Segueix
Damien Lederer
Damien Lederer
Clinical Genetics, Centre for Human Genetics, Gosselies, Belgium
Correu electrònic verificat a ipg.be
Títol
Citada per
Citada per
Any
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
1142019
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
1142019
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
1142019
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
892021
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
552016
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
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
Articles 1–20