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authFullName_s : Jeanne Amiel
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

TP63 gene mutation in ADULT syndrome

Jeanne Amiel , Gaëlle Bougeard , Christine Francannet , Valérie Raclin , Arnold Munnich et al.
European Journal of Human Genetics, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩
Journal articles hal-03106954v1

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin , Karine Siquier-Pernet , Michael Nicouleau , Giulia Barcia , Ali Ahmad et al.
Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Journal articles hal-02017665v1

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Laurence Colleaux , Marlène Rio , Solange Heuertz , Séverine Moindrault , Catherine Turleau et al.
European Journal of Human Genetics, 2001, 9 (5), pp.319-327. ⟨10.1038/sj.ejhg.5200591⟩
Journal articles hal-02090216v1

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Loïc de Pontual , Virginie Népote , Tania Attié-Bitach , Hassan Al Halabiah , Ha Trang et al.
Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
Journal articles hal-02342800v1
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Lauren Mascibroda , Mohammad Shboul , Nathan Elrod , Laurence Colleaux , Hanan Hamamy et al.
Nature Communications, 2022, 13 (1), pp.6054. ⟨10.1038/s41467-022-33547-8⟩
Journal articles hal-03820934v1

Contiguous mutation syndrome in the era of high-throughput sequencing

Maéva Langouët Langouët , Karine Siquier-Pernet , Sylvia Sanquer , Christine Bole-Feysot , Patrick Nitschke et al.
Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.215-220. ⟨10.1002/mgg3.134⟩
Journal articles hal-02087771v1
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Samira Ait-El-Mkadem , Manal Dayem-Quere , Mirjana Gusic , Annabelle Chaussenot , Sylvie Bannwarth et al.
American Journal of Human Genetics, 2017, 100 (1), pp.151--159. ⟨10.1016/j.ajhg.2016.11.014⟩
Journal articles hal-02185218v1

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin-Robinet , Martine Auclair , Laurence Duplomb , Martine Caron-Debarle , Magali Avila et al.
American Journal of Human Genetics, 2013, 93 (1), pp.141-149. ⟨10.1016/j.ajhg.2013.05.019⟩
Journal articles hal-01064045v1
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphael Carapito , Ekaterina L. Ivanova , Aurore Morlon , Linyan Meng , Anne Molitor et al.
American Journal of Human Genetics, 2019, 104, pp.319 - 330. ⟨10.1016/j.ajhg.2018.12.007⟩
Journal articles hal-03486684v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Nadège Bondurand , Florence Dastot-Le Moal , Laure Stanchina , Nathalie Collot , Viviane Baral et al.
American Journal of Human Genetics, 2007, 81 (6), pp.1169-85. ⟨10.1086/522090⟩
Journal articles inserm-00196715v1

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion

Carolyn Jackson , Alain Lefèvre-Utile , Anne Guimier , Valérie Malan , Julie Bruneau et al.
American Journal of Medical Genetics Part A, 2017, 173 (7), pp.1858-1865. ⟨10.1002/ajmg.a.38275⟩
Journal articles pasteur-03208057v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Laïla El Khattabi , Sylvie Jaillard , Joris Andrieux , Laurent Pasquier , Laurence Perrin et al.
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
Journal articles istex hal-01165441v1

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari , Bruno Dumont , Aurelie J Fabre , Frédéric Tm Them , Yves Alembik et al.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1

Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices

Maéva Langouët Langouët , Dennis Mircsof , Marlène Rio , Jeanne Amiel , Steven Brown et al.
médecine/sciences, 2016, 32 (6-7), pp.571-573. ⟨10.1051/medsci/20163206015⟩
Journal articles hal-02142248v1

PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.

Jeanne Amiel , Véronique Dubreuil , Nélina Ramanantsoa , Gilles Fortin , Jorge Gallego et al.
Respiratory Physiology & Neurobiology, 2009, 168 (1-2), pp.125-32. ⟨10.1016/j.resp.2009.03.005⟩
Journal articles istex hal-00444550v1

Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Johanne Dubail , Céline Huber , Sandrine Chantepie , Stephan Sonntag , Beyhan Tuysuz et al.
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Journal articles hal-01914333v1
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Anne Guimier , Christopher T. Gordon , François Godard , Gianina Ravenscroft , Myriam Oufadem et al.
American Journal of Human Genetics, 2016, 99 (3), pp.666--673. ⟨10.1016/j.ajhg.2016.06.021⟩
Journal articles hal-01831600v1
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha Zaki , Andrea Ciolfi et al.
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Journal articles hal-03790588v1

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

Xavier Lahaye , Matteo Gentili , Aymeric Silvin , Cécile Conrad , Léa Picard et al.
Cell, 2018, 175 (2), pp.488-501.e22. ⟨10.1016/j.cell.2018.08.062⟩
Journal articles hal-02087780v1

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Nicolas Garcelon , Antoine Neuraz , Rémi Salomon , Nadia Bahi-Buisson , Jeanne Amiel et al.
Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.85. ⟨10.1186/s13023-018-0830-6⟩
Journal articles hal-03962363v1
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Cherubism as a systemic skeletal disease: evidence from an aggressive case

Anne Morice , Aline Joly , Manon Ricquebourg , Gérard Maruani , Emmanuel Durand et al.
BMC Musculoskeletal Disorders, 2020, 21 (1), pp.564. ⟨10.1186/s12891-020-03580-z⟩
Journal articles hal-02946606v1
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Proceedings of the fourth international conference on central hypoventilation

Ha Trang , Jean-François Brunet , Hermann Rohrer , Jorge Gallego , Jeanne Amiel et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.194. ⟨10.1186/s13023-014-0194-5⟩
Journal articles hal-01334669v1
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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

Nadjet Gacem , Anthula Kavo , Lisa Zerad , Laurence Richard , Stephane Mathis et al.
Nature Communications, 2020, 11 (1), pp.198. ⟨10.1038/s41467-019-14090-5⟩
Journal articles inserm-02494188v1

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Dennis Mircsof , Maéva Langouët Langouët , Marlène Rio , Sébastien Moutton , Karine Siquier-Pernet et al.
Nature Neuroscience, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩
Journal articles hal-02088168v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen et al.
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Journal articles hal-01617529v1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Soumaya Mougou-Zerelli , Sophie Thomas , Emmanuelle Szenker , Sophie Audollent , Nadia Elkhartoufi et al.
Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles inserm-00420359v1