Faivre, Laurence

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooij, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., et al. (2017) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 429

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

Cited by 311

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

Delineation of 15q13.3 microdeletions.

Masurel‐Paulet, A., Andrieux, J., Callier, P., Cuisset, J., Le Caignec, C., Holder, M., Thauvin‐Robinet, C., Doray, B., Flori, E., Alex‐Cordier, M., et al. (2010) · Clinical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., et al. (2019) · The American Journal of Human Genetics

Cellular transport and secretionGenetics and Neurodevelopmental Disorders

Cited by 134

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 115

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Villegas, F., Lehalle, D., Mayer, D., Rittirsch, M., Stadler, M. B., Zinner, M., Olivieri, D., Vabres, P., Duplomb-Jego, L., De Bont, E. S. J. M., et al. (2019) · Cell Stem Cell

Pluripotent Stem Cells ResearchDevelopmental Biology and Gene Regulation

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 105

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Liang, L., Li, X., Moutton, S., Schrier Vergano, S. A., Cogné, B., Saint-Martin, A., Hurst, A. C. E., Hu, Y., Bodamer, O., Thevenon, J., et al. (2019) · Human Molecular Genetics

Ion channel regulation and functionGenomics and Rare Diseases

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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Vitobello, A., Mazel, B., Lelianova, V. G., Zangrandi, A., Petitto, E., Suckling, J., Salpietro, V., Meyer, R., Elbracht, M., Kurth, I., et al. (2022) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., Maystadt, I., Cosyns, J., Jouk, P., et al. (2010) · Clinical Genetics

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

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Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Faivre, L., Saugier-Veber, P., Pais de Barros, J.-P., Verges, B., Couret, B., Lorcerie, B., Thauvin, C., Charbonnier, F., Huet, F., Gambert, P., et al. (2005) · European Journal of Human Genetics

Lipid metabolism and disordersLysosomal Storage Disorders Research

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