| Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1086 | 2014 |
| Effect of genetic diagnosis on patients with previously undiagnosed disease K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ... New England Journal of Medicine 379 (22), 2131-2139, 2018 | 327 | 2018 |
| A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors L Mandal, JA Martinez-Agosto, CJ Evans, V Hartenstein, U Banerjee Nature 446 (7133), 320-324, 2007 | 314 | 2007 |
| The hematopoietic stem cell and its niche: a comparative view JA Martinez-Agosto, HKA Mikkola, V Hartenstein, U Banerjee Genes & development 21 (23), 3044-3060, 2007 | 300 | 2007 |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 278 | 2019 |
| Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies KM Keppler‐Noreuil, VER Parker, TN Darling, JA Martinez‐Agosto American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2016 | 253 | 2016 |
| Single-gene disorders: what role could moonlighting enzymes play? G Sriram, JA Martinez, ERB McCabe, JC Liao, KM Dipple The American Journal of Human Genetics 76 (6), 911-924, 2005 | 252 | 2005 |
| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, ... Nature genetics 44 (7), 788-792, 2012 | 204 | 2012 |
| Interaction between differentiating cell-and niche-derived signals in hematopoietic progenitor maintenance BC Mondal, T Mukherjee, L Mandal, CJ Evans, SA Sinenko, ... Cell 147 (7), 1589-1600, 2011 | 201 | 2011 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 197 | 2017 |
| Model organisms facilitate rare disease diagnosis and therapeutic research MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ... Genetics 207 (1), 9-27, 2017 | 184 | 2017 |
| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ... Genetics in Medicine 22 (3), 490-499, 2020 | 155 | 2020 |
| Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila SA Sinenko, L Mandal, JA Martinez-Agosto, U Banerjee Developmental cell 16 (5), 756-763, 2009 | 155 | 2009 |
| Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... The American Journal of Human Genetics 102 (6), 1126-1142, 2018 | 151 | 2018 |
| Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma/DICER1 syndrome: a unique variant of the two-hit … M Brenneman, A Field, J Yang, G Williams, L Doros, C Rossi, KA Schultz, ... F1000Research 4, 2015 | 145 | 2015 |
| DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies J Ji, H Lee, B Argiropoulos, N Dorrani, J Mann, JA Martinez-Agosto, ... European Journal of Human Genetics 23 (11), 1473-1481, 2015 | 130 | 2015 |
| Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion AR Stiles, MT Simon, A Stover, S Eftekharian, N Khanlou, HL Wang, ... Molecular genetics and metabolism 119 (1-2), 91-99, 2016 | 120 | 2016 |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ... The Journal of clinical investigation 131 (1), 2021 | 115 | 2021 |
| Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review F Quintero‐Rivera, P Sharifi‐Hannauer, JA Martinez‐Agosto American journal of medical genetics Part A 152 (10), 2459-2467, 2010 | 111 | 2010 |
| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 106 | 2018 |
Stan NelsonProfessor of Human Genetics, UCLA在 ucla.edu 的电子邮件经过验证
