| Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation G Trivellin, AF Daly, FR Faucz, B Yuan, L Rostomyan, DO Larco, ... New England Journal of Medicine 371 (25), 2363-2374, 2014 | 327 | 2014 |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 292 | 2015 |
| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 277 | 2017 |
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ... The American Journal of Human Genetics 95 (2), 173-182, 2014 | 275 | 2014 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 222 | 2019 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 181 | 2015 |
| X-linked acrogigantism syndrome: clinical profile and therapeutic responses A Beckers, MB Lodish, G Trivellin, L Rostomyan, M Lee, FR Faucz, ... Endocrine-related cancer 22 (3), 353-367, 2015 | 178 | 2015 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 171 | 2016 |
| Analysis of the ABCA4 genomic locus in Stargardt disease J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ... Human molecular genetics 23 (25), 6797-6806, 2014 | 148 | 2014 |
| Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study D Iacovazzo, R Caswell, B Bunce, S Jose, B Yuan, ... Acta neuropathologica communications 4, 1-12, 2016 | 118 | 2016 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 116 | 2017 |
| De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 115 | 2017 |
| The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles PM Boone, B Yuan, IM Campbell, JC Scull, MA Withers, BC Baggett, ... The American Journal of Human Genetics 95 (2), 143-161, 2014 | 104 | 2014 |
| Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 S Gu, BO Yuan, IM Campbell, CR Beck, CMB Carvalho, SCS Nagamani, ... Human molecular genetics 24 (14), 4061-4077, 2015 | 96 | 2015 |
| Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects AF Daly, B Yuan, F Fina, JH Caberg, G Trivellin, L Rostomyan, ... Endocrine-Related Cancer 23 (4), 221-233, 2016 | 90 | 2016 |
| An organismal CNV mutator phenotype restricted to early human development P Liu, B Yuan, CMB Carvalho, A Wuster, K Walter, L Zhang, T Gambin, ... Cell 168 (5), 830-842. e7, 2017 | 70 | 2017 |
| Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication CR Beck, CMB Carvalho, L Banser, T Gambin, D Stubbolo, B Yuan, ... PLoS genetics 11 (3), e1005050, 2015 | 69 | 2015 |
| The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating … J Liu, Y Zhou, S Liu, X Song, XZ Yang, Y Fan, W Chen, ZC Akdemir, Z Yan, ... Human genetics 137, 553-567, 2018 | 67 | 2018 |
| Megabase length hypermutation accompanies human structural variation at 17p11. 2 CR Beck, CMB Carvalho, ZC Akdemir, FJ Sedlazeck, X Song, Q Meng, ... Cell 176 (6), 1310-1324. e10, 2019 | 65 | 2019 |
| Identification of novel candidate disease genes from de novo exonic copy number variants T Gambin, B Yuan, W Bi, P Liu, JA Rosenfeld, Z Coban-Akdemir, ... Genome medicine 9, 1-15, 2017 | 63 | 2017 |
Pengfei LiuMolecular and Human Genetics, Baylor College of MedicineVerified email at bcm.edu
