| Year |
Citation |
Score |
| 2024 |
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, et al. Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases. Brain Communications. 6: fcae070. PMID 38495304 DOI: 10.1093/braincomms/fcae070 |
0.403 |
|
| 2023 |
Meyer-Schuman R, Marte S, Smith TJ, Feely SME, Kennerson M, Nicholson G, Shy ME, Koutmou KS, Antonellis A. A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Human Molecular Genetics. PMID 37010095 DOI: 10.1093/hmg/ddad054 |
0.396 |
|
| 2022 |
Del Greco C, Antonellis A. The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease. Genes. 13. PMID 36553587 DOI: 10.3390/genes13122319 |
0.414 |
|
| 2022 |
Forrest ME, Meyer AP, Laureano Figueroa SM, Antonellis A. A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. Cold Spring Harbor Molecular Case Studies. PMID 36307205 DOI: 10.1101/mcs.a006246 |
0.346 |
|
| 2022 |
Meyer AP, Forrest ME, Nicolau S, Wiszniewski W, Bland MP, Tsao CY, Antonellis A, Abreu NJ. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. Human Mutation. PMID 35332613 DOI: 10.1002/humu.24372 |
0.344 |
|
| 2020 |
Meyer-Schuman R, Antonellis A. Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy. The Febs Journal. PMID 32940403 DOI: 10.1111/Febs.15538 |
0.386 |
|
| 2020 |
Fogarty EA, Kitzman JO, Antonellis A. SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells. Bmc Genomics. 21: 549. PMID 32770939 DOI: 10.1186/S12864-020-06963-7 |
0.391 |
|
| 2020 |
Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM. Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome. Human Mutation. PMID 32333447 DOI: 10.1002/Humu.24024 |
0.493 |
|
| 2020 |
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, ... ... Antonellis A, et al. GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. American Journal of Medical Genetics. Part A. PMID 32181591 DOI: 10.1002/Ajmg.A.61544 |
0.454 |
|
| 2019 |
Grosz BR, Golovchenko NB, Ellis M, Kumar K, Nicholson GA, Antonellis A, Kennerson ML. A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific Reports. 9: 19336. PMID 31852952 DOI: 10.1038/S41598-019-55875-4 |
0.437 |
|
| 2019 |
Kuo ME, Antonellis A. Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging. Trends in Genetics : Tig. PMID 31839378 DOI: 10.1016/J.Tig.2019.11.007 |
0.462 |
|
| 2019 |
Kuo ME, Antonellis A, Shakkottai VG. Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy. Cerebellum (London, England). PMID 31705293 DOI: 10.1007/S12311-019-01080-Y |
0.449 |
|
| 2019 |
Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. A recurrent GARS mutation causes distal hereditary motor neuropathy. Journal of the Peripheral Nervous System : Jpns. PMID 31628756 DOI: 10.1111/Jns.12353 |
0.397 |
|
| 2019 |
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, ... ... Antonellis A, et al. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. The Journal of Clinical Investigation. PMID 31557132 DOI: 10.1172/Jci130600 |
0.493 |
|
| 2019 |
Gillespie MK, McMillan HJ, Kernohan KD, Pena IA, Meyer-Schuman R, Antonellis A, Boycott KM. A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. Journal of Neuromuscular Diseases. PMID 31356216 DOI: 10.3233/Jnd-190404 |
0.49 |
|
| 2019 |
Ravi B, Antonellis A, Sumner CJ, Lieberman AP. Genetic approaches to the treatment of inherited neuromuscular diseases. Human Molecular Genetics. PMID 31227836 DOI: 10.1093/Hmg/Ddz131 |
0.411 |
|
| 2019 |
Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, ... ... Antonellis A, et al. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurology. Genetics. 5: e565. PMID 31192300 DOI: 10.1212/Nxg.0000000000000316 |
0.448 |
|
| 2019 |
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, ... ... Antonellis A, et al. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. American Journal of Human Genetics. PMID 30824121 DOI: 10.1016/J.Ajhg.2019.01.006 |
0.471 |
|
| 2019 |
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, ... ... Antonellis A, et al. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10: 708. PMID 30755616 DOI: 10.1038/S41467-018-07953-W |
0.482 |
|
| 2018 |
