All papers authored by Alain
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Martin Chevarin ,
Antonio Vitobello ,
Simon Verdez ,
Cyril Fournier ,
Alain Verloes ,
Emilie Tisserant,
Pierre Vabres,
Orlane Prevel,
Christophe Philippe ,
Anne-Sophie Denommé-Pichon ,
Ange-Line Bruel ,
Frédéric Tran Mau-Them ,
Hana Safraou,
Aïcha Boughalem
and 5 other authors
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
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Guillaume Cogan,
Anna Maruani,
Arnaud Maillard,
Céline Dupont,
Séverine Drunat,
Myriam Rachid,
Paola Atzori,
Richard Delorme,
Sabatini Jeyarajah,
Bertrand Isidor,
Olivier Pichon,
Kamran Moradkhani,
Alain Verloes ,
Anne‐Claude Tabet
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
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Christel Thauvin‐Robinet,
Alain Verloes ,
Adeline Jacquinet ,
Lyse Ruaud ,
Hélène Deleersnyder,
Faustine Ageorges,
Jennifer Gallard,
Jamal Ghoumid,
Didier Lacombe,
David Geneviève,
Sylvie Odent,
Natacha Lehman ,
Nicole Philip,
Myriam Mikaty
and 7 other authors
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
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Alain Verloes ,
Anne‐Claude Tabet ,
Bérénice Schell,
Hala Nasser,
Myriam Rachid,
Lyse Ruaud ,
Nathalie Couque ,
Patrick Callier,
Morgane Plutino,
Houda Karmous‐Benailly,
Laurence Faivre ,
Caroline Benech,
Sylvia Redon
and 9 other authors
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
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Julie Pernin-Grandjean,
Sébastien Marchasson,
Veronique Gaston ,
Christophe Habib,
Isabelle Meunier,
Sabine Sigaudy,
Josseline Kaplan,
Olivier Roche,
Danièle Denis,
Pierre Bitoun,
Damien Haye,
Alain Verloes ,
Patrick Calvas ,
Nicolas Chassaing
and 1 other authors
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
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Cécile Zordan,
Daphné Lehalle,
Renaud Touraine,
Stephanie Moortgat,
Christiane Zweier ,
Patrick Callier,
Sophie Naudion,
Alain Verloes ,
Valérie Benoit ,
Francis Ramond ,
Frédéric Tran Mau‐Them,
Jamal Ghoumid,
André Reis
and 17 other authors
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Frédéric Ebstein,
Geoffroy Delplancq ,
Blandine Dozieres‐Puyravel,
Aı̈cha Boughalem,
Stéphane Auvin,
Yannis Duffourd,
Sandro Klafack,
Barbara A. Zieba,
Karun K. Singh,
Sana Mahmoudi,
Laurence Duplomb ,
Christel Thauvin‐Robinet,
Jean‐Marc Costa,
Elke Krüger
and 4 other authors
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Marie-Cécile Nassogne,
Nina Powell-Hamilton,
Alfonso Caro-Llopis,
Thatjana Gardeitchik,
Rolph Pfundt,
Nicola S. Cooper,
Monica Rosello,
Bjørn I. Haukanes,
François-Guillaume Debray
and 18 other authors
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
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N. Cosemans,
A. Lulebo Mampasi,
G. Mubungu,
N. Mvuama,
T. Lubala,
S. Mbuyi-Musanzayi,
J. Breckpot,
M. Holvoet,
T. de Ravel ,
G. Van Buggenhout,
H. Peeters,
D. Donnai,
L. Mutesa,
A. Verloes
and 2 other authors
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
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Judith St-Onge,
Jean-Baptiste Riviere,
B. Demeer,
F. Petit,
P. Callier,
Geneviève Pierquin,
Christel Thauvin-Robinet,
Laurence Faivre,
Julien Thevenon
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
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Laïla El Khattabi,
Laı̈la El Khattabi,
Fabien Guimiot,
Eva Pipiras,
Joris Andrieux,
Séverine Drunat,
Clarisse Baumann,
Christelle Dubourg,
Céline Dupont
and 23 other authors
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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Nataliya Di Donato,
Julien Masliah-Planchon,
Marjolijn Jongmans,
Omar A. Abdul-Raman,
Beate Albrecht,
Judith Allanson,
Han Brunner,
Debora Bertola,
Albert David,
Nicolas Chassaing,
Koen Devriendt,
Pirayeh Eftekhari,
Valérie Drouin-Garraud,
Francesca Faravelli
and 37 other authors
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
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