| Year |
Citation |
Score |
| 2020 |
Wu Y, Xia Y, Li P, Qu HQ, Liu Y, Yang Y, Lin J, Zheng M, Tian L, Wu Z, Huang S, Qin X, Zhou X, Chen S, Liu Y, et al. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome. Orphanet Journal of Rare Diseases. 15: 101. PMID 32321550 DOI: 10.1186/S13023-020-01378-9 |
0.324 |
|
| 2019 |
Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM. Expanding the Genetic Landscape of Usher-Like Phenotypes. Investigative Ophthalmology & Visual Science. 60: 4701-4710. PMID 31725169 DOI: 10.1167/Iovs.19-27470 |
0.349 |
|
| 2019 |
Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Frontiers in Genetics. 10: 819. PMID 31552105 DOI: 10.3389/Fgene.2019.00819 |
0.337 |
|
| 2019 |
Qu HQ, Wang X, Tian L, Hakonarson H. Application of ACMG criteria to classify variants in the human gene mutation database. Journal of Human Genetics. PMID 31451714 DOI: 10.1038/S10038-019-0663-8 |
0.346 |
|
| 2019 |
Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, et al. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. Nature Medicine. PMID 31263281 DOI: 10.1038/S41591-019-0479-2 |
0.344 |
|
| 2018 |
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, et al. Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. Human Molecular Genetics. PMID 29905864 DOI: 10.1093/Hmg/Ddy218 |
0.346 |
|
| 2018 |
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, ... ... Tian L, et al. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Scientific Reports. 8: 5285. PMID 29588463 DOI: 10.1038/S41598-018-23520-1 |
0.346 |
|
| 2017 |
Chang X, Li D, Tian L, Liu Y, March M, Wang T, Hou C, Pellegrino R, Levy R, Jen M, Soccio R, Sleiman P, Hakonarson H, Castelo-Soccio L. Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964). The Journal of Pediatrics. PMID 29269196 DOI: 10.1016/J.Jpeds.2017.11.011 |
0.332 |
|
| 2017 |
Zhang Y, Tian L, Sleiman P, Ghosh S, Hakonarson H. Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci. European Journal of Human Genetics : Ejhg. PMID 29203833 DOI: 10.1038/S41431-017-0041-Y |
0.313 |
|
| 2017 |
Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA. Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism. The Journal of Clinical Endocrinology and Metabolism. PMID 28323927 DOI: 10.1210/Jc.2016-3836 |
0.331 |
|
| 2017 |
Sleiman PM, March M, Nguyen K, Tian L, Pellegrino R, Hou C, Dridi W, Sager M, Housawi YH, Hakonarson H. Loss of Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy. Human Mutation. PMID 28150392 DOI: 10.1002/Humu.23188 |
0.348 |
|
| 2016 |
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, et al. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American Journal of Human Genetics. PMID 27616483 DOI: 10.1016/J.Ajhg.2016.07.013 |
0.323 |
|
| 2016 |
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, et al. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology. PMID 27065010 DOI: 10.1038/Nbt.3514 |
0.362 |
|
| 2016 |
Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. The Journal of Allergy and Clinical Immunology. PMID 27016798 DOI: 10.1016/J.Jaci.2016.01.018 |
0.329 |
|
| 2016 |
de Araújo Lima L, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, ... ... Tian L, et al. An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Scientific Reports. 6: 22851. PMID 26947246 DOI: 10.1038/Srep22851 |
0.3 |
|
| 2015 |
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, et al. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. Plos One. 10: e0133624. PMID 26197217 DOI: 10.1371/Journal.Pone.0133624 |
0.378 |
|
| 2015 |
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. American Journal of Medical Genetics. Part A. PMID 26111080 DOI: 10.1002/Ajmg.A.37217 |
0.315 |
|
| 2015 |
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, et al. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. Bmc Medical Genetics. 16: 16. PMID 25927548 DOI: 10.1186/S12881-015-0159-0 |
0.387 |
|
| 2015 |
Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, et al. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscular Disorders : Nmd. 25: 257-61. PMID 25557462 DOI: 10.1016/J.Nmd.2014.11.017 |
0.356 |
|
| 2014 |
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, et al. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet Journal of Rare Diseases. 9: 190. PMID 25491489 DOI: 10.1186/S13023-014-0190-9 |
0.31 |
|
| 2014 |
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, et al. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 124: 2767-74. PMID 25205116 DOI: 10.1182/Blood-2014-08-596445 |
0.321 |
|
| 2014 |
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, et al. Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics. PMID 24547928 DOI: 10.3109/13816810.2014.886269 |
0.348 |
|
| 2014 |
Perdigones N, Babushok DV, Tian L, Bradfield J, Kim CE, Perin JC, Hakonarson H, Bessler M, Mason PJ. An Acquired Mutation in Deubiquitinating Enzyme USP11 Associated with Clonal Hematopoiesis in Diamond Blackfan Anemia Blood. 124: 1596-1596. DOI: 10.1182/Blood.V124.21.1596.1596 |
0.353 |
|
| 2013 |
Wu Y, Tian L, Pirastu M, Stambolian D, Li H. MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads. Frontiers in Genetics. 4: 157. PMID 23967014 DOI: 10.3389/Fgene.2013.00157 |
0.318 |
|
| 2013 |
Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H. A missense mutation in ANKRD26 segregates with thrombocytopenia Blood. 122: 461-462. PMID 23869080 DOI: 10.1182/Blood-2013-03-489344 |
0.322 |
|
| 2013 |
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. American Journal of Human Genetics. 92: 1001-7. PMID 23731542 DOI: 10.1016/J.Ajhg.2013.04.024 |
0.343 |
|
| 2013 |
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine. 5: 28. PMID 23537139 DOI: 10.1186/Gm432 |
0.315 |
|
| 2012 |
Tian L, Piterkova L, Wang L, Ye Z, Cheng L, Wheeler DA, Hakonarson H, Prchal JT. Whole Genome Sequencing of Four CD34+-Derived iPSC Polycythemia Vera Clones From a Single Female Blood. 120: 1755-1755. DOI: 10.1182/Blood.V120.21.1755.1755 |
0.36 |
|
| 2011 |
Zauhar R, Tian L. A new Boundary Element Formulation for Macromolecular Electrostatics Biophysical Journal. 100: 159a. DOI: 10.1016/J.Bpj.2010.12.1082 |
0.598 |
|
| 2006 |
Meek PJ, Liu Z, Tian L, Wang CY, Welsh WJ, Zauhar RJ. Shape Signatures: speeding up computer aided drug discovery. Drug Discovery Today. 11: 895-904. PMID 16997139 DOI: 10.1016/J.Drudis.2006.08.014 |
0.597 |
|
| 2003 |
Zauhar RJ, Moyna G, Tian L, Li Z, Welsh WJ. Shape signatures: a new approach to computer-aided ligand- and receptor-based drug design. Journal of Medicinal Chemistry. 46: 5674-90. PMID 14667221 DOI: 10.1021/Jm030242K |
0.614 |
|
| Show low-probability matches. |