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Author Details

Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
2017
31
11
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36399132DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.Genet Med2023
37658852Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Genet Med2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
37728613De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.Genet Med2023
37422718De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.Genet Med2023
34521999Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.Eur J Hum Genet2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35833929Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Genet Med2022
36182950The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Transl Psychiatry2022
34906484Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.Genet Med2022
33437032Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.Eur J Hum Genet2021
33603161Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.Eur J Hum Genet2021
33909990Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Am J Hum Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
34440449A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Genes (Basel)2021
33439542Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.Am J Med Genet A2021
32109419Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Am J Hum Genet2020
32814847Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genet Med2020
32783353Behavior and cognitive functioning in Witteveen-Kolk syndrome.Am J Med Genet A2020
29232722Primary or Redo Posterior Sagittal Anorectoplasty without a Stoma: To Feed or Not to Feed?Eur J Pediatr Surg2019
29909603Urinary Outcomes in Patients with Down's Syndrome and Hirschsprung's Disease.Eur J Pediatr Surg2019
30245513KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genet Med2019
31027906The use of rotational fluoroscopy and 3-D reconstruction in the diagnosis and surgical planning for complex cloacal malformations.J Pediatr Surg2019
30929739De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.Am J Hum Genet2019
28528713Sociodemographics and the impact of a colostomy to indigent families and children with colorectal disorders in Honduras.J Pediatr Surg2018
30483511The Impact of Manuscript Learning vs. Video Learning on a Surgeon's Confidence in Performing a Difficult Procedure.Front Surg2018
29550037Health literacy and health-related quality of life in patients with anorectal malformations: A comparison between a charity hospital in Honduras and a tertiary care center in the United States.J Pediatr Surg2018
29773453A structured bowel management program for patients with severe functional constipation can help decrease emergency department visits, hospital admissions, and healthcare costs.J Pediatr Surg2018
29223544Does clinic visit education within a multidisciplinary center improve health literacy scores in caregivers of children with complex colorectal conditions?J Pediatr Surg2017
28053499Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life.Clin Ophthalmol2016
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Collaborators

Radboud University Medical Center
Co-authored papers 13
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 6
Maastricht University Medical Centre
Co-authored papers 5
Radboud University Medical Center
Co-authored papers 5
Radboud University Medical Center
Co-authored papers 4
Princess Maxima Center for Pediatric Oncology
Co-authored papers 4
Mayo Clinic College of Medicine and Science
Co-authored papers 3
Murdoch Children's Research Institute
Co-authored papers 2
Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari
Co-authored papers 2
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Co-authored papers 2
university of california los angeles
Co-authored papers 2
New York University Langone Medical Center
Co-authored papers 2
Co-authored papers 2
University of Manchester
Co-authored papers 2
Cincinnati Children's Hospital Medical Center
Co-authored papers 2
Stanford University
Co-authored papers 2
Co-authored papers 2
Radboud University Medical Center
Co-authored papers 2
University of Washington
Co-authored papers 2
Big Data Institute, University of Oxford
Co-authored papers 2
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
Harvard Medical School
Co-authored papers 1
Dalhousie University
Co-authored papers 1
University of Colorado Anschutz Medical Campus
Co-authored papers 1
St. Anna Children's Cancer Research Institute (CCRI)
Co-authored papers 1
University Medical Center Groningen
Co-authored papers 1