Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

…, F Bonnet-Brilhault, F Laumonnier… - Archives of general …, 2009 - jamanetwork.com
Context Results of comparative genomic hybridization studies have suggested that rare
copy number variations (CNVs) at numerous loci are involved in the cause of mental …

[PDF][PDF] X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

F Laumonnier, F Bonnet-Brilhault, M Gomot… - The American Journal of …, 2004 - cell.com
A large French family including members affected by nonspecific X-linked mental
retardation, with or without autism or pervasive developmental disorder in affected male …

[PDF][PDF] The role of neuronal complexes in human X-linked brain diseases

F Laumonnier, PC Cuthbert, SGN Grant - The American Journal of Human …, 2007 - cell.com
Beyond finding individual genes that are involved in medical disorders, an important
challenge is the integration of sets of disease genes with the complexities of basic biological …

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

F Laumonnier, S Holbert, N Ronce… - Journal of medical …, 2005 - jmg.bmj.com
Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in
two unrelated families with X linked mental retardation (XLMR) associated with cleft …

[HTML][HTML] X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

…, S Weinert, G Froyen, SGM Frints, F Laumonnier… - Molecular …, 2016 - nature.com
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

[PDF][PDF] Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

F Laumonnier, N Ronce, BCJ Hamel, P Thomas… - The American Journal of …, 2002 - cell.com
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46, X,
inv [X][p21q27]) in a female patient with mild mental retardation revealed localization of the …

[HTML][HTML] Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders

…, P Vourc'h, M Jeanne, F Laumonnier - Frontiers in …, 2023 - frontiersin.org
The dihydropyrimidinase-like (DPYSL) proteins, also designated as the collapsin response
mediators (CRMP) proteins, constitute a family of five cytosolic phosphoproteins abundantly …

[PDF][PDF] Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

…, H van Bokhoven, HH Ropers, F Laumonnier… - The American Journal of …, 2008 - cell.com
Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of
human disease. Here, we report a novel microduplication hot spot at Xp11. 22 identified in …

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

L Baala, S Briault, HC Etchevers, F Laumonnier… - Nature …, 2007 - nature.com
Neural progenitor proliferation and migration influence brain size during neurogenesis. We
report an autosomal recessive microcephaly syndrome cosegregating with a homozygous …

[PDF][PDF] Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders

…, L Faivre, C Thauvin-Robinet, F Laumonnier… - The American Journal of …, 2020 - cell.com
Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …