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Statistical inference of immunogenetic parameters reveals HLA-DRB1*11:01 allele associated with pediatric FSGS

Axelle Durand , Cheryl A. Winkler , Nicolas Vince , Venceslas Douillard , Estelle Geffard , et al.
JOBIM, Jul 2019, Nantes, France
Conference poster inserm-02161731v1
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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Borislav Dejanovic , Tania Djemie , N. Grünewald , Arvid Suls , Vanessa Kress , et al.
EMBO Molecular Medicine, 2015, 7, pp.1580-1594. ⟨10.15252/emmm.201505323⟩
Journal articles hal-01236147v2
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.

Dalila Pinto , Elsa Delaby , Daniele Merico , Mafalda Barbosa , Alison Merikangas , et al.
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
Journal articles inserm-00986225v1

Epithelial Bmpr1a regulates differentiation and proliferation in postnatal hair follicles and is essential for tooth development

Thomas Andl , Kyung Ahn , Alladin Kairo , Emily Y. Chu , Lara Wine-Lee , et al.
Development (Cambridge, England), 2004, 131 (10), pp.2257-2268. ⟨10.1242/dev.01125⟩
Journal articles hal-04127581v1
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Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia

Jingping Ge , Marisa Apicella , Jason A. Mills , Loïc Garçon , Deborah L. French , et al.
PLoS ONE, 2015, 10 (8), pp.e0134878. ⟨10.1371/journal.pone.0134878⟩
Journal articles hal-01233565v1
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French validation of the sleep disturbance scale for children (SDSC) in young children (aged 6 months to 4 years)

Florian Lecuelle , Marie-Paule Gustin , Wendy Leslie , Jodi A. Mindell , Patricia Franco , et al.
Sleep Medicine, 2020, 67, pp.56 - 65. ⟨10.1016/j.sleep.2019.09.014⟩
Journal articles hal-03489967v1

Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort

Axelle Durand , Cheryl Winkler , Nicolas Vince , Venceslas Douillard , Estelle Geffard , et al.
American Journal of Kidney Diseases, 2023, 24 (1), pp.191. ⟨10.1053/j.ajkd.2022.11.003⟩
Journal articles inserm-04061037v1
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Antibiotics and Cure Rates in Childhood Febrile Urinary Tract Infections in Clinical Trials: A Systematic Review and Meta-analysis

Konstantinos Vazouras , Romain Basmaci , Julia Bielicki , Laura Folgori , Theoklis Zaoutis , et al.
Drugs, 2018, 78 (15), pp.1593-1604. ⟨10.1007/s40265-018-0988-1⟩
Journal articles inserm-02129846v1

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Ina Schanze , Jens Bunt , Jonathan W.C. Lim , Denny Schanze , Ryan Dean , et al.
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
Journal articles hal-01999378v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova , et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

David Buchbinder , Fabian Hauck , Michael Albert , Anita Rack , Shahrzad Bakhtiar , et al.
Journal of Clinical Immunology, 2019, 39 (1), pp.81-89. ⟨10.1007/s10875-018-0581-0⟩
Journal articles pasteur-03469013v1
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Preclinical Potency and Biodistribution Studies of an AAV 5 Vector Expressing Human Interferon-β (ART-I02) for Local Treatment of Patients with Rheumatoid Arthritis

Caroline J. Aalbers , Lisette Bevaart , Scott Loiler , Karin de Cortie , J. Fraser Wright , et al.
PLoS ONE, 2015, 10 (6), pp.e0130612. ⟨10.1371/journal.pone.0130612⟩
Journal articles hal-01230828v1
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Individual common variants exert weak effects on the risk for autism spectrum disorders.

