Christophe Philippe - Dissemin

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Papers authored by Christophe Philippe

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2020 A. Garde, F. Tran Mau-Them, S. Nambot, M. Fradin, S. Odent, Y. Duffour, S. Banka, C. Philippe

ORCID

, C. Thauvin-Robinet, L. Faivre

ORCID

Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe

ORCID

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13. 31 microdeletion including ZBTB20

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2019 Antonio Vitobello

ORCID

, Philippine Garret

ORCID

ORCID

, Patrizia Amati‐Bonneau, Vincent Procaccio

ORCID

, Pierre Vabres

ORCID

, Nada Houcinat, Ange‐Line Bruel

ORCID

, Emilie Tisserant, Detlef Trost, Christophe Philippe

ORCID

, François Feillet

ORCID

, Arthur Sorlin

ORCID

, 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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Janet Toribio, Holly Stessman, Marieke Wermuth, Fan Xia, Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Fowzan S. Alkuraya, Alan F. Rope, Rafael Mena, Sarah Rosenheck, Carlos E. Prada, Sébastien Moutton and 14 other authors

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

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Frédéric Tran Mau‐Them

ORCID

, Nicolas Bourgon

ORCID

, Mathilde Lefebvre

ORCID

ORCID

, Julien Thevenon, Thibaud Jouan, Yannis Duffourd, Christophe Philippe

ORCID

, Nicole Laurent, Christine Durand, Frederic Tran Mau-Them, Thierry Rousseau, Laurence Faivre, Faratanjona Harizay, Christel Thauvin‐Robinet

Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Y. Duffourd, E. Tisserant, A. Plagos, P. Callier, F. Mau Tran-Them, A. Bruel, A. Denomme-Pichon, C. Philippe

ORCID

, B. Isidor, S. Heide

Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

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2018 Frederic Tran Mau-Them

ORCID

ORCID

ORCID

, F. Huet, N. Jean-Marcais, S. Odent, C. Dubourg, N. Houcinat, S. Gay, D. Lehalle, L. Guibaud, C. Philippe

ORCID

, F. Tran Mau-Them, Y. Duffourd, S. Moutton 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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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Minh-Tuan Huynh, Anne-Sophie Lambert, Lucie Tosca, François Petit, Christophe Philippe

ORCID

, Frédéric Parisot, Virginie Benoı̂t, Agnès Linglart, Sophie Brisset, Cong Toai Tran

15q24. 1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24. 2q24. 3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia

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2016 Salima El Chehadeh, Patrick Callier, R. Touraine, N. Le Meur, Anne-Laure Mosca-Boidron, F. Prieur, A. Goldenberg, A.-M. Guerrot, W. Reardon, Francine Mugneret, P. Chambon, V. Satre, T. Bienvenu, C. Coutton, P.-S. Jouk and 28 other authors

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

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Philippe Philippe, Veronique Latger-Cannard, Christophe Philippe

ORCID

, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Aline Renneville

ORCID

, Annick Ankri, Anne Bauters, Hagay Sobol, Sophie Bayart, Claude Preudhomme, Marie-Joelle Mozziconacci, Pascale Cornillet-Lefebvre, Sylvie Daliphard and 6 other authors

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

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Mirna Assoum, Christophe Philippe

ORCID

, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Hanan Hamamy, Thibaud Jouan, Caroline Paris, Jessica Douglas, Yannis Duffourd, Stéphane Auvin, Gaetan Lesca

ORCID

, Dorothée Ville, Aline Saunier and 19 other authors

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

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2015 Mylène Valduga, Christophe Philippe

ORCID

, Laetitia Lambert, Pascale Bach-Segura, Emmanuelle Schmitt, Jean Pierre Masutti, Bénédicte François, Patrick Pinaud, Mireille Vibert, Philippe Jonveaux

WWOX and severe autosomal recessive epileptic encephalopathy: First case in the prenatal period

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2013 Julie Auger, Céline Bonnet, Mylène Valduga, Christophe Philippe

ORCID

, Emmanuelle Bertolo-Houriez, Mylène Beri-Dexheimer, Cyril Schweitzer, Bruno Leheup, Philippe Jonveaux

De Novo Complex X Chromosome Rearrangement Unmasking Maternally Inherited CSF2RA Deletion in a Girl With Pulmonary Alveolar Proteinosis

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Céline Bonnet, Asma Ali Khan, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Sarah Lejczak, Bénédicte Deemer, Joris Andrieux, Christophe Philippe

ORCID

, Irina Giurgea, Marie-Dominique Devignes, Anne Moncla, Bruno Leheup, Philippe Jonveaux

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

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2012 C. Thauvin-Robinet, S. Thomas, M. Sinico, B. Aral, L. Burglen, R. Touraine, N. Gigot, H. Dollfus, C. Badens, S. Rossignol, C. Gomes, M. Raynaud, M. Vekemans, B. Franco, C. Philippe

ORCID

and 10 other authors

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

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

Minh Tuan Huynh, Mylène Béri-Dexheimer, Céline Bonnet, Myriam Bronner, Asma Ali Khan, Lila Allou, Christophe Philippe

ORCID

, Jacqueline Vigneron, Philippe Jonveaux

RUNX1T1 , a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

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2011 Céline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, Mylène Béri-Dexheimer, Patrick Callier, Francine Mugneret, Christophe Philippe

ORCID

, Christel Thauvin-Robinet, Laurence Faivre

ORCID

, Philippe Jonveaux

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

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Véronique Latger-Cannard, Christophe Philippe

ORCID

, Philippe Jonveaux, Thomas Lecompte, Rémi Favier

Dysmegakaryopoiesis, a Clue for an Early Diagnosis of Familial Platelet Disorder With Propensity to Acute Myeloid Leukemia in Case of Unexplained Inherited Thrombocytopenia Associated With Normal-sized Platelets

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Claire Beneteau, Emilie Landais, Martine Doco-Fenzy, Cyrille Gavazzi, Christophe Philippe

ORCID

, Mylène Béri-Dexheimer, Céline Bonnet, Jacqueline Vigneron, Pierre Walrafen, Jacques Motte

Microtriplication of 11q24. 1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

T. Lecompte, Latger-Cannard, A. Bouquet, C. Philippe

ORCID

, C. Preudhomme, P. Jonveaux, T. Lecompte, R. Favier

Inherited thrombocytopenia with RUNX1 variants: new French cases with point mutations or large deletions and evidence for a defect in dense granules: P-TH-084

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