| PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome PM Krawitz, Y Murakami, A Rieß, M Hietala, U Krüger, N Zhu, T Kinoshita, ... The American Journal of Human Genetics 92 (4), 584-589, 2013 | 130 | 2013 |
| Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease N Zhu, CL Welch, J Wang, PM Allen, C Gonzaga-Jauregui, L Ma, AK King, ... Genome medicine 10, 1-11, 2018 | 128 | 2018 |
| Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults N Zhu, C Gonzaga-Jauregui, CL Welch, L Ma, H Qi, AK King, U Krishnan, ... Circulation: Genomic and Precision Medicine 11 (4), e001887, 2018 | 124 | 2018 |
| Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension N Zhu, MW Pauciulo, CL Welch, KA Lutz, AW Coleman, ... Genome medicine 11, 1-16, 2019 | 103 | 2019 |
| Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension F Potus, MW Pauciulo, EK Cook, N Zhu, A Hsieh, CL Welch, Y Shen, ... Circulation 141 (24), 1986-2000, 2020 | 97 | 2020 |
| De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders H Qi, L Yu, X Zhou, J Wynn, H Zhao, Y Guo, N Zhu, A Kitaygorodsky, ... PLoS genetics 14 (12), e1007822, 2018 | 91 | 2018 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 89 | 2019 |
| Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension MS Bohnen, L Ma, N Zhu, H Qi, C McClenaghan, C Gonzaga-Jauregui, ... Circulation: Genomic and Precision Medicine 11 (10), e002087, 2018 | 77 | 2018 |
| Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH N Zhu, EM Swietlik, CL Welch, MW Pauciulo, JJ Hagen, X Zhou, Y Guo, ... Genome medicine 13 (1), 80, 2021 | 59 | 2021 |
| Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N Ehmke, A Caliebe, R Koenig, SG Kant, Z Stark, V Cormier-Daire, ... The American Journal of Human Genetics 95 (6), 763-770, 2014 | 51 | 2014 |
| Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees T Kamphans, P Sabri, N Zhu, V Heinrich, S Mundlos, PN Robinson, ... PLoS One 8 (8), e70151, 2013 | 51 | 2013 |
| Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension EM Swietlik, D Greene, N Zhu, K Megy, M Cogliano, S Rajaram, ... Circulation: Genomic and Precision Medicine 14 (1), e003155, 2021 | 43 | 2021 |
| The genomic birthday paradox: how much is enough? P Krawitz, O Buske, N Zhu, M Brudno, PN Robinson Human mutation 36 (10), 989-997, 2015 | 21 | 2015 |
| Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research-Rare Diseases, National Cohort Study of Idiopathic and … N Zhu, EM Swietlik, CL Welch, MW Pauciulo, JJ Hagen, X Zhou, Y Guo, ... Rare variant analysis of 4241, 0 | 7 | |
| Genetic analysis of de novo variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates MYRF as a candidate gene H Qi, L Yu, X Zhou, A Kitaygorodsky, J Wynn, N Zhu, G Aspelund, FY Lim, ... bioRxiv, 206037, 2017 | 5 | 2017 |
| Strategies to improve the performance of rare variant association studies by optimizing the selection of controls N Zhu, V Heinrich, T Dickhaus, J Hecht, PN Robinson, S Mundlos, ... Bioinformatics 31 (22), 3577-3583, 2015 | 5 | 2015 |
| Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults. Circ Genom Precis Med [Internet]. 2018 N Zhu, C Gonzaga-Jauregui, CL Welch, L Ma, H Qi, AK King, U Krishnan, ... PubMed, 1887 | 5 | 1887 |
| Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019; 11 (1): 69 N Zhu, MW Pauciulo, CL Welch, KA Lutz, AW Coleman, ... Insuf Card 2020; 15 (1): 10 18, 0 | 5 | |
| Reduced transfer coefficient of carbon monoxide in pulmonary arterial hypertension implicates rare protein-truncating variants in KDR EM Swietlik, D Greene, N Zhu, K Megy, M Cogliano, S Rajaram, ... BioRxiv, 2019.12. 11.871210, 2019 | 4 | 2019 |
| PAH Biobank Enrolling Centers’ Investigators Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension N Zhu, MW Pauciulo, CL Welch, KA Lutz, AW Coleman, ... Genome Med 11, 69, 2019 | 4 | 2019 |
