| # | Title | Journal | Year | Citations |
|---|
| 1 | Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases | European Journal of Medical Genetics | 2015 | 329 |
| 2 | Infantile hydrocephalus: A review of epidemiology, classification and causes | European Journal of Medical Genetics | 2014 | 273 |
| 3 | Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries | European Journal of Medical Genetics | 2005 | 239 |
| 4 | Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals | European Journal of Medical Genetics | 2009 | 226 |
| 5 | The genetic architecture of microphthalmia, anophthalmia and coloboma | European Journal of Medical Genetics | 2014 | 213 |
| 6 | Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles | European Journal of Medical Genetics | 2014 | 211 |
| 7 | Congenital disorders of glycosylation (CDG): Quo vadis? | European Journal of Medical Genetics | 2018 | 191 |
| 8 | Microduplication 22q11.2: A new chromosomal syndrome | European Journal of Medical Genetics | 2009 | 187 |
| 9 | Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification | European Journal of Medical Genetics | 2005 | 184 |
| 10 | Classification of Osteogenesis Imperfecta revisited | European Journal of Medical Genetics | 2010 | 184 |
| 11 | SHP2 sails from physiology to pathology | European Journal of Medical Genetics | 2015 | 182 |
| 12 | Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands | European Journal of Medical Genetics | 2009 | 172 |
| 13 | Recent progress in the genetics of motor neuron disease | European Journal of Medical Genetics | 2014 | 169 |
| 14 | Associated congenital anomalies among cases with Down syndrome | European Journal of Medical Genetics | 2015 | 165 |
| 15 | The genetic basis of inherited anomalies of the teeth | European Journal of Medical Genetics | 2008 | 157 |
| 16 | Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome | European Journal of Medical Genetics | 2009 | 157 |
| 17 | Clinical variability of the 22q11.2 duplication syndrome | European Journal of Medical Genetics | 2008 | 152 |
| 18 | Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances | European Journal of Medical Genetics | 2009 | 152 |
| 19 | Associated malformations in patients with anorectal anomalies | European Journal of Medical Genetics | 2007 | 149 |
| 20 | Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of ERCC6 | European Journal of Medical Genetics | 2011 | 136 |
| 21 | Human laterality disorders | European Journal of Medical Genetics | 2006 | 134 |
| 22 | Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy | European Journal of Medical Genetics | 2010 | 130 |
| 23 | Germ-line and somatic PTPN11 mutations in human disease | European Journal of Medical Genetics | 2005 | 128 |
| 24 | Genotypes and phenotypes of Joubert syndrome and related disorders | European Journal of Medical Genetics | 2008 | 127 |
| 25 | Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool | European Journal of Medical Genetics | 2016 | 125 |
| 26 | Genetics of cleft lip and/or cleft palate: Association with other common anomalies | European Journal of Medical Genetics | 2014 | 122 |
| 27 | Clinical and Mutational Spectrum of Mowat–Wilson Syndrome | European Journal of Medical Genetics | 2005 | 121 |
| 28 | Prevalence of alcohol consumption during pregnancy and Fetal Alcohol Spectrum Disorders among the general and Aboriginal populations in Canada and the United States | European Journal of Medical Genetics | 2017 | 101 |
| 29 | The genetics of auricular development and malformation: New findings in model systems driving future directions for microtia research | European Journal of Medical Genetics | 2014 | 100 |
| 30 | The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients | European Journal of Medical Genetics | 2005 | 99 |
| 31 | GATA4 mutations in 486 Chinese patients with congenital heart disease | European Journal of Medical Genetics | 2008 | 95 |
| 32 | Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature | European Journal of Medical Genetics | 2010 | 95 |
| 33 | Tubulin genes and malformations of cortical development | European Journal of Medical Genetics | 2018 | 93 |
| 34 | Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy | European Journal of Medical Genetics | 2011 | 92 |
| 35 | Neurological findings in incontinentia pigmenti; a review | European Journal of Medical Genetics | 2012 | 92 |
| 36 | Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges | European Journal of Medical Genetics | 2014 | 91 |
| 37 | Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience | European Journal of Medical Genetics | 2009 | 90 |
| 38 | MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions | European Journal of Medical Genetics | 2007 | 89 |
| 39 | Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases | European Journal of Medical Genetics | 2009 | 89 |
| 40 | A review of the physical features of the fetal alcohol spectrum disorders | European Journal of Medical Genetics | 2017 | 86 |
| 41 | Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis | European Journal of Medical Genetics | 2008 | 84 |
| 42 | A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis | European Journal of Medical Genetics | 2009 | 83 |
| 43 | Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients | European Journal of Medical Genetics | 2015 | 83 |
| 44 | Reporting practices for variants of uncertain significance from next generation sequencing technologies | European Journal of Medical Genetics | 2017 | 83 |
| 45 | The occurrence of aneuploidy in human: lessons from the cytogenetic studies of human oocytes | European Journal of Medical Genetics | 2006 | 82 |
| 46 | Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights | European Journal of Medical Genetics | 2020 | 82 |
| 47 | Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress | European Journal of Medical Genetics | 2009 | 80 |
| 48 | Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition | European Journal of Medical Genetics | 2013 | 79 |
| 49 | The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement | European Journal of Medical Genetics | 2008 | 78 |
| 50 | Molecular characteristics of inherited congenital cataracts | European Journal of Medical Genetics | 2010 | 78 |