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, ... ... Antonellis A, et al. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Human Molecular Genetics. PMID 30304524 DOI: 10.1093/Hmg/Ddy344 |
0.479 |
|
| 2018 |
Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, Visser M, ... Antonellis A, et al. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Human Molecular Genetics. PMID 30124830 DOI: 10.1093/Hmg/Ddy290 |
0.528 |
|
| 2018 |
Law WD, Fogarty EA, Vester A, Antonellis A. A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve. Bmc Genomics. 19: 311. PMID 29716548 DOI: 10.1186/S12864-018-4692-Z |
0.38 |
|
| 2018 |
Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. European Journal of Medical Genetics. PMID 29655802 DOI: 10.1016/J.Ejmg.2018.04.005 |
0.496 |
|
| 2018 |
Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Human Mutation. PMID 29573043 DOI: 10.1002/Humu.23424 |
0.486 |
|
| 2017 |
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, ... ... Antonellis A, et al. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Human Mutation. PMID 29235198 DOI: 10.1002/Humu.23380 |
0.48 |
|
| 2017 |
Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Compound heterozygosity for loss-of-function GARS variants results in a multi-system developmental syndrome that includes severe growth retardation. Human Mutation. PMID 28675565 DOI: 10.1002/Humu.23287 |
0.474 |
|
| 2017 |
Meyer-Schuman R, Antonellis A. Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease. Human Molecular Genetics. PMID 28633377 DOI: 10.1093/Hmg/Ddx231 |
0.52 |
|
| 2016 |
Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay. Clinical Genetics. PMID 27891590 DOI: 10.1111/Cge.12930 |
0.41 |
|
| 2016 |
Oprescu SN, Griffin LB, Beg AA, Antonellis A. Predicting the Pathogenicity of Aminoacyl-tRNA Synthetase Mutations. Methods (San Diego, Calif.). PMID 27876679 DOI: 10.1016/J.Ymeth.2016.11.013 |
0.493 |
|
| 2016 |
Gopinath C, Law WD, Rodríguez-Molina JF, Prasad AB, Song L, Crawford GE, Mullikin JC, Svaren J, Antonellis A. Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation. Bmc Genomics. 17: 887. PMID 27821050 DOI: 10.1186/S12864-016-3167-3 |
0.377 |
|
| 2016 |
Griffin LB, Farley FA, Antonellis A, Keegan CE. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harbor Molecular Case Studies. 2: a000943. PMID 27551683 DOI: 10.1101/mcs.a000943 |
0.355 |
|
| 2016 |
Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A. SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2. Human Molecular Genetics. PMID 27466180 DOI: 10.1093/Hmg/Ddw233 |
0.437 |
|
| 2016 |
Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development. Human Molecular Genetics. PMID 27288457 DOI: 10.1093/Hmg/Ddw158 |
0.384 |
|
| 2016 |
Malissovas N, Griffin LB, Antonellis A, Beis D. Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Human Molecular Genetics. 25: 1528-42. PMID 27008886 DOI: 10.1093/Hmg/Ddw031 |
0.523 |
|
| 2015 |
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Antonellis A, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12: 1169-83. PMID 26257172 DOI: 10.1016/J.Celrep.2015.07.023 |
0.502 |
|
| 2015 |
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, ... ... Antonellis A, et al. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics. 47: 926-32. PMID 26168012 DOI: 10.1038/Ng.3354 |
0.422 |
|
| 2015 |
Safka Brozkova D, Deconinck T, Beth Griffin L, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, ... Antonellis A, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain : a Journal of Neurology. 138: 2161-72. PMID 26072516 DOI: 10.1093/Brain/Awv158 |
0.52 |
|
| 2015 |
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 84: 2040-7. PMID 25904691 DOI: 10.1212/Wnl.0000000000001583 |
0.383 |
|
| 2015 |
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, ... ... Antonellis A, et al. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. American Journal of Human Genetics. 96: 675-81. PMID 25817015 DOI: 10.1016/J.Ajhg.2015.02.012 |
0.522 |
|
| 2014 |
Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Human Mutation. 35: 1363-71. PMID 25168514 DOI: 10.1002/Humu.22681 |
