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Structure: Internal structure identifier : 1004662

Epilepsy of infancy with migrating focal seizures (EIMFS) due to KCNT1 mutations shows an identifiable temporal sequence and a poor outcome with pharmacoresistant epilepsy and high mortality with SUDEP

M. Kuchenbuch , Giulia Barcia , Nicole Chemaly , A. Kamińska-Pranke , Pascal Benquet et al.
European Journal of Neurology, 2020, 27, pp.288-288
Journal articles hal-02879958v1
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Mortality in HCV-cured versus HCV-uninfected people with HIV: a matched analysis in the ANRS CO4 FHDH cohort

Maria-Bernarda Requena , Sophie Grabar , Emilie Lanoy , Gilles Pialoux , Eric Billaud et al.
AIDS. Official journal of the international AIDS Society, In press, ⟨10.1097/QAD.0000000000003569⟩
Journal articles hal-04074291v1
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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
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New insights into CC2D2A -related Joubert syndrome

Madeleine Harion , Leila Qebibo , Audrey Riquet , Christelle Rougeot , Alexandra Afenjar et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
Journal articles hal-03837222v1
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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

Investigation of primary immune deficiency after severe bacterial infection in children: A population-based study in western France

C. Flatres , J. M. Roue , C. Picard , L. Carausu , C. Thomas et al.
Archives de Pédiatrie, 2021, 28 (5), pp.398-404. ⟨10.1016/j.arcped.2021.03.009⟩
Journal articles hal-03285136v1

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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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Deepak Khatri , Audrey Putoux , Audric Cologne , Sophie Kaltenbach , Alicia Besson et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
Journal articles hal-04021151v1
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Impact of Childhood Onset Psoriasis on Addictive Behaviours, Socioeconomic and Educational Data in Adulthood

Emmanuel Mahe , Florence Tubach , Denis Jullien , Diep Tran , Carle Paul et al.
Acta Dermato-Venereologica, 2022, 102, pp.adv00733. ⟨10.2340/actadv.v102.2484⟩
Journal articles hal-03714477v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

C Binquet , Catherine Lejeune , Laurence Faivre , Marion Bouctot , Marie-Laure Asensio et al.
Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩
Journal articles hal-03610031v1
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Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

Valérie Seror , Olivier L’haridon , Laurence Bussières , Valérie Malan , Nicolas Fries et al.
JAMA Network Open, 2019, 2 (3), pp.e191062. ⟨10.1001/jamanetworkopen.2019.1062⟩
Journal articles hal-02262523v1
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard , Lindsey B. Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann et al.
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Journal articles pasteur-02958871v1

Myosin-1b interacts with UNC45A and controls intestinal epithelial morphogenesis

Céline Revenu , Marianna Parlato , Marion Rosello , Karine Duroure , Rémi Duclaux-Loras et al.
Preprints, Working Papers, ... hal-03426634v1

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng et al.
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
Journal articles hal-03790515v1
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UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

Iman Dalloul , Brice Laffleur , Zeinab Dalloul , Batoul Wehbi , Florence Jouan et al.
Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.737427⟩
Journal articles hal-03475084v1

In silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures

Mathieu Kuchenbuch , Rima Nabbout , Maxime Yochum , Paul Sauleau , Julien Modolo et al.
Epilepsia, 2021, 62 (3), pp.683-697. ⟨10.1111/epi.16834⟩
Journal articles hal-03156565v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Catherine Lejeune , Charley Robert-Viard , Nicolas Meunier-Beillard , Myriam Alice Borel , Léna Gourvès et al.
Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Journal articles hal-03678712v1
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Prognostic value and oncogenic landscape of TP53 alterations in adult and pediatric T-ALL

Mathieu Simonin , Guillaume Andrieu , Rudy Birsen , Marie Balsat , Guillaume Hypolite et al.
Journal articles hal-03980602v1
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Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting

