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Ruivenkamp, C.A.L.
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Search results
(1 - 24 of 81)
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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
Clinical phenotype of FOXP1 syndrome
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Diagnostic value of a protocolized in-depth evaluation of pediatric bone marrow failure
Gene-disease relationship evidence
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Population pharmacokinetics of clonazepam in saliva and plasma
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021)
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Prenatal exome sequencing
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
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