0.528 |
|
| 2014 |
Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Human Molecular Genetics. 23: 5171-87. PMID 24833716 DOI: 10.1093/Hmg/Ddu240 |
0.443 |
|
| 2013 |
Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 1247-9. PMID 23729695 DOI: 10.1136/Jnnp-2013-305049 |
0.435 |
|
| 2013 |
Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle & Nerve. 47: 922-4. PMID 23553728 DOI: 10.1002/Mus.23743 |
0.427 |
|
| 2013 |
Wallen RC, Antonellis A. To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations. Current Opinion in Genetics & Development. 23: 302-9. PMID 23465884 DOI: 10.1016/J.Gde.2013.02.002 |
0.475 |
|
| 2013 |
Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/Humu.22210 |
0.523 |
|
| 2012 |
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, et al. Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. Journal of Medical Genetics. 49: 332-40. PMID 22581972 DOI: 10.1136/Jmedgenet-2011-100575 |
0.45 |
|
| 2012 |
Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Human Molecular Genetics. 21: 1581-91. PMID 22180461 DOI: 10.1093/Hmg/Ddr595 |
0.426 |
|
| 2012 |
Hodonsky CJ, Kleinbrink EL, Charney KN, Prasad M, Bessling SL, Jones EA, Srinivasan R, Svaren J, McCallion AS, Antonellis A. SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter. Molecular and Cellular Neurosciences. 49: 85-96. PMID 22037207 DOI: 10.1016/J.Mcn.2011.10.004 |
0.392 |
|
| 2012 |
McLaughlin HM, Sakaguchi R, Giblin W, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Human Mutation. 33: 244-53. PMID 22009580 DOI: 10.1002/Humu.21635 |
0.539 |
|
| 2011 |
Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Antonellis A, Lee YC. The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. Plos One. 6: e29393. PMID 22206013 DOI: 10.1371/Journal.Pone.0029393 |
0.448 |
|
| 2011 |
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. Plos Genetics. 7: e1002399. PMID 22144914 DOI: 10.1371/Journal.Pgen.1002399 |
0.487 |
|
| 2011 |
Prasad MK, Reed X, Gorkin DU, Cronin JC, McAdow AR, Chain K, Hodonsky CJ, Jones EA, Svaren J, Antonellis A, Johnson SL, Loftus SK, Pavan WJ, McCallion AS. SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. Bmc Developmental Biology. 11: 40. PMID 21672228 DOI: 10.1186/1471-213X-11-40 |
0.327 |
|
| 2011 |
Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Molecular and Cellular Neurosciences. 46: 432-43. PMID 21115117 DOI: 10.1016/J.Mcn.2010.11.006 |
0.474 |
|
| 2010 |
Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED. A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. Plos One. 5: e14346. PMID 21179557 DOI: 10.1371/Journal.Pone.0014346 |
0.499 |
|
| 2010 |
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC, Biesecker LG, Wilson TE, Ionasescu V, ... ... Antonellis A, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. American Journal of Human Genetics. 87: 560-6. PMID 20920668 DOI: 10.1016/J.Ajhg.2010.09.008 |
0.536 |
|
| 2009 |
Loftus SK, Antonellis A, Matera I, Renaud G, Baxter LL, Reid D, Wolfsberg TG, Chen Y, Wang C, Prasad MK, Bessling SL, McCallion AS, Green ED, Bennett DC, et al. Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell & Melanoma Research. 22: 99-110. PMID 18983539 DOI: 10.1111/J.1755-148X.2008.00518.X |
0.36 |
|
| 2008 |
Dutton JR, Antonellis A, Carney TJ, Rodrigues FS, Pavan WJ, Ward A, Kelsh RN. An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. Bmc Developmental Biology. 8: 105. PMID 18950534 DOI: 10.1186/1471-213X-8-105 |
0.414 |
|
| 2008 |
Antonellis A, Huynh JL, Lee-Lin SQ, Vinton RM, Renaud G, Loftus SK, Elliot G, Wolfsberg TG, Green ED, McCallion AS, Pavan WJ. Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish Plos Genetics. 4. PMID 18773071 DOI: 10.1371/Journal.Pgen.1000174 |
0.379 |
|
| 2008 |
Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annual Review of Genomics and Human Genetics. 9: 87-107. PMID 18767960 DOI: 10.1146/Annurev.Genom.9.081307.164204 |
0.462 |
|
| 2008 |
Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, Kennerson M. Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics. 9: 191-5. PMID 18458969 DOI: 10.1007/S10048-008-0126-4 |
