| Year |
Citation |
Score |
| 2020 |
Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, et al. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurology. Genetics. 6: e498. PMID 32802956 DOI: 10.1212/Nxg.0000000000000498 |
0.368 |
|
| 2019 |
Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Medicine. 11: 80. PMID 31818324 DOI: 10.1186/S13073-019-0676-0 |
0.37 |
|
| 2019 |
Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan K, Waldrop M, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, et al. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Human Mutation. PMID 31696996 DOI: 10.1002/Humu.23950 |
0.317 |
|
| 2019 |
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, ... ... Gu S, et al. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. American Journal of Human Genetics. PMID 31230720 DOI: 10.1016/J.Ajhg.2019.05.015 |
0.385 |
|
| 2019 |
Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, ... Gu S, et al. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine. 11: 30. PMID 31101064 DOI: 10.1186/S13073-019-0639-5 |
0.342 |
|
| 2019 |
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, et al. Genetic architecture of laterality defects revealed by whole exome sequencing. European Journal of Human Genetics : Ejhg. PMID 30622330 DOI: 10.1038/S41431-018-0307-Z |
0.352 |
|
| 2018 |
Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Research. PMID 29907612 DOI: 10.1101/Gr.229401.117 |
0.358 |
|
| 2018 |
Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation. PMID 29696747 DOI: 10.1002/Humu.23537 |
0.352 |
|
| 2016 |
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research. PMID 27980096 DOI: 10.1093/Nar/Gkw1237 |
0.363 |
|
| 2016 |
Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, et al. Mechanisms for Complex Chromosomal Insertions. Plos Genetics. 12: e1006446. PMID 27880765 DOI: 10.1371/Journal.Pgen.1006446 |
0.352 |
|
| 2016 |
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27657687 DOI: 10.1038/Gim.2016.131 |
0.312 |
|
| 2016 |
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, et al. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. The Journal of Allergy and Clinical Immunology. PMID 27577878 DOI: 10.1016/J.Jaci.2016.05.042 |
0.33 |
|
| 2016 |
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Bmc Medical Genomics. 9: 42. PMID 27435318 DOI: 10.1186/S12920-016-0208-3 |
0.353 |
|
| 2016 |
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Human Genetics. PMID 27386852 DOI: 10.1007/S00439-016-1703-5 |
0.385 |
|
| 2016 |
Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, et al. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Molecular Genetics & Genomic Medicine. 4: 77-94. PMID 26788539 DOI: 10.1002/Mgg3.181 |
0.303 |
|
| 2015 |
Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Human Mutation. PMID 26549411 DOI: 10.1002/Humu.22929 |
0.33 |
|
| 2015 |
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. American Journal of Human Genetics. 97: 691-707. PMID 26544804 DOI: 10.1016/J.Ajhg.2015.10.003 |
0.396 |
|
| 2015 |
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics. 24: 4061-77. PMID 25908615 DOI: 10.1093/Hmg/Ddv146 |
0.373 |
|
| 2015 |
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation. 125: 636-51. PMID 25574841 DOI: 10.1172/Jci77435 |
0.321 |
|
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