The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
2016 · Nature Genetics · 350 citations
https://doi.org/10.1038/ng.3720
E
Ernie M.H.F. Bongers
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Ernie M.H.F. Bongers is an academic researcher from Radiotherapiegroep. The author has contributed to research in topics: Renal and related cancers & Genomic variations and chromosomal abnormalities & Genetic and Kidney Cyst Diseases. The author has an h-index of 48, co-authored 91 publications.
Papers by this author
worksExome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
2013 · Journal of Medical Genetics · 140 citations
https://doi.org/10.1136/jmedgenet-2012-101284
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
2013 · Orphanet Journal of Rare Diseases · 83 citations
https://doi.org/10.1186/1750-1172-8-63
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
2020 · Genetics in Medicine · 37 citations
https://doi.org/10.1038/s41436-020-01040-6
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
2018 · Pediatric Nephrology · 33 citations
https://doi.org/10.1007/s00467-018-3958-7
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
2022 · Translational Psychiatry · 33 citations
https://doi.org/10.1038/s41398-022-02189-1
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