0.377 |
|
| 2006 |
Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 10397-406. PMID 17035524 DOI: 10.1523/Jneurosci.1671-06.2006 |
0.513 |
|
| 2006 |
Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, et al. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. American Journal of Human Genetics. 78: 137-43. PMID 16385457 DOI: 10.1086/499164 |
0.451 |
|
| 2006 |
Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, Green ED, Paisley D, Kelsh RN, Pavan WJ, Ward A. Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Human Molecular Genetics. 15: 259-71. PMID 16330480 DOI: 10.1093/Hmg/Ddi442 |
0.475 |
|
| 2005 |
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain : a Journal of Neurology. 128: 2304-14. PMID 16014653 DOI: 10.1093/Brain/Awh590 |
0.459 |
|
| 2005 |
Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB, Kingsley DM, Green ED, Mortlock DP. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics. 86: 295-305. PMID 15979840 DOI: 10.1016/J.Ygeno.2005.05.003 |
0.33 |
|
| 2004 |
Cannons JL, Yu LJ, Hill B, Mijares LA, Dombroski D, Nichols KE, Antonellis A, Koretzky GA, Gardner K, Schwartzberg PL. SAP regulates T(H)2 differentiation and PKC-theta-mediated activation of NF-kappaB1. Immunity. 21: 693-706. PMID 15539155 DOI: 10.1016/J.Immuni.2004.09.012 |
0.522 |
|
| 2004 |
Jiao Z, Mollaaghababa R, Pavan WJ, Antonellis A, Green ED, Hornyak TJ. Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Research / Sponsored by the European Society For Pigment Cell Research and the International Pigment Cell Society. 17: 352-62. PMID 15250937 DOI: 10.1111/J.1600-0749.2004.00154.X |
0.366 |
|
| 2003 |
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics. 72: 1293-9. PMID 12690580 DOI: 10.1086/375039 |
0.471 |
|
| 2002 |
Klupa T, Warram JH, Antonellis A, Pezzolesi M, Nam M, Malecki MT, Doria A, Rich SS, Krolewski AS. Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care. 25: 2292-301. PMID 12453976 DOI: 10.2337/Diacare.25.12.2292 |
0.328 |
|
| 2002 |
Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. American Journal of Medical Genetics. 110: 131-5. PMID 12116250 DOI: 10.1002/Ajmg.10423 |
0.379 |
|
| 2002 |
Loftus SK, Larson DM, Baxter LL, Antonellis A, Chen Y, Wu X, Jiang Y, Bittner M, Hammer JA, Pavan WJ. Mutation of melanosome protein RAB38 in chocolate mice. Proceedings of the National Academy of Sciences of the United States of America. 99: 4471-6. PMID 11917121 DOI: 10.1073/Pnas.072087599 |
0.45 |
|
| 2002 |
Antonellis A, Rogus JJ, Canani LH, Makita Y, Pezzolesi MG, Nam M, Ng D, Moczulski D, Warram JH, Krolewski AS. A method for developing high-density SNP maps and its application at the type 1 angiotensin II receptor (AGTR1) locus. Genomics. 79: 326-32. PMID 11863362 DOI: 10.1006/Geno.2002.6713 |
0.311 |
|
| 2000 |
Moczulski DK, Scott L, Antonellis A, Rogus JJ, Rich SS, Warram JH, Krolewski AS. Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in Type 1 diabetes mellitus Diabetic Medicine. 17: 111-118. PMID 10746480 DOI: 10.1046/J.1464-5491.2000.00225.X |
0.332 |
|
| 1999 |
Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus Nature Genetics. 23: 323-328. PMID 10545951 DOI: 10.1038/15500 |
0.415 |
|
| 1999 |
Plengvidhya N, Antonellis A, Wogan LT, Poleev A, Borgschulze M, Warram JH, Ryffel GU, Krolewski AS, Doria A. Hepatocyte nuclear factor-4γ: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes Diabetes. 48: 2099-2102. PMID 10512380 DOI: 10.2337/Diabetes.48.10.2099 |
0.424 |
|
| 1999 |
Malecki MT, Yang Y, Antonellis A, Curtis S, Warram JH, Krolewski AS. Identification of new mutations in the hepatocyte nuclear factor 4α gene among families with early onset Type 2 diabetes mellitus Diabetic Medicine. 16: 193-200. PMID 10227563 DOI: 10.1046/J.1464-5491.1999.00073.X |
0.443 |
|
| 1998 |
Moczulski DK, Rogus JJ, Antonellis A, Warram JH, Krolewski AS. Major susceptibility locus for nephropathy in 1 diabetes on chromosome 3q: Results of novel discordant sib-pair analysis Diabetes. 47: 1164-1169. PMID 9648845 DOI: 10.2337/Diabetes.47.7.1164 |
0.37 |
|
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