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All papers authored by Ange-Line Bruel

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2022 Daphné Lehalle

ORCID

, Ange‐Line Bruel

ORCID

, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon

ORCID

, Yannis Duffourd, Mirna Assoum, Jeanne Amiel, Geneviève Baujat, Bettina Bessieres, Stefania Bigoni

ORCID

, Lydie Burglen, Guillaume Captier, Rodolphe Dard, Patrick Edery, Fernanda Fortunato and 27 other authors

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

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2021 Anne-Sophie Denommé-Pichon

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, Antonio Vitobello

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, Alban Ziegler, Médéric Jeanne

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, Thibaud Jouan, Anne Boland

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, Bertrand Fin, Delphine Bacq-Daian, Victor Couturier, Céline Besse, Marie Vincent

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, Aurore Garde, Caroline Racine

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, Adeline Prost and 33 other authors

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

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Quentin Thomas

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, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Frédéric Tran Mau-Them

ORCID

, Agnès Fromont, Maurice Giroud, Guy-Victor Osseby, Benoit Daubail, Agnès Jacquin-Piques, Sophie Nambot, Thibault Moreau, Marie Hervieu-Begue, Arthur Sorlin, Philippine Garret and 9 other authors

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

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This paper was not found in any repository, but could be made available legally by the author.

Geeske M. Woerden

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, Melanie Bos, Charlotte Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E. Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L. Erwin, Karen W. Gripp, Fatima Rehman, Saskia Brulleman, Róisín Mc Cormack and 32 other authors

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

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Auriane Cospain

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, Elise Schaefer, Marie Faoucher, Christèle Dubourg, Wilfrid Carré, Varoona Bizaoui, Jessica Assoumani, Frédéric Tran Mau‐Them, Lionel Van Maldergem, Frédéric Tran Mau‐Them, Ange‐Line Bruel

ORCID

, Amélie Piton, Laurence Faivre, Bénédicte Gérard, Florence Demurger and 4 other authors

Skraban‐Deardorff syndrome: six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype

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2020 Catherine Vincent‐Delorme, Annick Toutain, Yann Trousselet, Fanny Tessier, Frederic Tran Mau‐Them, Antonio Vitobello

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, Christel Thauvin‐Robinet, Aurore Garde

ORCID

, Arthur Sorlin

ORCID

, Fabienne Prieur, Sébastien Moutton, Amélie Piton, Sylvie Odent, Claire Nicolas, Catherine Sarret and 28 other authors

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

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Aude Tessier

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, Judite de Oliveira, Lucile Boutaud, Ange‐Line Bruel

ORCID

, Christel Thauvin‐Robinet, Philippe Roth, Valérie Malan, Marie‐Paule Beaujard, Amale Achaiaa, Judite Oliveira, Julie Steffann, Ferechte Encha‐Razavi, Laurence Faivre, Bettina Bessières, Tania Attié‐Bitach

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Hydrothorax in fetal cases of Opitz G/ BBB diagnosis: Extending the phenotype?

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Valerie Wolff, Jessica Woodley, Pierre Vabres, Harriet Walker, Alison Foster

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, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Ange‐Line Bruel

ORCID

, Rebecca Keelagher, Christel Thauvin‐Robinet, Gavin Ryan, Marc Bardou, Maxime Luu, Quentin Thomas and 13 other authors

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

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Ange‐Line Bruel

ORCID

, Antonio Vitobello

ORCID

, Frédéric Tran Mau‐Them, Sophie Nambot

ORCID

, Arthur Sorlin, Frédéric Tran Mau‐Them

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, Anne‐Sophie Denommé‐Pichon

ORCID

, Sébastien Moutton, Julian Delanne, Christophe Philippe, Patrick Callier, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre

Next‐Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

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2019 Antonio Vitobello

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, Philippine Garret

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, Detlef Trost, Céline Bris

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, Vincent Procaccio

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, Pierre Vabres

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, Patrizia Amati‐Bonneau, Nada Houcinat, Ange‐Line Bruel

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, Emilie Tisserant, François Feillet

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, Christophe Philippe

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, Arthur Sorlin

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, Frédéric Tran Mau‐Them

ORCID

, Jean‐Marc Costa and 5 other authors

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

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2018 A. Vitobello, S. Moutton

ORCID

, Frederic Tran-Mau-Them

ORCID

, C. Thauvin-Robinet, A.-L. Bruel

ORCID

, M. Assoum, M. Chevarin, E. Sarrazin, C. Goizet, A.-M. Guerrot, A. Charollais, A. Faudet, N. Houcinat, P. Charles, C. Philippe and 3 other authors

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

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A.-L. Bruel

ORCID

, J. Levy

ORCID

, N. Elenga, A. Defo, A. Favre, H. Lucron, Y. Capri, L. Perrin, S. Passemard, A.-C. Tabet, L. Faivre, Y. Vial, C. Thauvin-Robinet, A. Verloes

ORCID

INTU -related oral-facial-digital syndrome type VI: A confirmatory report

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Al-L. Bruel

ORCID

, Frederic Tran Mau-Them

ORCID

ORCID

, F. Huet, N. Jean-Marcais, S. Odent, C. Dubourg, D. Lehalle, N. Houcinat, S. Gay, C. Philippe, L. Guibaud, S. Moutton, F. Tran Mau-Them, Y. Duffourd and 3 other authors

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

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Atg T. G. Chiu, Slc L. C. Pei, Ccy C. Y. Mak, Gkc K. C. Leung, Mhc H. C. Yu, Sl L. Lee, T. M.-T. Frederic, M. Vreeburg, S. Nambot

ORCID

, R. Pfundt, L. Faivre, A.-L. Bruel

ORCID

, I. van der Burgt, M. Rossi, B. Isidor and 7 other authors

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

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