E. Bongers

E. Bongers, R. Salomon, C. Antignac, 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

Loss-of-function mutations in TGFB 2 cause a syndromic presentation of thoracic aortic aneurysm

Gallo, Brunner, E. Fishman, 2013 .

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

E. Fishman, E. Bongers, G. Mortier, 2012, Nature Genetics.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

L. Vissers, W. Reardon, E. Bongers, 2012, American journal of human genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, Human molecular genetics.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

A. Green, W. Reardon, E. Bongers, 2011, European Journal of Human Genetics.

Clonal origin of trisomy for chromosome 7 in the epithelial compartment of colon neoplasia

E. Bongers, J. Arends, J. Herbergs, 1996, Genes, chromosomes & cancer.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

B. V. van Bon, A. Hoischen, N. de Leeuw, 2014, American journal of medical genetics. Part A.

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

C. Klaver, E. Bongers, A. Swaroop, 2017, Ophthalmology.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

B. V. van Bon, M. Fichera, B. D. de Vries, 2009, European journal of medical genetics.

Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature

E. Bongers, B. Semmekrot, H. Marres, 2001, European Journal of Pediatrics.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

L. Vissers, E. Bongers, R. Roepman, 2021, European Journal of Human Genetics.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Martijn A. R. Leisink, W. Reardon, J. Veltman, 2005, European Journal of Human Genetics.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Saskia B Wortmann, Eva Morava, Martin Lammens, 2011, European Journal of Human Genetics.

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

E. Bongers, J. Wetzels, J. Hoenderop, 2013, The Journal of clinical endocrinology and metabolism.

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

E. Bongers, J. Deegens, J. Wetzels, 2023, Kidney medicine.

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

B. Franke, I. V. van Rooij, E. Cuppen, 2016, Kidney international.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

Common variants in DGKK are strongly associated with risk of hypospadias

L. Kiemeney, B. Franke, J. Veltman, 2011, Nature Genetics.

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.

E. Bongers, J. Deegens, J. Wetzels, 2019, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited.

P. Bult, E. Bongers, H. Brunner, 2008, Annals of oncology : official journal of the European Society for Medical Oncology.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

E. Bongers, N. Pachter, J. Denecke, 2021, European Journal of Human Genetics.

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

E. Bongers, N. Knoers, 2003, Nederlands tijdschrift voor geneeskunde.

Nail-Patella Syndrome : Identification of Mutations in the LMX 1 B Gene in Dutch Families NINE

E. Bongers, H. Bokhoven, V. Knoers, 2000 .

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

J. Cruysberg, E. Bongers, L. Hoefsloot, 2005, European Journal of Human Genetics.

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

E. Bongers, L. Hoefsloot, N. Knoers, 2008, European Journal of Human Genetics.

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.

I. V. van Rooij, E. Bongers, N. Knoers, 2016, Birth defects research. Part A, Clinical and molecular teratology.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

I. V. van Rooij, E. Bongers, P. Winyard, 2021, European urology open science.

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

V. M. Kozlov, E. Bongers, V. Lefebvre, 2018, Kidney international.

Polycystic liver disease genes: practical considerations for genetic testing.

E. Bongers, F. Nevens, J. Drenth, 2021, European journal of medical genetics.

Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia

E. Bongers, A. Kampen, S. Koëter, 2006, Knee Surgery, Sports Traumatology, Arthroscopy.

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

E. Bongers, S. Piersma, R. Giles, 2019, Journal of proteomics.

Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

E. Bongers, R. Giles, N. Knoers, 2014, Nephron.

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia.

E. Bongers, C. Woods, H. van Bokhoven, 2002, American journal of medical genetics.

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.

E. Bongers, H. Brunner, R. Rodenburg, 2007, Clinical dysmorphology.

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

E. Bongers, M. Shenoy, R. Rodenburg, 2021, Journal of the American Society of Nephrology : JASN.

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

R. Ravazzolo, E. Bongers, N. Knoers, 2003, International journal of molecular medicine.

Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.

E. Bongers, A. van Kampen, S. Tigchelaar, 2015, Orthopaedics & traumatology, surgery & research : OTSR.

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

E. Bongers, A. Latos-Bieleńska, E. Obersztyn, 2022, Frontiers in Genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Edinburgh Research Explorer Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2018 .

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

R. Pfundt, E. Bongers, H. van Bokhoven, 2009, American journal of medical genetics. Part A.

Human syndromes with congenital patellar anomalies and the underlying gene defects

E. Bongers, A. van Kampen, H. van Bokhoven, 2005, Clinical genetics.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

E. Bongers, J. Wetzels, S. Milatz, 2017, Journal of the American Society of Nephrology : JASN.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

E. Bongers, L. Opitz, J. Schoumans, 2014, Human Genetics.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

J. Schuurs-Hoeijmakers, A. Hoischen, A. Reymond, 2013, Clinical genetics.