Richard Anney , Lambertus Klei , Dalila Pinto , Joana Almeida , Elena Bacchelli , et al.
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Journal articles inserm-00723650v1
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International Network of Chronic Kidney Disease cohort studies (iNET-CKD): a global network of chronic kidney disease cohorts

Thomas Dienemann , Naohiko Fujii , Paula Orlandi , Lisa Nessel , Susan L. Furth , et al.
BMC Nephrology, 2015, 17 (1), pp.121. ⟨10.1186/s12882-016-0335-2⟩
Journal articles inserm-01359631v1
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Siddharth Srivastava , Erica Macke , Lindsay Swanson , David Coulter , Eric Klee , et al.
Brain Sciences, 2021, 11 (7), pp.931. ⟨10.3390/brainsci11070931⟩
Journal articles hal-03664847v1
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A collaborative resource platform for non-human primate neuroimaging

Adam Messinger , Nikoloz Sirmpilatze , Katja Heuer , Kep Kee Loh , Rogier B Mars , et al.
NeuroImage, 2021, 226, pp.117519. ⟨10.1016/j.neuroimage.2020.117519⟩
Journal articles hal-03167240v1
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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean-Louis Guéant , Céline Chery , Abderrahim Oussalah , Javad Nadaf , David Coelho , et al.
Nature Communications, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩
Journal articles hal-01801484v1
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Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Abderrahim Oussalah , Youssef Siblini , Sébastien Hergalant , Céline Chéry , Pierre Rouyer , et al.
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩
Journal articles hal-03664165v1
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen , Worrawat Engchuan , Matthew Hestand , Tracy Heung , Aaron Holleman , et al.
Molecular Psychiatry, 2020, ⟨10.1038/s41380-020-0654-3⟩
Journal articles hal-03216078v1
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Levels of autistic traits in anorexia nervosa: a comparative psychometric study.

Annaig Courty , Anne Solène Maria , Christophe Lalanne , Damien Ringuenet , Christine Vindreau , et al.
BMC Psychiatry, 2013, 13 (1), pp.222. ⟨10.1186/1471-244X-13-222⟩
Journal articles inserm-00868766v1
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A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

L Alison Mcinnes , Alisa Nakamine , Marion Pilorge , Tracy Brandt , Patricia Jiménez González , et al.
Molecular Autism, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Journal articles inserm-00622567v1
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Eric Chater-Diehl , Resham Ejaz , Cheryl Cytrynbaum , Michelle Siu , Andrei Turinsky , et al.
BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0555-y⟩
Journal articles hal-02612494v1

Immune status of the murine 22q11.2 deletion syndrome model

Alexis Crockett , Hania Kebir , Nail Benallegue , Philippa Adelman , Raquel Gur , et al.
European Journal of Immunology, 2023, 53 (1), pp.2249840. ⟨10.1002/eji.202249840⟩
Journal articles inserm-04003516v1
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Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

Ulrike Esslinger , Sophie Garnier , Agathe Korniat , Carole Proust , Georgios Kararigas , et al.
PLoS ONE, 2020, 15 (2), pp.e0229472. ⟨10.1371/journal.pone.0229472⟩
Journal articles hal-02949402v1
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Hong S. Lee , Stephan Ripke , Benjamin M. Neale , Stephen V. Faraone , Shaun M. Purcell , et al.
Nature Genetics, 2013, 45 (9), pp.984-994. ⟨10.1038/ng.2711⟩
Journal articles inserm-00864642v1
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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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Delineation of early brain development from fetuses to infants with diffusion MRI and beyond

Minhui Ouyang , Jessica Dubois , Qinlin Yu , Pratik Mukherjee , Hao Huang
NeuroImage, 2019, 185, pp.836-850. ⟨10.1016/j.neuroimage.2018.04.017⟩
Journal articles hal-02436254v1
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Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

Sanjay Sonney , Jeremy Leipzig , Marie T Lott , Shiping Zhang , Vincent Procaccio , et al.
PLoS Computational Biology, 2017, 13 (12), pp.e1005867. ⟨10.1371/journal.pcbi.1005867⟩
Journal articles inserm-02149524v1
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Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease

Robin Deterding , Matthias Griese , Gail Deutsch , David Warburton , Emily M Deboer , et al.
ERJ Open Research, 2021, 7 (2), pp.00805-2020. ⟨10.1183/23120541.00805-2020⟩
Journal articles inserm-04038073v1

Sexually dimorphic roles for the type 2 diabetes-associated C2cd4b gene in murine glucose homeostasis

S. Neda Mousavy Gharavy , Bryn M. Owen , Steven J. Millership , Pauline Chabosseau , Grazia Pizza , et al.
Diabetologia, 2021, 64 (4), pp.850-864. ⟨10.1007/s00125-020-05350-x⟩
Journal articles hal-03677223v1