| Year |
Citation |
Score |
| 2020 |
Hammami Bomholtz S, Refaat M, Buur Steffensen A, David JP, Espinosa K, Nussbaum R, Wojciak J, Hjorth Bentzen B, Scheinman M, Schmitt N. Functional phenotype variations of two novel K 7.1 mutations identified in patients with Long QT syndrome. Pacing and Clinical Electrophysiology : Pace. PMID 31899541 DOI: 10.1111/Pace.13870 |
0.303 |
|
| 2020 |
Callis TE, Truty R, Esplin ED, Morales A, Vatta M, Salberg L, Nussbaum R. Cardiologists Beware: Clinical Limitations Of Genotyping- Versus Sequencing-Based Strategies For Cardiomyopathy Evaluation Journal of the American College of Cardiology. 75: 6. DOI: 10.1016/S0735-1097(20)30552-0 |
0.3 |
|
| 2019 |
Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, ... Nussbaum R, et al. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circulation. Heart Failure. 12: e005371. PMID 30871351 DOI: 10.1161/Circheartfailure.118.005371 |
0.311 |
|
| 2019 |
Esplin E, Haverfield E, Yang S, Herrera B, Anderson M, Nussbaum R. Abstract P4-03-06: Limitations of direct-to-consumer genetic screening for HBOC: False negatives, false positives and everything in between Cancer Research. 79. DOI: 10.1158/1538-7445.Sabcs18-P4-03-06 |
0.363 |
|
| 2018 |
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, ... ... Nussbaum R, et al. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. Plos Genetics. 14: e1007752. PMID 30586411 DOI: 10.1371/Journal.Pgen.1007752 |
0.338 |
|
| 2018 |
Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK. Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. Clinical Journal of Gastroenterology. PMID 29766397 DOI: 10.1007/S12328-018-0870-4 |
0.339 |
|
| 2018 |
Lincoln S, Truty R, Zook J, Aradhya S, Salit M, Nussbaum R. Abstract PD1-03: Clinically actionable pathogenic mutations that may be missed by conventional NGS-based testing: An analysis of 80,000 patients Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-Pd1-03 |
0.314 |
|
| 2018 |
Lincoln S, Zook J, Truty R, Chowdhury S, Fellowes A, Mahamdallie S, Ferber M, Cleveland M, Huang C, Tomson F, Klee E, DeSilva W, Seal S, Aradhya S, Nussbaum R, et al. Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-P4-06-08 |
0.371 |
|
| 2018 |
Blanco A, Yang S, Michalski S, Ouyang K, Hamlington B, Fulbright J, Erhard K, Kang H, Jacobs M, Koptiuch C, Vig H, Silver E, Benson C, Massingham L, Lincoln S, ... Nussbaum R, et al. Abstract P4-06-02: Germline analysis of breast cancer patients with abnormal somatic results: Ancillary assessment or critical co-diagnostic? Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-P4-06-02 |
0.358 |
|
| 2018 |
Esplin E, Michalski S, Yang S, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman J, Chittenden A, Stopfer J, Schneider K, Sacca R, ... ... Nussbaum R, et al. Abstract P3-03-01: Clinical utility of finding pathogenic mutations beyond BRCA1/2 in breast cancer patients Cancer Research. 78. DOI: 10.1158/1538-7445.Sabcs17-P3-03-01 |
0.324 |
|
| 2017 |
Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, Yang F, Tasan M, Tan G, Yang S, Fowler DM, ... Nussbaum R, et al. A framework for exhaustively mapping functional missense variants. Molecular Systems Biology. 13: 957. PMID 29269382 DOI: 10.15252/Msb.20177908 |
0.321 |
|
| 2017 |
Refaat M, Bomholtz S, Steffensen A, David J, Espinosa K, Bentzen B, Nussbaum R, Wojciak J, Scheinman M, Schmitt N. P5859Genotype-phenotype correlation of novel KV7.1 mutations identified in patients with Long QT syndrome European Heart Journal. 38. DOI: 10.1093/Eurheartj/Ehx493.P5859 |
0.318 |
|
| 2017 |
Aradhya S, Patil N, Truty R, Riethmaier D, Elias L, Entezam A, Fuller A, Hambuch T, Hogue M, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Rabideau M, Westbrook J, ... ... Nussbaum R, et al. Deep sequencing multi-gene panel analysis is a useful first-tier test with a high diagnostic yield and broad mutation spectrum detection in childhood epilepsy Journal of the Neurological Sciences. 381: 85. DOI: 10.1016/J.Jns.2017.08.288 |
0.303 |
|
| 2016 |
Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. Journal of the American Society of Nephrology : Jasn. PMID 27895154 DOI: 10.1681/Asn.2016080913 |
0.307 |
|
| 2016 |
Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, ... ... Nussbaum R, et al. The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Research. 76: 2778-2790. PMID 27197267 DOI: 10.1158/0008-5472.Can-16-0186 |
0.337 |
|
| 2016 |
Lincoln SE, Cline M, Yang S, Kobayashi Y, Zhang M, O'Leary E, Topper S, Paten B, Nussbaum R. Variant classifications in BRCA1 and BRCA2: A systematic analysis of interlaboratory concordance Journal of Clinical Oncology. 34: 1592-1592. DOI: 10.1200/Jco.2016.34.15_Suppl.1592 |
0.3 |
|
| 2015 |
Candido-dos-Reis FJ, Song H, Goode EL, Cunningham JM, Fridley BL, Larson MC, Alsop K, Dicks E, Harrington P, Ramus SJ, de Fazio A, Mitchell G, Fereday S, Bolton KL, Gourley C, ... ... Nussbaum R, et al. Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 21: 652-7. PMID 25398451 DOI: 10.1158/1078-0432.Ccr-14-2497 |
0.309 |
|
| 2011 |
Bale S, Rehm HL, Nussbaum R, Hegde M, Den Dunnen JT, Willems P. Reply to Clarity and claims in variation/mutation databasing Nature Biotechnology. 29: 792-794. DOI: 10.1038/Nbt.1962 |
0.313 |
|
| 2005 |
Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters. 382: 191-4. PMID 15911147 DOI: 10.1016/J.Neulet.2005.03.015 |
0.322 |
|
| 2004 |
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology. 61: 1898-904. PMID 15596610 DOI: 10.1001/Archneur.61.12.1898 |
0.36 |
|
| 2004 |
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (New York, N.Y.). 304: 1158-60. PMID 15087508 DOI: 10.1126/Science.1096284 |
0.34 |
|
| 1992 |
Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL. Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. Genomics. 12: 526-33. PMID 1559703 |
0.382 |
|
| 1989 |
Lee JT, Nussbaum RL. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. The Journal of Clinical Investigation. 84: 1762-6. PMID 2556444 DOI: 10.1172/JCI114360 |
0.454 |
|
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