G. Le Guyader

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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

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

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

A. Benachi, A. Luscan, G. Le Guyader, 2020, Journal of clinical medicine.

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

R. Abou Jamra, H. Sticht, H. Taschenberger, 2022, Annals of neurology.

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

H. Sticht, H. Taschenberger, N. Brose, 2021, medRxiv.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

A. Bayat, G. Le Guyader, Sara A. Lewis, 2023, bioRxiv.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Human and animal models of V(D)J recombination deficiency.

I. Villey, G. Le Guyader, J. de Villartay, 2003, Current opinion in immunology.

Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination

P. Charneau, G. Le Guyader, J. de Villartay, 2007, The Journal of experimental medicine.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions

B. Gilbert-Dussardier, G. Le Guyader, M. Egloff, 2022, Cytogenetic and Genome Research.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Intracerebral hemorrhage in CADASIL.

P. Palazzo, J. Neau, G. Le Guyader, 2021, Revue neurologique.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American Journal of Human Genetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

F. Rivier, C. Béroud, F. Chapon, 2022, Orphanet Journal of Rare Diseases.

Reduced immunoglobulin class switch recombination in the absence of Artemis.

A. Fischer, G. Le Guyader, F. Pâques, 2009, Blood.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Fluorescence in situ hybridization analysis of masked (8;21)(q22;q22) translocations.

E. Macintyre, F. Ross, C. Harrison, 1999, Cancer genetics and cytogenetics.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

A. Pizzuti, B. Gilbert-Dussardier, C. Bénéteau, 2020, American journal of medical genetics. Part A.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

F. Brancati, L. Bernardini, F. Vialard, 2023, European Journal of Human Genetics.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

A. Toutain, J. Deleuze, L. Pasquier, 2023, Journal of Medical Genetics.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

A. Pinto, C. Thauvin-Robinet, C. Fallerini, 2024, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening.

O. Martinaud, K. Bennys, V. de la Sayette, 2024, Genetics in medicine : official journal of the American College of Medical Genetics.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

F. Lecoquierre, B. Cogné, W. Deb, 2024, European journal of medical genetics.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

W. M. van der Flier, D. Grozeva, O. Martinaud, 2022, Genome Medicine.