, Weaver D, Baggett A, Thompson C, Bouchet-Marquis C, Várnai P, Seifert EL, Dorn GW, Sheu SS, et al. Enhanced Mitochondria-SR Tethering Triggers Adaptive Cardiac Muscle Remodeling. Circulation Research. PMID 37057625 DOI: 10.1161/CIRCRESAHA.122.321833 |
0.049 |
|
| 2005 |
Tertyshnikova S, Knox RJ, Plym MJ, Thalody G, Griffin C, Neelands T, Harden DG, Signor L, Weaver D, Myers RA, Lodge NJ. BL-1249 [(5,6,7,8-tetrahydro-naphthalen-1-yl)-[2-(1H-tetrazol-5-yl)-phenyl]-amine]: a putative potassium channel opener with bladder-relaxant properties. The Journal of Pharmacology and Experimental Therapeutics. 313: 250-9. PMID 15608074 DOI: 10.1124/jpet.104.078592 |
0.049 |
|
| 2004 |
Wu YJ, Sun LQ, He H, Chen J, Starrett JE, Dextraze P, Daris JP, Boissard CG, Pieschl RL, Gribkoff VK, Natale J, Knox RJ, Harden DG, Thompson MW, Fitzpatrick W, ... Weaver D, et al. Synthesis and KCNQ2 opener activity of N-(1-benzo[1,3]dioxol-5-yl-ethyl, N-[1-(2,3-dihydro-benzofuran-5-yl)-ethyl, and N-[1-(2,3-dihydro-1H-indol-5-yl)-ethyl acrylamides. Bioorganic & Medicinal Chemistry Letters. 14: 4533-7. PMID 15357987 DOI: 10.1016/J.Bmcl.2004.06.035 |
0.048 |
|
| 2008 |
Kennedy JP, Williams L, Bridges TM, Daniels RN, Weaver D, Lindsley CW. Application of combinatorial chemistry science on modern drug discovery. Journal of Combinatorial Chemistry. 10: 345-54. PMID 18220367 DOI: 10.1021/Cc700187T |
0.044 |
|
| 2013 |
Wu YJ, Conway CM, Sun LQ, Machet F, Chen J, Chen P, He H, Bourin C, Calandra V, Polino JL, Davis CD, Heman K, Gribkoff VK, Boissard CG, Knox RJ, ... ... Weaver D, et al. Discovery of (S,E)-3-(2-fluorophenyl)-N-(1-(3-(pyridin-3-yloxy)phenyl)ethyl)-acrylamide as a potent and efficacious KCNQ2 (Kv7.2) opener for the treatment of neuropathic pain. Bioorganic & Medicinal Chemistry Letters. 23: 6188-91. PMID 24070783 DOI: 10.1016/J.Bmcl.2013.08.092 |
0.044 |
|
| 2008 |
Shirey JK, Xiang Z, Orton D, Brady AE, Johnson KA, Williams R, Ayala JE, Rodriguez AL, Wess J, Weaver D, Niswender CM, Conn PJ. An allosteric potentiator of M4 mAChR modulates hippocampal synaptic transmission. Nature Chemical Biology. 4: 42-50. PMID 18059262 DOI: 10.1038/Nchembio.2007.55 |
0.043 |
|
| 2005 |
L'Heureux A, Martel A, He H, Chen J, Sun LQ, Starrett JE, Natale J, Dworetzky SI, Knox RJ, Harden DG, Weaver D, Thompson MW, Wu YJ. (S,E)-N-[1-(3-heteroarylphenyl)ethyl]-3-(2-fluorophenyl)acrylamides: synthesis and KCNQ2 potassium channel opener activity. Bioorganic & Medicinal Chemistry Letters. 15: 363-6. PMID 15603955 DOI: 10.1016/J.Bmcl.2004.10.065 |
0.043 |
|
| 2014 |
Weaver D, Summers R. Fit-for-purpose phosphorus management: do riparian buffers qualify in catchments with sandy soils? Environmental Monitoring and Assessment. 186: 2867-84. PMID 24395552 DOI: 10.1007/s10661-013-3586-4 |
0.041 |
|
| 2004 |
Wu YJ, Boissard CG, Chen J, Fitzpatrick W, Gao Q, Gribkoff VK, Harden DG, He H, Knox RJ, Natale J, Pieschl RL, Starrett JE, Sun LQ, Thompson M, Weaver D, et al. (S)-N-[1-(4-cyclopropylmethyl-3,4-dihydro-2H-benzo[1,4]oxazin-6-yl)-ethyl]-3-(2-fluoro-phenyl)-acrylamide is a potent and efficacious KCNQ2 opener which inhibits induced hyperexcitability of rat hippocampal neurons. Bioorganic & Medicinal Chemistry Letters. 14: 1991-5. PMID 15050644 DOI: 10.1016/J.Bmcl.2004.01.069 |
