Ernie M.H.F. Bongers

Radiotherapie Groep — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index8.3kcitations105works0.02yr avg
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Research Topics

Renal and related cancers(21), Genomic variations and chromosomal abnormalities(20), Genetic and Kidney Cyst Diseases(14), Genomics and Rare Diseases(12), Genetics and Neurodevelopmental Disorders(12)

Publications103 total

P25.05.A THE IMPACT OF THE COVID-19 PANDEMIC ON NEURO-ONCOLOGY: REPORT FROM THE DUTCH BRAIN TUMOUR REGISTRY
Neuro-Oncology·2024Open Access
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families
Kidney Medicine·2023· 8 citedOpen Access
Combined germline pathogenic variants in <i>FLCN</i> and <i>TP53</i> are associated with early onset renal cell carcinoma and brain tumors
Molecular Genetics & Genomic Medicine·2022· 5 citedOpen Access
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Translational Psychiatry·2022· 32 citedOpen Access
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
Frontiers in Genetics·2022· 8 citedOpen Access
Minimally invasive lobectomy versus stereotactic ablative radiotherapy for stage I non-small cell lung cancer
European Journal of Cardio-Thoracic Surgery·2022· 14 citedOpen Access
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
European Journal of Human Genetics·2021· 14 citedOpen Access
CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies
European Urology Open Science·2021· 10 citedOpen Access
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
European Journal of Human Genetics·2021· 25 citedOpen Access
Polycystic liver disease genes: Practical considerations for genetic testing
European Journal of Medical Genetics·2021· 22 citedOpen Access
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Genetics in Medicine·2020· 37 citedOpen Access
Genome-wide association study identifies CDH12 as candidate gene for renal injury in patients with posterior urethral valves
European Urology Open Science·2020Open Access
Recessive mosaicism in <i>ABCA12</i> causes blaschkoid congenital ichthyosiform erythroderma
British Journal of Dermatology·2019· 9 citedOpen Access
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
The American Journal of Human Genetics·2019· 51 citedOpen Access
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
The American Journal of Human Genetics·2019· 13 citedOpen Access
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
The American Journal of Human Genetics·2018· 59 citedOpen Access
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling
American Journal of Kidney Diseases·2018· 25 cited
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies
Journal of Proteomics·2018· 28 citedOpen Access
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
Pediatric Nephrology·2018· 33 citedOpen Access
Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail–patella syndrome. KSSTA 2017 Oct;25(10):3012–3016. https://doi.org/10.1007/s00167‐016‐4044‐y. Epub 2016 Feb 12
Knee Surgery Sports Traumatology Arthroscopy·2018
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Frequent Co-authors

Bert B.A. de Vries(13), Nine V.A.M. Knoers(13), Han G. Brunner(11), Joris A. Veltman(10), Jeroen Schoots(10), Lies H. Hoefsloot(10), Lisenka E.L.M. Vissers(9), Nine Knoers(8), Rolph Pfundt(7), Christian Gilissen(7), Hans van Bokhoven(7), William Reardon(6), Raoul C. M. Hennekam(6), Helger G. Yntema(6), Bregje W.M. van Bon(6), David A. Koolen(6), Annick Toutain(6), Alexander Hoischen(6), Sonja A. de Munnik(6), Nicole de Leeuw(5)