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Damien Lederer
Damien Lederer
Clinical Genetics, Centre for Human Genetics, Gosselies, Belgium
Verified email at ipg.be
Title
Cited by
Cited by
Year
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, U Hedrich, S Masnada, G Rubboli, E Gardella, ...
Brain 140 (5), 1316-1336, 2017
5132017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5132017
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
D Lederer, B Grisart, MC Digilio, V Benoit, M Crespin, SC Ghariani, ...
The American Journal of Human Genetics 90 (1), 119-124, 2012
4012012
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3112016
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
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)
S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, ...
Clinical genetics 87 (3), 252-258, 2015
1432015
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype–phenotype correlations in Warburg MICRO syndrome and Martsolf syndrome
MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ...
Human mutation 34 (5), 686-696, 2013
1292013
Find Research Outputs
S Class, A Americans, S Hyperparathyroidism, N Red
118*
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1132019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1132019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1132019
De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability
MJ Parker, AE Fryer, DJ Shears, KL Lachlan, SA McKee, AC Magee, ...
American Journal of Medical Genetics Part A 167 (10), 2231-2237, 2015
1092015
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
K Van Den Bogaert, L Lannoo, N Brison, V Gatinois, M Baetens, ...
Genetics in Medicine 23 (6), 1137-1142, 2021
872021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...
Brain 145 (9), 2991-3009, 2022
842022
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine 21 (4), 837-849, 2019
572019
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine 21 (4), 837-849, 2019
572019
FOXP1-related intellectual disability syndrome: a recognisable entity
I Meerschaut, D Rochefort, N Revençu, J Pètre, C Corsello, GA Rouleau, ...
Journal of medical genetics 54 (9), 613-623, 2017
562017
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
M Smogavec, A Cleall, J Hoyer, D Lederer, MC Nassogne, EE Palmer, ...
Journal of medical genetics 53 (12), 820-827, 2016
532016
A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
D Lederer, D Shears, V Benoit, C Verellen‐Dumoulin, I Maystadt
American Journal of Medical Genetics Part A 164 (5), 1289-1292, 2014
532014
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
S Moortgat, J Désir, V Benoit, S Boulanger, H Pendeville, MC Nassogne, ...
American Journal of Medical Genetics Part A 170 (11), 2927-2933, 2016
512016
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