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authFullName_s : Alice Goldenberg
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , et al.
Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩
Journal articles hal-02538173v1

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Jean Muller , Corinne Stoetzel , Marie-Claire Vincent , Carmen C Leitch , Virginie Laurier , et al.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Journal articles inserm-00462147v1
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

David Cheillan , Marie Joncquel-Chevalier Curt , Gilbert Briand , Gajja Salomons , Karine Mention-Mulliez , et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.96. ⟨10.1186/1750-1172-7-96⟩
Journal articles inserm-00780328v1
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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
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Laurence Desmyter , Michella Ghassibé , Nicole Revencu , Odile Boute , M. Lees , et al.
Mol Syndromol, 2010, 1 (2), pp.67-74. ⟨10.1159/000313786⟩
Journal articles inserm-00538240v1
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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Johannes Luppe , Heinrich Sticht , François Lecoquierre , Alice Goldenberg , Kathleen M Gorman , et al.
European Journal of Human Genetics, 2023, 31 (3), pp.345-352. ⟨10.1038/s41431-022-01269-6⟩
Journal articles hal-04127225v1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre , et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Journal articles hal-01560951v1

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

Daphne Lehalle , Umut Altunoglu , Ange‐line Bruel , Mirna Assoum , Yannis Duffourd , et al.
EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩
Journal articles hal-02904510v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader , et al.
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Journal articles hal-03485808v1
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RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

Léo Mietton , Nicolas Lebrun , Irina Giurgea , Alice Goldenberg , Benjamin Saintpierre , et al.
NeuroMolecular Medicine, 2018, 20 (3), pp.409-417. ⟨10.1007/s12017-018-8502-1⟩
Journal articles inserm-03798407v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac , et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Journal articles hal-01560452v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa , et al.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

Pascaline Gaildrat , Saïd Lebbah , Abdellah Tebani , Bénédicte Sudrié-Arnaud , Isabelle Tostivint , et al.
Molecular Genetics & Genomic Medicine, 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩
Journal articles hal-02336138v1
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Mathilde Nizon , Marcia Henry , Caroline Michot , Clarisse Baumann , Anne Bazin , et al.
Clinical Genetics, 2016, 89 (5), pp.584-589. ⟨10.1111/cge.12720⟩
Journal articles hal-01255844v1

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , et al.
Human Mutation, 2022, 43 (9), pp.1239-1248. ⟨10.1002/humu.24384⟩
Journal articles hal-03822689v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Anne-Laure Mosca-Boidron , Lucie Gueneau , Guillaume Huguet , Alice Goldenberg , Céline Henry , et al.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
Journal articles pasteur-01342825v1

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots , Taryn Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , et al.
American Journal of Human Genetics, 2023, ⟨10.1016/j.ajhg.2023.04.008⟩
Journal articles hal-04102199v1
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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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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Alice Goldenberg , Florent Marguet , Vianney Gilard , Aude-Marie Cardine , Adnan Hassani , et al.
Acta Neuropathologica Communications, 2019, 7 (1), pp.191. ⟨10.1186/s40478-019-0841-0⟩
Journal articles hal-02538271v1

Morphological features in juvenile Huntington disease associated with cerebellar atrophy -magnetic resonance imaging morphometric analysis

Abderrahmane Hedjoudje , Gaël Nicolas , Alice Goldenberg , Catherine Vanhulle , Clémentine Dumant-Forrest , et al.
Pediatric Radiology, 2018, 48 (10), pp.1463 - 1471. ⟨10.1007/s00247-018-4167-z⟩
Journal articles inserm-02457366v1
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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

Raphael Carapito , Alice Goldenberg , Nicodème Paul , Angélique Pichot , Albert David , et al.
European Journal of Human Genetics, 2016, 24 (12), pp.1746 - 1751. ⟨10.1038/ejhg.2016.84⟩
Journal articles inserm-01701252v1
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First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Nicole Monnier , Annie Laquerrière , Stéphane Marret , Alice Goldenberg , Isabelle Marty , et al.
Neuromuscul Disord, 2009, 19 (10), pp.680-4. ⟨10.1016/j.nmd.2009.07.007⟩
Journal articles inserm-00516069v1
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Type I hyperprolinemia: genotype/phenotype correlations

Audrey Guilmatre , Solenn Legallic , Gary Steel , Alecia Willis , Gabriella Di Rosa , et al.
Human Mutation, 2010, 31 (8), pp.961-965. ⟨10.1002/humu.21296⟩
Journal articles hal-00599468v1

A novel recurrent LIS1 splice site mutation in classic lissencephaly

Marion Philbert , Camille Maillard , Mara Cavallin , Alice Goldenberg , Cecile Masson , et al.
American Journal of Medical Genetics Part A, 2017, 173 (2), pp.561-564. ⟨10.1002/ajmg.a.38041⟩
Journal articles hal-03676402v1
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iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS

Vincent Gatinois , Romain Desprat , Lydiane Pichard , Fabienne Becker , Alice Goldenberg , et al.
Stem Cell Research, 2020, 45, pp.101807. ⟨10.1016/j.scr.2020.101807⟩
Journal articles hal-03576948v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre , et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal articles hal-03619568v1

10q26 deletion syndrome: a French cohort study

Hugo Thorn , Sylvie Odent , Jonathan Levy , Anne-Claude Tabet , Julien Thevenon , et al.
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324
Conference papers hal-03693284v1

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Estelle Lopez , Patrick Callier , Valérie Cormier-Daire , Didier Lacombe , Anne Moncla , et al.
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
Journal articles inserm-00662892v1
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Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia

Loic de Pontual , Marie Cognet , Agnès Nougayrede , Valérie Malan , Patrick Callier , et al.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.225⟩
Journal articles hal-00608020v1
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Natural history of Barth syndrome: a national cohort study of 22 patients.

Charlotte Rigaud , Anne-Sophie Lebre , Renaud Touraine , Blandine Beaupain , Chris Ottolenghi , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.70. ⟨10.1186/1750-1172-8-70⟩
Journal articles inserm-00823569v1