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Na Zhu
Na Zhu
E-mailová adresa ověřena na: cumc.columbia.edu
Název
Citace
Citace
Rok
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
1302013
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
1272018
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
1232018
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
1002019
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
952020
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
892018
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
882019
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
752018
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
582021
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
512014
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
512013
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
432021
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
212015
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
52017
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
52015
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
51887
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
42019
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
42019
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