Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

F Tran Mau-Them; S Moutton; C Racine; A Vitobello; A L Bruel; S Nambot; Steven Kushner; Femke de Vrij; D Lehalle; N Jean-Marçais; F Lecoquierre; J Delanne; J Thevenon; C Poe; T Jouan; M Chevarin; D Geneviève; M Willems; C Coubes; N Houcinat; A Masurel-Paulet; AL Mosca-Boidron; E Tisserant; P Callier; A Sorlin; Y Duffourd; L Faivre; C Philippe; C Thauvin-Robinet

doi:10.1007/s00439-020-02178-8

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

F Tran Mau-Them, S Moutton, C Racine, A Vitobello, A L Bruel, S Nambot, Steven Kushner, Femke de Vrij, D Lehalle, N Jean-Marçais, F Lecoquierre, J Delanne, J Thevenon, C Poe, T Jouan, M Chevarin, D Geneviève, M Willems, C Coubes, N HoucinatA Masurel-Paulet, AL Mosca-Boidron, E Tisserant, P Callier, A Sorlin, Y Duffourd, L Faivre, C Philippe, C Thauvin-Robinet

Psychiatry

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

8 Citations (Scopus)

Original language	English
Pages (from-to)	1381-1390
Number of pages	10
Journal	Human Genetics
Volume	139
Issue number	11
DOIs	https://doi.org/10.1007/s00439-020-02178-8
Publication status	Published - 2020

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10.1007/s00439-020-02178-8

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Tran Mau-Them, F., Moutton, S., Racine, C., Vitobello, A., Bruel, A. L., Nambot, S., Kushner, S., de Vrij, F., Lehalle, D., Jean-Marçais, N., Lecoquierre, F., Delanne, J., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Geneviève, D., Willems, M., Coubes, C., ... Thauvin-Robinet, C. (2020). Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Human Genetics, 139(11), 1381-1390. https://doi.org/10.1007/s00439-020-02178-8

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title = "Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders",

author = "{Tran Mau-Them}, F and S Moutton and C Racine and A Vitobello and Bruel, {A L} and S Nambot and Steven Kushner and {de Vrij}, Femke and D Lehalle and N Jean-Mar{\c c}ais and F Lecoquierre and J Delanne and J Thevenon and C Poe and T Jouan and M Chevarin and D Genevi{\`e}ve and M Willems and C Coubes and N Houcinat and A Masurel-Paulet and AL Mosca-Boidron and E Tisserant and P Callier and A Sorlin and Y Duffourd and L Faivre and C Philippe and C Thauvin-Robinet",

year = "2020",

doi = "10.1007/s00439-020-02178-8",

language = "English",

volume = "139",

pages = "1381--1390",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer-Verlag",

number = "11",

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Tran Mau-Them, F, Moutton, S, Racine, C, Vitobello, A, Bruel, AL, Nambot, S, Kushner, S , de Vrij, F, Lehalle, D, Jean-Marçais, N, Lecoquierre, F, Delanne, J, Thevenon, J, Poe, C, Jouan, T, Chevarin, M, Geneviève, D, Willems, M, Coubes, C, Houcinat, N, Masurel-Paulet, A, Mosca-Boidron, AL, Tisserant, E, Callier, P, Sorlin, A, Duffourd, Y, Faivre, L, Philippe, C & Thauvin-Robinet, C 2020, 'Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders', Human Genetics, vol. 139, no. 11, pp. 1381-1390. https://doi.org/10.1007/s00439-020-02178-8

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. / Tran Mau-Them, F; Moutton, S; Racine, C et al.
In: Human Genetics, Vol. 139, No. 11, 2020, p. 1381-1390.

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

TY - JOUR

T1 - Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

AU - Tran Mau-Them, F

AU - Moutton, S

AU - Racine, C

AU - Vitobello, A

AU - Bruel, A L

AU - Nambot, S

AU - Kushner, Steven

AU - de Vrij, Femke

AU - Lehalle, D

AU - Jean-Marçais, N

AU - Lecoquierre, F

AU - Delanne, J

AU - Thevenon, J

AU - Poe, C

AU - Jouan, T

AU - Chevarin, M

AU - Geneviève, D

AU - Willems, M

AU - Coubes, C

AU - Houcinat, N

AU - Masurel-Paulet, A

AU - Mosca-Boidron, AL

AU - Tisserant, E

AU - Callier, P

AU - Sorlin, A

AU - Duffourd, Y

AU - Faivre, L

AU - Philippe, C

AU - Thauvin-Robinet, C

PY - 2020

Y1 - 2020

U2 - 10.1007/s00439-020-02178-8

DO - 10.1007/s00439-020-02178-8

M3 - Article

SN - 0340-6717

VL - 139

SP - 1381

EP - 1390

JO - Human Genetics

JF - Human Genetics

IS - 11

ER -