| Congenital disorders of glycosylation (CDG): Quo vadis? |
31 |
| Tubulin genes and malformations of cortical development |
17 |
| Genetics of clubfoot; recent progress and future perspectives |
13 |
| NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families |
13 |
| Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience |
13 |
| Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation |
11 |
| Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome |
10 |
| Update on the use of exome sequencing in the diagnosis of fetal abnormalities |
10 |
| Epigenetic changes in mesenchymal stem cells differentiation |
10 |
| Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease |
10 |
| Attitudes of publics who are unwilling to donate DNA data for research |
8 |
| Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform |
7 |
| Sex differences for major congenital heart defects in Down Syndrome: A population based study |
7 |
| Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype |
7 |
| Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform |
7 |
| A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect |
7 |
| Further refinement of COL4A1 and COL4A2 related cortical malformations |
7 |
| Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication |
7 |
| Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale |
6 |
| Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients |
6 |
| Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function? |
6 |
| A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration |
6 |
| Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes |
6 |
| Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder |
6 |
| Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature |
6 |
| Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant |
6 |
| Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping |
6 |
| Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia |
6 |
| Correlation between RB1 germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy |
6 |
| Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors |
5 |
| HAND2 loss-of-function mutation causes familial dilated cardiomyopathy |
5 |
| De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder |
5 |
| A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction |
5 |
| Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 |
5 |
| LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters |
5 |
| Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency |
5 |
| Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe |
5 |
| Waardenburg syndrome: Novel mutations in a large Brazilian sample |
5 |
| Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience |
5 |
| The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort |
5 |
| TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome |
5 |
| Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective |
5 |
| Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review |
5 |
| Controlled ovarian hyperstimulation (COH) parameters associated with euploidy rates in donor oocytes |
5 |
| Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma |
5 |
| Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development |
5 |
| Harmonising phenomics information for a better interoperability in the rare disease field |
5 |
| Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases |
5 |
| A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family |
4 |
| A complex phenotype in a family with a pathogenic SOX3 missense variant |
4 |
