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Damien Sanlaville
Damien Sanlaville
Professeur en génétique
Adresse e-mail validée de chu-lyon.fr
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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental …
C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, ...
Journal of medical genetics 41 (4), 241-248, 2004
6442004
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS genetics 10 (9), e1004580, 2014
6182014
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
5912010
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
5292011
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
G Lesca, G Rudolf, N Bruneau, N Lozovaya, A Labalme, N Boutry-Kryza, ...
Nature genetics 45 (9), 1061-1066, 2013
4802013
Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity
CL Ku, H Von Bernuth, C Picard, SY Zhang, HH Chang, K Yang, ...
The Journal of experimental medicine 204 (10), 2407-2422, 2007
4792007
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
ML Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, ...
Journal of medical genetics 43 (11), 843-849, 2006
4012006
CHARGE syndrome: an update
D Sanlaville, A Verloes
European Journal of Human Genetics 15 (4), 389-399, 2007
3542007
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ...
Journal of medical genetics 49 (10), 660-668, 2012
3082012
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
D Sanlaville, HC Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, ...
Journal of medical genetics 43 (3), 211-317, 2006
2592006
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ...
The American Journal of Human Genetics 80 (4), 616-632, 2007
2442007
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ...
The American Journal of Human Genetics 82 (2), 432-443, 2008
2432008
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ...
Science 332 (6026), 240-243, 2011
2412011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ...
Journal of medical genetics 48 (12), 825-830, 2011
2082011
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ...
The American Journal of Human Genetics 106 (3), 356-370, 2020
2052020
Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism
G Lesca, G Rudolf, A Labalme, E Hirsch, A Arzimanoglou, P Genton, ...
Epilepsia 53 (9), 1526-1538, 2012
2012012
Guidelines for molecular karyotyping in constitutional genetic diagnosis
JR Vermeesch, H Fiegler, N De Leeuw, K Szuhai, J Schoumans, ...
European Journal of Human Genetics 15 (11), 1105-1114, 2007
1942007
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
1752019
Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency
H Chen, I Aksoy, F Gonnot, P Osteil, M Aubry, C Hamela, C Rognard, ...
Nature communications 6 (1), 7095, 2015
1732015
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ...
Journal of medical genetics 53 (8), 511-522, 2016
1682016
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