Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

HY Cheng; L Gottlieb; E Marchi; R Kleyner; P Bhardwaj; AF Rope; S Rosenheck; S Moutton; C Philippe; W Eyaid; FS Alkuraya; J Toribio; R Mena; CE Prada; H Stessman; R Bernier; M Wermuth; B Kauffmann; B Blaumeiser; RF Kooy; D Baralle; Grazia Verheijen - Mancini; SJ Conway; F Xia; Z Chen; LY Meng; L Mihajlovic; R Marmorstein; GJ Lyon

doi:10.1093/hmg/ddz111

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

HY Cheng, L Gottlieb, E Marchi, R Kleyner, P Bhardwaj, AF Rope, S Rosenheck, S Moutton, C Philippe, W Eyaid, FS Alkuraya, J Toribio, R Mena, CE Prada, H Stessman, R Bernier, M Wermuth, B Kauffmann, B Blaumeiser, RF KooyD Baralle, Grazia Verheijen - Mancini, SJ Conway, F Xia, Z Chen, LY Meng, L Mihajlovic, R Marmorstein, GJ Lyon

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

41 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	2900-2919
Number of pages	20
Journal	Human Molecular Genetics
Volume	28
Issue number	17
DOIs	https://doi.org/10.1093/hmg/ddz111
Publication status	Published - 2019

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EMC OR-01

Access to Document

10.1093/hmg/ddz111

http://hdl.handle.net/1765/121219

Cite this

Cheng, HY., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, AF., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, FS., Toribio, J., Mena, R., Prada, CE., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., ... Lyon, GJ. (2019). Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics, 28(17), 2900-2919. https://doi.org/10.1093/hmg/ddz111

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author = "HY Cheng and L Gottlieb and E Marchi and R Kleyner and P Bhardwaj and AF Rope and S Rosenheck and S Moutton and C Philippe and W Eyaid and FS Alkuraya and J Toribio and R Mena and CE Prada and H Stessman and R Bernier and M Wermuth and B Kauffmann and B Blaumeiser and RF Kooy and D Baralle and {Verheijen - Mancini}, Grazia and SJ Conway and F Xia and Z Chen and LY Meng and L Mihajlovic and R Marmorstein and GJ Lyon",

year = "2019",

doi = "10.1093/hmg/ddz111",

language = "Undefined/Unknown",

volume = "28",

pages = "2900--2919",

journal = "Human Molecular Genetics",

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Cheng, HY, Gottlieb, L, Marchi, E, Kleyner, R, Bhardwaj, P, Rope, AF, Rosenheck, S, Moutton, S, Philippe, C, Eyaid, W, Alkuraya, FS, Toribio, J, Mena, R, Prada, CE, Stessman, H, Bernier, R, Wermuth, M, Kauffmann, B, Blaumeiser, B, Kooy, RF, Baralle, D, Verheijen - Mancini, G, Conway, SJ, Xia, F, Chen, Z, Meng, LY, Mihajlovic, L, Marmorstein, R & Lyon, GJ 2019, 'Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15', Human Molecular Genetics, vol. 28, no. 17, pp. 2900-2919. https://doi.org/10.1093/hmg/ddz111

TY - JOUR

T1 - Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

AU - Cheng, HY

AU - Gottlieb, L

AU - Marchi, E

AU - Kleyner, R

AU - Bhardwaj, P

AU - Rope, AF

AU - Rosenheck, S

AU - Moutton, S

AU - Philippe, C

AU - Eyaid, W

AU - Alkuraya, FS

AU - Toribio, J

AU - Mena, R

AU - Prada, CE

AU - Stessman, H

AU - Bernier, R

AU - Wermuth, M

AU - Kauffmann, B

AU - Blaumeiser, B

AU - Kooy, RF

AU - Baralle, D

AU - Verheijen - Mancini, Grazia

AU - Conway, SJ

AU - Xia, F

AU - Chen, Z

AU - Meng, LY

AU - Mihajlovic, L

AU - Marmorstein, R

AU - Lyon, GJ

PY - 2019

Y1 - 2019

U2 - 10.1093/hmg/ddz111

DO - 10.1093/hmg/ddz111

M3 - Article

SN - 0964-6906

VL - 28

SP - 2900

EP - 2919

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 17

ER -