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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Pascaline Létard , Séverine Drunat , Yoann Vial , Sarah Duerinckx , Anais Ernault et al.
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Journal articles hal-02393637v1

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn , Valérie Biancalana , Mathieu Cerino , Aurélien Perrin , Laurence Michel-Calemard et al.
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
Journal articles hal-02434896v1

Serum GH concentration must now be expressed in mass units in France like in the rest of the world

Philippe Chanson , Rachel Reynaud , Régis Coutant , Agnès Linglart , Marc Nicolino et al.
Annales de Biologie Clinique, 2018, 76 (2), pp.133-134. ⟨10.1684/abc.2018.1322⟩
Journal articles hal-02616910v1

Corticotroph tumor progression after bilateral adrenalectomy (Nelson’s syndrome): systematic review and expert consensus recommendations

Martin Reincke , Adriana Albani , Guillaume Assie , Irina Bancos , Thierry Brue et al.
European Journal of Endocrinology, 2021, 184 (3), pp.P1-P16. ⟨10.1530/EJE-20-1088⟩
Journal articles hal-03662879v1

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem et al.
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1
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Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1 ‐deficient skin carcinoma

Thibault Kervarrec , Eric Frouin , Christine Collin , Anne Tallet , Matthias Tallegas et al.
Histopathology, 2023, 82 (6), pp.885-898. ⟨10.1111/his.14874⟩
Journal articles hal-04077169v1
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NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms

Nicolas Macagno , Thibault Kervarrec , Pierre Sohier , Brigitte Poirot , Aurélie Haffner et al.
American Journal of Surgical Pathology, 2021, 45 (9), pp.1221-1227. ⟨10.1097/PAS.0000000000001693⟩
Journal articles hal-03210178v1

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

Pauline Romanet , Marie-Francoise Odou , Marie-Odile North , Alexandru Saveanu , Lucie Coppin et al.
Human Mutation, 2019, 40 (6), pp.661-674. ⟨10.1002/humu.23746⟩
Journal articles hal-02461447v1
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Severe maternal morbidity in preterm cesarean delivery: A systematic review and meta-analysis

Julie Blanc , Noémie Rességuier , Anderson Loundou , Laurent Boyer , Pascal Auquier et al.
European Journal of Obstetrics & Gynecology and Reproductive Biology, 2021, 261, pp.116--123. ⟨10.1016/j.ejogrb.2021.04.022⟩
Journal articles hal-03828877v1

Association of Intravenous Immunoglobulins plus Methylprednisolone vs Immunoglobulins Alone with Course of Fever in Multisystem Inflammatory Syndrome in Children

Naïm Ouldali , Julie Toubiana , Denise Antona , Étienne Javouhey , Fouad Madhi et al.
Journal of the American Medical Association, 2021, 325 (9), pp.855-864. ⟨10.1001/jama.2021.0694⟩
Journal articles hal-03171224v1
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Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study

Anna C. Jansen , Elena Belousova , Mirjana P. Benedik , Tom Carter , Vincent Cottin et al.
Frontiers in Neurology, 2019, 10, pp.821. ⟨10.3389/fneur.2019.00821⟩
Journal articles hal-03603520v1
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje van der Sluijs , Marieke Joosten , Caroline Alby , Tania Attié-Bitach , Kelly Gilmore et al.
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Journal articles hal-04102377v1

Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity

S. Tordjman , D. Cohen , G. M. Anderson , M. Botbol , R. Canitano et al.
Neuroscience and Biobehavioral Reviews, 2018, 89, pp.132-150. ⟨10.1016/j.neubiorev.2018.01.014⟩
Journal articles hal-01812461v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Brechet , Rebecca Buchert , Jochen Schwenk , Sami Boudkkazi , Gerd Zolles et al.
Nature Communications, 2017, 8, pp.15910. ⟨10.1038/ncomms15910⟩
Journal articles hal-02044718v1

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
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Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study

Naim Ouldali , Haleh Bagheri , Francesco Salvo , Denise Antona , Antoine Pariente et al.
The Lancet Regional Health - Europe, 2022, 17, ⟨10.1016/j.lanepe.2022.100393⟩
Journal articles hal-03696532v1
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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel- Lindau disease spectrum or with paraganglioma

Alexandre Buffet , Bruna Calsina , Shahida Flores , Sophie Giraud , Marion Lenglet et al.
Journal of Medical Genetics, 2020, pp.1 - 8. ⟨10.1136/jmedgenet-2019-106519⟩
Journal articles hal-02484923v1
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Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling

Elise Marechal , Anne Poliard , Kilian Henry , Mathias Moreno , Mathilde Legrix et al.
Preprints, Working Papers, ... hal-03809038v1

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

Laetitia Marisa , Magali Svrcek , Ada Collura , Etienne Becht , Pascale Cervera et al.
JNCI: Journal of the National Cancer Institute, 2018, 110 (1), pp.68-77. ⟨10.1093/jnci/djx136⟩
Journal articles hal-01727817v1
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DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

M Ferreboeuf , V. Mariot , B. Bessières , A Vasiljevic , Tania Attié-Bitach et al.
18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩
Conference papers hal-01907613v1

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma

Jacques W.M. Lenders , Michiel Kerstens , Laurence Amar , Aleksander Prejbisz , Mercedes Robledo et al.
Journal of Hypertension, 2020, Publish Ahead of Print, ⟨10.1097/HJH.0000000000002438⟩
Journal articles hal-02863915v1

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Océane Landon-Cardinal , Diane Friedman , Marguerite Guiguet , Pascal Laforet , Nicholas Heming et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.241-249. ⟨10.3233/JND-180300⟩
Journal articles hal-02377514v1
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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Frederic Vely , Vincent Barlogis , Evelyne Marinier , Marie-Edith Coste , Beatrice Dubern et al.
Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩
Journal articles hal-02000323v1

Lack of Prognostic Value of CTNNB1 Mutation Profile in Desmoid-Type Fibromatosis

Nicolas Penel , Sylvie Bonvalot , André-Michel Bimbai , Alexandra Meurgey , François Le Loarer et al.
Clinical Cancer Research, 2022, 28 (18), pp.4105-4111. ⟨10.1158/1078-0432.CCR-21-4235⟩
Journal articles hal-03925659v1

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome

Antoine Tabarin , Guillaume Assie , Pascal Barat , Fideline Bonnet , Jean Francois Bonneville et al.
Annales d'Endocrinologie, 2022, ⟨10.1016/j.ando.2022.02.001⟩
Journal articles hal-03604251v1
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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
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Mario Abaji , Svetlana Gorokhova , Nathalie da Silva , Tiffany Busa , Maude Grelet et al.
GENES, 2022, 13 (7), ⟨10.3390/genes13071277⟩
Journal articles hal-03780226v1
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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
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State‐of‐the‐art therapies for Rett syndrome

Nicolas Panayotis , Yann Ehinger , Marie Solenne Felix , Jean‐christophe Roux
Developmental Medicine and Child Neurology, 2023, ⟨10.1111/dmcn.15383⟩
Journal articles hal-03809156v1