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 | 428 | 2012 |
C offin–S iris syndrome and the BAF complex: genotype–phenotype study in 63 patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528, 2013 | 247 | 2013 |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012 | 241 | 2012 |
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ... European journal of medical genetics 52 (2-3), 94-100, 2009 | 228 | 2009 |
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 225 | 2018 |
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ... Human mutation 39 (5), 621-634, 2018 | 161 | 2018 |
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 | 156 | 2015 |
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 A Gregor, B Albrecht, I Bader, EK Bijlsma, AB Ekici, H Engels, ... BMC medical genetics 12, 1-12, 2011 | 150 | 2011 |
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease A Indrieri, VA Van Rahden, V Tiranti, M Morleo, D Iaconis, R Tammaro, ... The American Journal of Human Genetics 91 (5), 942-949, 2012 | 149 | 2012 |
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 | 141 | 2015 |
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ... Genome research 23 (1), 23-33, 2013 | 138 | 2013 |
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 | 131 | 2019 |
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 130 | 2020 |
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature E Cottereau, I Mortemousque, MP MOIZARD, L Bürglen, D Lacombe, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013 | 112 | 2013 |
The nuclear factor κB–activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset I Maystadt, R Rezsöhazy, M Barkats, S Duque, P Vannuffel, S Remacle, ... The American Journal of Human Genetics 81 (1), 67-76, 2007 | 111 | 2007 |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients S Moortgat, S Berland, I Aukrust, I Maystadt, L Baker, V Benoit, ... European Journal of Human Genetics 26 (1), 64-74, 2018 | 107 | 2018 |
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ... Human genetics 135, 569-586, 2016 | 104 | 2016 |
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease P Lüningschrör, B Binotti, B Dombert, P Heimann, A Perez-Lara, C Slotta, ... Nature communications 8 (1), 678, 2017 | 79 | 2017 |
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome D Schepers, AJ Doyle, G Oswald, E Sparks, L Myers, PJ Willems, ... European Journal of Human Genetics 23 (2), 224-228, 2015 | 71 | 2015 |
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus I Maystadt, M Zarhrate, P Landrieu, O Boespflug‐Tanguy, S Sukno, ... Human mutation 23 (5), 525-526, 2004 | 64 | 2004 |