Pascal Chappert , François Huetz , Marie-Alix Espinasse , Fabrice Chatonnet , Louise Pannetier et al.
Immunity, 2022, 55 (10), pp.1872-1890. ⟨10.1016/j.immuni.2022.08.019⟩
Journal articles hal-03800976v1

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series

Marion Lesieur-Sebellin , Marianne Till , Philippe Khau van Kien , Bérénice Herve , Nicolas Bourgon et al.
Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩
Journal articles hal-03481652v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard et al.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1
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Clinical diversity and treatment results in Tegumentary Leishmaniasis: A European clinical report in 459 patients

Romain Guery , Stephen Walker , Gundel Harms , Andreas Neumayr , Pieter van Thiel et al.
PLoS Neglected Tropical Diseases, 2021, 15 (10), ⟨10.1371/journal.pntd.0009863⟩
Journal articles hal-03439210v1
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Impact of the first wave of the COVID-19 pandemic on the treatment of psoriasis with systemic therapies in France: Results from the PSOBIOTEQ cohort

H Arlegui , E Mahé , M.A. Richard , Y de Rycke , M Viguier et al.
Annales de Dermatologie et de Vénéréologie, 2023, ⟨10.1016/j.annder.2023.01.005⟩
Journal articles hal-04062046v1
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Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses

François Danion , Vishukumar Aimanianda , Jagadeesh Bayry , Amélie Duréault , Sarah Sze Wah Wong et al.
Frontiers in Immunology, 2020, 11, pp.38. ⟨10.3389/fimmu.2020.00038⟩
Journal articles pasteur-02501359v1

First-Line Biologic Therapy and Obesity in Moderate-to-Severe Psoriasis: Results from the Prospective Multicenter Cohort Psobioteq

Florence Assan , Florence Tubach , Hugo Arlegui , Manuelle Viguier , Marie Beylot-Barry et al.
Dermatology, 2021, 237 (3), pp.338-346. ⟨10.1159/000513398⟩
Journal articles hal-03156232v1

Radiotherapy or Autologous Stem-Cell Transplantation for Primary CNS Lymphoma in Patients Age 60 Years and Younger: Long-Term Results of the Randomized Phase II PRECIS Study

Caroline Houillier , S Dureau , Luc Taillandier , Roch Houot , O. Chinot et al.
Journal of Clinical Oncology, 2022, pp.JCO2200491. ⟨10.1200/JCO.22.00491⟩
Journal articles hal-03758013v1
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Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

Luisa Marsili , Eline Overwater , Nadine Hanna , Geneviève Baujat , Marieke J H Baars et al.
Clinical Genetics, 2020, 97 (5), pp.723-730. ⟨10.1111/cge.13700⟩
Journal articles hal-02440935v1

A Molecular Classifier Increased the Accuracy of Lymphoma Diagnosis By Expert Pathologists in the Diffuse Large B-Cell Lymphoma Gained Trial from the Lysa

Amine Moslemi , Victor Bobée , Paul Blanc-Durand , Fanny Drieux , Fabienne Desmots-Loyer et al.
Blood, 2021, 138 (Supplement 1), pp.3495. ⟨10.1182/blood-2021-152144⟩
Journal articles hal-03770121v1
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Striking differences in weight gain after cART initiation depending on early or advanced presentation: Results from the ANRS CO4 FHDH cohort

Sophie Grabar , Valérie Potard , Lionel Piroth , Sophie Abgrall , Louis Bernard et al.
Journal of Antimicrobial Chemotherapy, 2023, 78 (3), pp.757-768. ⟨10.1093/jac/dkad007⟩
Journal articles hal-03968711v1
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Large-scale screening of lipase acid deficiency in at risk population

Abdellah Tebani , Bénédicte Sudrié-Arnaud , Hela Boudabous , Anais Brassier , Rodolphe Anty et al.
Clinica Chimica Acta, 2021, 519, pp.64-69. ⟨10.1016/j.cca.2021.04.005⟩
Journal articles hal-03223991v1