| Clinical whole-exome sequencing for the diagnosis of mendelian disorders Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ... New England Journal of Medicine 369 (16), 1502-1511, 2013 | 2220 | 2013 |
| Molecular findings among patients referred for clinical whole-exome sequencing Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ... Jama 312 (18), 1870-1879, 2014 | 1463 | 2014 |
| MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells Z Niu, SM Goodyear, S Rao, X Wu, JW Tobias, MR Avarbock, RL Brinster Proceedings of the National Academy of Sciences 108 (31), 12740-12745, 2011 | 313 | 2011 |
| Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ... Human mutation 34 (2), 385-394, 2013 | 252 | 2013 |
| Molecular diagnostic experience of whole-exome sequencing in adult patients JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ... Genetics in Medicine 18 (7), 678-685, 2016 | 224 | 2016 |
| Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells Y Liu, M Asakura, H Inoue, T Nakamura, M Sano, Z Niu, M Chen, ... Proceedings of the National Academy of Sciences 104 (10), 3859-3864, 2007 | 207 | 2007 |
| Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets Z Niu, W Yu, SX Zhang, M Barron, NS Belaguli, MD Schneider, ... Journal of Biological Chemistry 280 (37), 32531-32538, 2005 | 152 | 2005 |
| Serum response factor micromanaging cardiogenesis Z Niu, A Li, SX Zhang, RJ Schwartz Current opinion in cell biology 19 (6), 618-627, 2007 | 148 | 2007 |
| Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart Z Niu, D Iyer, SJ Conway, JF Martin, K Ivey, D Srivastava, A Nordheim, ... Proceedings of the National Academy of Sciences 105 (46), 17824-17829, 2008 | 134 | 2008 |
| Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ... The American Journal of Human Genetics 95 (5), 579-583, 2014 | 108 | 2014 |
| POGZ truncating alleles cause syndromic intellectual disability J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ... Genome Medicine 8, 1-11, 2016 | 96 | 2016 |
| Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m. 8969G> A) in the mitochondrial encoded ATP6 gene LC Burrage, S Tang, J Wang, TR Donti, M Walkiewicz, JM Luchak, ... Molecular genetics and metabolism 113 (3), 207-212, 2014 | 87 | 2014 |
| SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin D Li, Z Niu, W Yu, Y Qian, Q Wang, Q Li, Z Yi, J Luo, X Wu, Y Wang, ... Nucleic acids research 37 (21), 7059-7071, 2009 | 73 | 2009 |
| Hepatocellular carcinoma associated with tight‐junction protein 2 deficiency S Zhou, PM Hertel, MJ Finegold, L Wang, N Kerkar, J Wang, LJC Wong, ... Hepatology 62 (6), 1914-1916, 2015 | 72 | 2015 |
| In vivo and in vitro aging is detrimental to mouse spermatogonial stem cell function JA Schmidt, LK Abramowitz, H Kubota, X Wu, Z Niu, MR Avarbock, ... Biology of reproduction 84 (4), 698-706, 2011 | 62 | 2011 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ... Molecular psychiatry 23 (2), 222-230, 2018 | 59 | 2018 |
| WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11. 23 microdeletion … C DeSanto, K D'Aco, GC Araujo, N Shannon, H Vernon, A Rahrig, ... Journal of medical genetics 52 (11), 754-761, 2015 | 49 | 2015 |
| Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 JM Martinez‐Thompson, Z Niu, JA Tracy, SA Moore, A Swenson, ... Muscle & nerve 57 (4), 679-683, 2018 | 42 | 2018 |
| Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the … C Kaiwar, MT Zimmermann, MJ Ferber, Z Niu, RA Urrutia, EW Klee, ... Molecular Case Studies 3 (6), a002162, 2017 | 41 | 2017 |
| Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2) NJ Boczek, CA Lahner, T Nguyen, MJ Ferber, L Hasadsri, EC Thorland, ... American Journal of Medical Genetics Part A 176 (12), 2798-2802, 2018 | 39 | 2018 |
