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Alexander J.M. Dingemans

radboud university
H指数:18
被引数:1,520

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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH 基于表型包的孟德尔疾病基因型-表型相关性表征

2025-12-230
OAAI
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血:扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

2025-10-300
PRE
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

大型语言模型在罕见病诊断中的跨十种语言和4917例病例的持续性能

2025-10-140
OAAI
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

SETBP1变异体位于降解基序之外,会破坏DNA结合、转录以及神经元分化能力,从而引发一种异质性神经发育障碍。

2025-10-100
OAAI
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
2025-01-010
OAAI
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制

2024-08-018
PRE
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍

2024-08-014
PRE
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
2024-05-141
PRE
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

USP7变异引起的Hao-Fountain综合征的DNA甲基化表观签名,临床特征的扩展和比较表观基因组分析

2024-03-013
OAAI
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells(vol 32, 324, 2024 )
2024-02-150
OAAI
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
2024-01-293
OAAI
The Human Phenotype Ontology in 2024: phenotypes around the world

人类表型本体论2024年: 世界各地的表型

2023-11-1130
OAAI
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
2023-11-011
OA
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
2023-11-011
OA
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
2023-10-012
PRE
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
2023-08-0716
OA
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
2023-01-017
OAAI