Skip to Main Content

Author Details

Nicole de Leeuw
Radboud University Medical Center
1996
134
40
PMIDPaper TitleJournal TitlePublished Year
35848593Identification of a Novel <i>CYP11B2</i> Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyJ Clin Res Pediatr Endocrinol2024
36114283The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.Eur J Hum Genet2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
38089737A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.Clin Neuropsychiatry2023
37287653Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.Intractable Rare Dis Res2023
37216008A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation.HGG Adv2023
37154149Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.Genet Med2023
36781956Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.Eur J Hum Genet2023
36647814All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.Prenat Diagn2023
33981013Stepwise ABC system for classification of any type of genetic variant.Eur J Hum Genet2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35390071Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.PLoS One2022
36553645Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.Genes (Basel)2022
35964930Phenotype of COL3A1/COL5A2 deletion patients.Eur J Med Genet2022
36029130Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.Clin Genet2022
35088940LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.Autism Res2022
34906484Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.Genet Med2022
3453089515q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.Ital J Pediatr2021
34375587Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.Am J Hum Genet2021
34739836Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.Am J Hum Genet2021
31465867A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome.Eur J Med Genet2020
33728254Monoamine oxidase A activity in fibroblasts as a functional confirmation of <i>MAOA</i> variants.JIMD Rep2020
31767986Accurate detection of clinically relevant uniparental disomy from exome sequencing data.Genet Med2020
31849056From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.J Child Psychol Psychiatry2020
32945093Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.Am J Med Genet A2020
32333414Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.Prenat Diagn2020
32524056Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>.Epilepsia Open2020
32109418Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.Am J Hum Genet2020
30275486European guidelines for constitutional cytogenomic analysis.Eur J Hum Genet2019
31686214Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.Hum Genet2019
30125676PRRT2-related phenotypes in patients with a 16p11.2 deletion.Eur J Med Genet2019
31473642Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.BMJ Case Rep2019
30950205Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report.Mol Genet Genomic Med2019
29416845<i>EHMT1</i> mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.Mol Autism2018
27841880The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nat Genet2017
28703264[Simple is not always easy: genetics in general psychiatry].Tijdschr Psychiatr2017
28574513Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.Genet Med2017
26721934TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Hum Mol Genet2016
26350515Novel genetic causes for cerebral visual impairment.Eur J Hum Genet2016
27296938Duplications of SLC1A3: Associated with ADHD and autism.Eur J Med Genet2016
27569549DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.Am J Hum Genet2016
27071622Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.Hum Genet2016
25424714Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Eur J Hum Genet2015
26279651Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.Mol Syndromol2015
26269249Further delineation of the KBG syndrome caused by ANKRD11 aberrations.Eur J Hum Genet2015
25887030The clustering of functionally related genes contributes to CNV-mediated disease.Genome Res2015
25781962Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.PLoS Genet2015
25425063A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics.Am J Med Genet A2015
24239950Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.Eur J Med Genet2014
26258046Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.Genom Data2014
  • 1 - 50 of 134

Recommended Authors

Johns Hopkins University School of Medicine
Career Start Year 2012
Number of shared co-authors 7
Institut fur Klinische Genetik, Technische Universitat Dresden
Career Start Year 2012
Number of shared co-authors 9
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2010
Number of shared co-authors 3
Baylor College of Medicine
Career Start Year 2008
Number of shared co-authors 21
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 0
Hopital Universitaire de Nantes
Career Start Year 2005
Number of shared co-authors 15
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 24
Haukeland University Hospital
Career Start Year 2004
Number of shared co-authors 32
Nationwide Children's Hospital, The Ohio State University College of Medicine
Career Start Year 2003
Number of shared co-authors 10
University Hospital Basel and University of Basel
Career Start Year 2002
Number of shared co-authors 12
Pathology and Laboratory Medicine Institute, Cleveland Clinic
Career Start Year 2001
Number of shared co-authors 5
Guy's and St Thomas' Hospital
Career Start Year 2000
Number of shared co-authors 27
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 14
University of British Columbia
Career Start Year 1998
Number of shared co-authors 4
University of British Columbia
Career Start Year 1997
Number of shared co-authors 11
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 22
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 33
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 48
Duke University School of Medicine
Career Start Year 1994
Number of shared co-authors 20
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 6
Cincinnati Children's Hospital Medical Center
Career Start Year 1993
Number of shared co-authors 35
Phoenix Children's Hospital
Career Start Year 1992
Number of shared co-authors 17
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 18
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 7
University College Dublin
Career Start Year 1989
Number of shared co-authors 42
Children's Hospital of Philadelphia
Career Start Year 1989
Number of shared co-authors 8
University of Manchester
Career Start Year 1986
Number of shared co-authors 47
The Perelman School of Medicine at the University of Pennsylvania
Career Start Year 1984
Number of shared co-authors 22
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Career Start Year 1983
Number of shared co-authors 41
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Career Start Year 1981
Number of shared co-authors 35

Collaborators

Radboud University Medical Center
Co-authored papers 46
Maastricht University Medical Centre
Co-authored papers 28
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 21
Princess Maxima Center for Pediatric Oncology
Co-authored papers 19
Radboud University Medical Center
Co-authored papers 12
Radboud University Medical Center
Co-authored papers 8
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
Co-authored papers 5
University of Washington
Co-authored papers 4
University of Washington School of Medicine
Co-authored papers 3
Co-authored papers 3
Institute of Human Development, University of Manchester
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Katholieke Universiteit Leuven
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 2
Max Planck Institute for Molecular Genetics
Co-authored papers 2
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 2
The Hospital for Sick Children
Co-authored papers 2
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
St George's University Hospitals NHS Foundation Trust
Co-authored papers 2
University of Lausanne
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 2
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 2
Murdoch Children's Research Institute
Co-authored papers 2
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 2