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1

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, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, DaphnÃ©, Jean-MarÃ§ais, Nolwenn,

Journal:

Year:

2020

File:

PDF, 685 KB

2020

2

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamar

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.49 MB

english, 2017

3

Rôle pathogène d’une mutation rare de la nicastrine identifiée par séquençage d’exome dans la maladie de Verneuil

Crépin, J.-C., Mau-Them, F. Tran, huther, M., Pasteur, J., Messikh, R., Sorlin, A., Carmignac, V., Thauvin, C., Faivre, L., Philippe, C., Jouan, T., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

Language:

french

File:

PDF, 108 KB

french, 2018

4

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Guissart, C., Dubucs, C., Raynal, C., Girardet, A., Tran Mau Them, F., Debant, V., Rouzier, C., Boureau-Wirth, A., Haquet, E., Puechberty, J., Bieth, E., Dupin Deguine, D., Khau Van Kien, P., Brechard

Journal:

Journal of Cystic Fibrosis

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

5

Prenatal presentation of Aicardi-Goutières Syndrome: Non-specific phenotype necessitates exome sequencing for definitive diagnosis

Bourgon, Nicolas, Lefebvre, Mathilde, Kuentz, Paul, Thevenon, Julien, Jouan, Thibaud, Duffourd, Yannis, Philippe, Christophe, Tran Mau-Them, Frédéric, Durand, Christine, Harizay, Faratanjona, Laurent,

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 473 KB

2019

6

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, D

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.68 MB

english, 2017

7

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Imbert-Bouteille, Marion, Mau Them, Frédéric Tran, Thevenon, Julien, Guignard, Thomas, Gatinois, Vincent, Riviere, Jean-Baptiste, Boland, Anne, Meyer, Vincent, Deleuze, Jean-François, Sanchez, Elodie,

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

8

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran-Mau-Them, F., Philipp

Journal:

European Journal of Medical Genetics

Year:

2018

File:

PDF, 913 KB

2018

9

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphn

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 582 KB

english, 2018

10

Mort fœtale in utero et placenta prævia recouvrant : la voie basse est possible

Roumeau, V., Tran Mau-Them, A., Rossi, A., Agar, N., Gallot, D.

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2016

Language:

french

File:

PDF, 243 KB

french, 2016

11

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Bruel, A.-L., Thevenon, J., Huet, F., Jean-Marcais, N., Odent, S., Dubourg, C., Lehalle, D., Tran Mau-Them, F., Philippe, C., Moutton, S., Houcinat, N., Gay, S., Guibaud, L., Duffourd, Y., Rivière, J.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 553 KB

english, 2018

12

783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing

Carmignac, V., Kuentz, P., Sorlin, A., Chevarin, M., Jouan, T., Duffourd, Y., Rivière, J., Poë, C., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Philippe, C., Vabres, P.

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

13

Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing

Sanchez, E, Grandemange, S, Mau-Them, F, Louis-Plence, P, Carbasse, A, Jeziorski, E, Picot, M-C, Girard, M, Tran, TA, Isidor, B, Poignant, S, Tiriau, S, Pillet, P, Jurquet, A-L, Touitou, I, Geneviève,

Journal:

Pediatric Rheumatology

Year:

2015

Language:

english

File:

PDF, 266 KB

english, 2015

14

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD ( NLRP1- associated autoinflammation with arthritis and dyskeratosis)

Grandemange, Sylvie, Sanchez, Elodie, Louis-Plence, Pascale, Tran Mau-Them, Frédéric, Bessis, Didier, Coubes, Christine, Frouin, Eric, Seyger, Marieke, Girard, Manon, Puechberty, Jacques, Costes, Valé

Journal:

Annals of the Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 725 KB

english, 2016

15

pH au cordon et encéphalopathie

Coste, K., Gallot, D., Tran-Mau-Them, A.

Journal:

Revue de médecine périnatale

Year:

2017

Language:

french

File:

PDF, 119 KB

french, 2017

16

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Yauy, Kevin, Tran Mau-Them, Frederic, Willems, Marjolaine, Coubes, Christine, Blanchet, Patricia, Herlin, Christian, Taleb Arrada, Ikram, Sanchez, Elodie, Faure, Jean-Michel, Le Gac, Marie-Pascale, Pr

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 612 KB

english, 2017

17

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, G

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 484 KB

english, 2014

18

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 629 KB

english, 2018

19

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, JÃ©rÃ©mie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Bo

Journal:

The American Journal of Human Genetics

Year:

2020

Language:

english

File:

PDF, 1.39 MB

english, 2020

20

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

Barat-Houari, Mouna, Baujat, Geneviève, Tran Mau Them, Frédéric, Fabre, Aurélie, Geneviève, David, Touitou, Isabelle

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.54 MB

english, 2016

21

Rôle pathogène d’une mutation rare de la nicastrine identifiée par séquençage d’exome dans la maladie de Verneuil

Crépin, J.-C., Mau-Them, F. Tran, huther, M., Pasteur, J., Messikh, R., Sorlin, A., Carmignac, V., Thauvin, C., Faivre, L., Philippe, C., Jouan, T., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

File:

PDF, 108 KB

2018

22

Syntélencéphalie et monosomie 21q partielle

Tran Mau-Them, A., Goumy, C., Delabaere, A., Laurichesse-Delmas, H., Lemery, D., Gallot, D.

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2015

Language:

french

File:

PDF, 614 KB

french, 2015

23

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

Guissart, Claire, Tran Mau Them, Frédéric, Debant, Vanessa, Viart, Victoria, Dubucs, Charlotte, Pritchard, Victoria, Rouzier, Cécile, Boureau-Wirth, Amandine, Haquet, Emmanuelle, Puechberty, Jacques,

Journal:

Fetal Diagnosis and Therapy

Year:

2018

Language:

english

File:

PDF, 571 KB

english, 2018

24

Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity

Tran Mau-Them, Frédéric, Boualam, Aurélia, Barat-Houari, Mouna, Jeandel, Claire, Cottalorda, Jérôme, Cormier-Daire, Valérie, Fabre, Aurélie, Dumont, Bruno, Lefort, Geneviève, Baujat, Geneviève, Le Mer

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.96 MB

english, 2014

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