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A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

Graciana Diez-Roux , Sandro Banfi , Marc Sultan , Lars Geffers , Santosh Anand , et al.
PLoS Biology, 2011, 9 (1), pp.e1000582. ⟨10.1371/journal.pbio.1000582⟩
Journal articles inserm-00707211v1
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Lack of replication of the GRIN2A-by-coffee interaction in Parkinson disease.

Ismaïl Ahmed , Pei-Chen Lee , Christina M Lill , Susan Searles Nielsen , Fanny Artaud , et al.
PLoS Genetics, 2014, 10 (11), pp.e1004788. ⟨10.1371/journal.pgen.1004788⟩
Journal articles inserm-01160040v1
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Christel Depienne , Marianna Bugiani , Céline Dupuits , Damien Galanaud , Valérie Touitou , et al.
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Journal articles inserm-00842764v1
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The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution.

Bettina Ebner , Georgia Panopoulou , Serge Vinogradov , Laurent Kiger , Michael Marden , et al.
BMC Evolutionary Biology, 2010, 10 (1), pp.370. ⟨10.1186/1471-2148-10-370⟩
Journal articles inserm-00622807v1
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A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

Petar N Grozdanov , Elahe Masoumzadeh , Vera M Kalscheuer , Thierry Bienvenu , Pierre Billuart , et al.
Nucleic Acids Research, 2020, 48 (17), pp.9804-9821. ⟨10.1093/nar/gkaa689⟩
Journal articles hal-02969371v1

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu , Klaus Wrogemann , Vera Kalscheuer , Andreas Tzschach , Hugues Richard , et al.
The HUGO Journal, 2009, 3 (1-4), pp.41-49. ⟨10.1007/s11568-010-9137-y⟩
Journal articles hal-04121616v1

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel van Maldergem , Qingming Hou , Vera Kalscheuer , Marlène Rio , Martine Doco-Fenzy , et al.
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Journal articles hal-02124657v1
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin , Rhonda E Schnur , Sofia Douzgou , Susan M Hiatt , Cecilie F Rustad , et al.
American Journal of Human Genetics, 2021, 108, pp.857 - 873. ⟨10.1016/j.ajhg.2021.04.001⟩
Journal articles inserm-03948529v1
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Synthetic STARR-seq reveals how DNA shape and sequence modulate transcriptional output and noise

Stefanie Schöne , Melissa Bothe , Edda Einfeldt , Marina Borschiwer , Philipp Benner , et al.
PLoS Genetics, 2018, 14 (11), pp.e1007793. ⟨10.1371/journal.pgen.1007793⟩
Journal articles inserm-02155974v1
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ChIP-exo signal associated with DNA-binding motifs provides insight into the genomic binding of the glucocorticoid receptor and cooperating transcription factors

Stephan R Starick , Jonas Ibn-Salem , Marcel Jurk , Céline Hernandez , Michael I Love , et al.
Genome Research, 2015, 25 (6), pp.825 - 835. ⟨10.1101/gr.185157.114⟩
Journal articles hal-03352059v1

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna Frints , Aysegul Ozanturk , Germán Rodriguez Criado , Ute Grasshoff , Bas de Hoon , et al.
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Journal articles hal-03677837v1
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Going digital: how technology use may influence human brains and behavior

Florence Thibaut , Margret Hoehe
Dialogues in Clinical Neuroscience, 2020, 22 (2), pp.93-97. ⟨10.31887/DCNS.2020.22.2/mhoehe⟩
Journal articles inserm-02969417v1

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Hans-Hilger Ropers , Maria Hoeltzenbein , Vera Kalscheuer , Helger Yntema , Ben Hamel , et al.
Trends in Genetics, 2003, 19 (6), pp.316-320. ⟨10.1016/S0168-9525(03)00113-6⟩
Journal articles istex hal-04152593v1

MECP2 is highly mutated in X-linked mental retardation

Philippe Couvert , Thierry Bienvenu , Cecile Aquaviva , Karine Poirier , Claude Moraine , et al.
Human Molecular Genetics, 2001, 10 (9), pp.941-946. ⟨10.1093/hmg/10.9.941⟩
Journal articles hal-04142877v1

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

D Lugtenberg , A De Brouwer , T Kleefstra , A Oudakker , S Frints , et al.
Journal of Medical Genetics, 2005, 43 (4), pp.362-370. ⟨10.1136/jmg.2005.036178⟩
Journal articles hal-04093731v1
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Identification and characterization of DNA sequences that prevent glucocorticoid receptor binding to nearby response elements