0.039 |
|
| 2007 |
Lindsley CW, Weaver D, Jones C, Marnett L, Conn PJ. Preclinical drug discovery research and training at Vanderbilt. Acs Chemical Biology. 2: 17-20. PMID 17243778 DOI: 10.1021/Cb6004867 |
0.039 |
|
| 2010 |
Reinhardt HC, Hasskamp P, Schmedding I, Morandell S, van Vugt MA, Wang X, Linding R, Ong SE, Weaver D, Carr SA, Yaffe MB. DNA damage activates a spatially distinct late cytoplasmic cell-cycle checkpoint network controlled by MK2-mediated RNA stabilization. Molecular Cell. 40: 34-49. PMID 20932473 DOI: 10.1016/J.Molcel.2010.09.018 |
0.037 |
|
| 2021 |
Timbrell S, Aglan H, Cramer A, Foden P, Weaver D, Pachter J, Kilgallon A, Clarke RB, Farnie G, Bundred NJ. FAK inhibition alone or in combination with adjuvant therapies reduces cancer stem cell activity. Npj Breast Cancer. 7: 65. PMID 34050172 DOI: 10.1038/s41523-021-00263-3 |
0.036 |
|
| 2018 |
Porter A, Barr F, Weaver D. Matthaeus Stöber. The Veterinary Record. 182: 330. PMID 29545501 DOI: 10.1136/vr.k1235 |
0.032 |
|
| 2016 |
Weaver D. Commissioners need to be set free from bureaucracy and diktats. Nursing Standard (Royal College of Nursing (Great Britain) : 1987). 28: 37. PMID 24985301 DOI: 10.7748/ns.28.44.37.s48 |
0.031 |
|
| 2020 |
Ahmed W, Fatayerji A, Elsaftawy A, Hassan M, Weaver D, Riznic J. A New Capacitance Sensor for Measuring the Void Fraction of Two-Phase Flow Through Tube Bundles. Sensors (Basel, Switzerland). 20. PMID 32276326 DOI: 10.3390/S20072088 |
0.031 |
|
| 2015 |
Xu C, Yang L, Yuan Y, Du F, Wang S, Wang X, Zhu L, Zhang B, Weaver D. Up-regulation of CYLD enhances Listeria monocytogenes induced apoptosis in THP-1 cells. Microbial Pathogenesis. PMID 26545866 DOI: 10.1016/j.micpath.2015.10.007 |
0.029 |
|
| 2011 |
Shapiro GI, Tibes R, Gordon MS, Wong BY, Eder JP, Borad MJ, Mendelson DS, Vogelzang NJ, Bastos BR, Weiss GJ, Fernandez C, Sutherland W, Sato H, Pierceall WE, Weaver D, et al. Phase I studies of CBP501, a G2 checkpoint abrogator, as monotherapy and in combination with cisplatin in patients with advanced solid tumors. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 17: 3431-42. PMID 21220472 DOI: 10.1158/1078-0432.CCR-10-2345 |
0.024 |
|
| 2003 |
Wu YJ, Boissard CG, Greco C, Gribkoff VK, Harden DG, He H, L'Heureux A, Kang SH, Kinney GG, Knox RJ, Natale J, Newton AE, Lehtinen-Oboma S, Sinz MW, Sivarao DV, ... ... Weaver D, et al. (S)-N-[1-(3-morpholin-4-ylphenyl)ethyl]- 3-phenylacrylamide: an orally bioavailable KCNQ2 opener with significant activity in a cortical spreading depression model of migraine. Journal of Medicinal Chemistry. 46: 3197-200. PMID 12852750 DOI: 10.1021/Jm034073F |
0.016 |
|
| 2023 |
Weaver D, Moyle BD, McLennan CL, Casali L. Taming the wicked problem of climate change with "virtuous challenges": An integrated management heuristic. Journal of Environmental Management. 347: 119136. PMID 37783088 DOI: 10.1016/j.jenvman.2023.119136 |
0.015 |
|
| 2021 |
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, ... ... Weaver DD, et al. Response to Hamosh et al. American Journal of Human Genetics. 108: 1809-1810. PMID 34478656 DOI: 10.1016/j.ajhg.2021.07.006 |
0.01 |
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