Jonas Telorac , Sergey V Prykhozhij , Stefanie Schöne , David Meierhofer , Sascha Sauer , et al.
Nucleic Acids Research, 2016, 44 (13), pp.6142 - 6156. ⟨10.1093/nar/gkw203⟩
Journal articles hal-03352070v1
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

Cecile Pagan , Hany Goubran Botros , Karine Poirier , Anne Dumaine , Stéphane Jamain , et al.
BMC Medical Genetics, 2011, 12 (1), pp.17. ⟨10.1186/1471-2350-12-17⟩
Journal articles inserm-00610655v1

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Sarah A. Shoichet , Kirsten Hoffmann , Corinna Menzel , Udo Trautmann , Bettina Moser , et al.
American Journal of Human Genetics, 2003, 73 (6), pp.1341-1354. ⟨10.1086/380309⟩
Journal articles hal-04153033v1

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier , Nathalie Ronce , Ben C.J. Hamel , Paul Thomas , James Lespinasse , et al.
American Journal of Human Genetics, 2002, 71 (6), pp.1450-1455. ⟨10.1086/344661⟩
Journal articles hal-04152275v1
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Preventing dangerous nonsense: selection for robustness to transcriptional error in human genes.

Brian P. Cusack , Peter F. Arndt , L. Duret , Hugues Roest Crollius
PLoS Genetics, 2011, 7 (10), pp.e1002276. ⟨10.1371/journal.pgen.1002276⟩
Journal articles inserm-00711772v1
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A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model

Mickael Orgeur , Marvin Martens , Stefan Börno , Bernd Timmermann , Delphine Duprez , et al.
Biology Open, 2017, 7 (1), pp.bio028498. ⟨10.1242/bio.028498⟩
Journal articles hal-02393868v1
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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Lars Jensen , Heinz Bartenschlager , Sinitdhorn Rujirabanjerd , Andreas Tzschach , Astrid Nümann , et al.
PathoGenetics, 2010, 3 (1), pp.2. ⟨10.1186/1755-8417-3-2⟩
Journal articles inserm-00585757v1
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Toll-like receptor dependent autoantigens in animal models and humans in use to improve collagen induced arthritis

B Marklein , Z Konthur , T Häupl , M Shlomchik , G Steiner , et al.
Journal of Translational Medicine, 2010, 8 (Suppl 1), pp.P53
Journal articles inserm-00622783v1
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Genome-wide strategies identify downstream target genes of chick connective tissue-associated transcription factors

Mickael Orgeur , Marvin Martens , Georgeta Leonte , Sonya Nassari , Marie-Ange Bonnin , et al.
Development (Cambridge, England), 2018, 145 (7), pp.dev161208. ⟨10.1242/dev.161208⟩
Journal articles hal-02393907v1

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

T. Kleefstra , H. G. Yntema , A. R. Oudakker , M. J. G. Banning , V. M. Kalscheuer , et al.
Journal of Medical Genetics, 2004, 41 (5), pp.394-399. ⟨10.1136/jmg.2003.016972⟩
Journal articles hal-04142521v1
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A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model

Mickael Orgeur , Marvin Martens , Stefan T Börno , Bernd Timmermann , Delphine Duprez , et al.
Biology Open, 2018, 7 (1), pp.bio028498. ⟨10.1242/bio.028498⟩
Journal articles hal-01715183v1

H3K64 trimethylation marks heterochromatin and is dynamically remodeled during developmental reprogramming.

Sylvain Daujat , Thomas Weiss , Fabio Mohn , Ulrike C Lange , Céline Ziegler-Birling , et al.
Nature Structural and Molecular Biology, 2009, 16 (7), pp.777-81. ⟨10.1038/nsmb.1629⟩
Journal articles istex inserm-00420391v1
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RSAT peak-motifs: motif analysis in full-size ChIP-seq datasets

Morgane Thomas-Chollier , Carl Herrmann , Matthieu Defrance , Olivier Sand , Denis Thieffry , et al.
Nucleic Acids Research, 2012, 40 (4), pp.e31-e31. ⟨10.1093/nar/gkr1104⟩
Journal articles hal-01624284v1

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

Juliette Piard , Jia-Hua Hu , Philippe Campeau , Sylwia Rzonca , Hilde van Esch , et al.
Human Molecular Genetics, 2018, 27 (4), pp.589-600. ⟨10.1093/hmg/ddx426⟩
Journal articles hal-03670940v1
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Role of the chromatin landscape and sequence in determining cell type-specific genomic glucocorticoid receptor binding and gene regulation

Michael I Love , Matthew R Huska , Marcel Jurk , Robert Schöpflin , Stephan R Starick , et al.
Nucleic Acids Research, 2017, 45 (4), pp.1805 - 1819. ⟨10.1093/nar/gkw1163⟩
Journal articles hal-03352072v1