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D. Lugtenberg · SciRah

Researcher profile · Semantic Scholar

D. Lugtenberg

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D. Lugtenberg — researcher profile on SciRah

h-index: 32
Works: 64
Citations: 3,744

Most-cited papers

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
H. Van Esch, Marijke Bauters, J. Ignatius, M. Jansen +10 more
2005American Journal of Human Genetics667 citations Open access
Semantic Scholar
A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K. Neveling, I. Feenstra, C. Gilissen, L. Hoefsloot +28 more
2013Human Mutation346 citations Open access
Semantic Scholar
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
M. Willemsen, L. Vissers, M. Willemsen, B. V. van Bon +10 more
2012Journal of Medical Genetics188 citations
Semantic Scholar
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
R. Pfundt, M. del Rosario, L. Vissers, Michael Kwint +17 more
2016Genetics in Medicine183 citations Open access
Semantic Scholar
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
R. Sangermano, Mubeen Khan, S. S. Cornelis, Valerie Richelle +8 more
2018Genome Research160 citations Open access
Semantic Scholar
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
L. Haer-Wigman, W. V. van Zelst-Stams, R. Pfundt, L. I. van den Born +21 more
2017European Journal of Human Genetics127 citations Open access
Semantic Scholar
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D. Lugtenberg, A. D. de Brouwer, T. Kleefstra, Astrid R. Oudakker +12 more
2005Journal of Medical Genetics114 citations Open access
Semantic Scholar
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium
A. D. de Brouwer, H. Yntema, T. Kleefstra, D. Lugtenberg +29 more
2007Human Mutation112 citations Open access
Semantic Scholar
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
J. V. van Rijn, R. Ardy, Z. Kuloğlu, Bettina Härter +34 more
2018Gastroenterology110 citations Open access
Semantic Scholar
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
D. Lugtenberg, T. Kleefstra, Astrid R. Oudakker, W. Nillesen +20 more
2009European Journal of Human Genetics103 citations Open access
Semantic Scholar
Arts syndrome is caused by loss-of-function mutations in PRPS1.
A. D. de Brouwer, K. Williams, J. Duley, A. V. van Kuilenburg +13 more
2007American Journal of Human Genetics94 citations Open access
Semantic Scholar
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
D. Lugtenberg, T. Kleefstra, Astrid R. Oudakker, W. Nillesen +20 more
2009European Journal of Human Genetics91 citations Open access
Semantic Scholar
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
D. Lugtenberg, H. Yntema, M. J. Banning, Astrid R. Oudakker +15 more
2006American Journal of Human Genetics91 citations Open access
Semantic Scholar
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
E. H. Runhart, R. Sangermano, S. S. Cornelis, J. Verheij +15 more
2018Investigative Ophthalmology and Visual Science86 citations Open access
Semantic Scholar
Genotype–phenotype correlations in MYCN‐related Feingold syndrome
C. Marcelis, F. Hol, G. Graham, P. Rieu +7 more
2008Human Mutation80 citations Open access
Semantic Scholar
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
S. Roosing, Ideke J. C. Lamers, E. de Vrieze, L. I. van den Born +22 more
2014American Journal of Human Genetics77 citations Open access
Semantic Scholar
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
A. T. Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, S. Vergult +32 more
2014American Journal of Human Genetics74 citations Open access
Semantic Scholar
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Lindsay C. Burrage, W. Charng, M. Eldomery, J. Willer +26 more
2015American Journal of Human Genetics72 citations Open access
Semantic Scholar
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Arijit Mukhopadhyay, Jamie M. Kramer, G. Merkx, D. Lugtenberg +11 more
2010Human Genetics67 citations Open access
Semantic Scholar
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
M. Salih, I. Gautschi, M. V. van Bemmelen, Michael Di Benedetto +4 more
2017Journal of the American Society of Nephrology65 citations Open access
Semantic Scholar
Identity of the RNase MRP- and RNase P-associated Th/To autoantigen.
H. van Eenennaam, J. Vogelzangs, D. Lugtenberg, F. V. D. van den Hoogen +2 more
2002Arthritis & Rheumatism61 citations Open access
Semantic Scholar
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
J. Veltman, H. Yntema, D. Lugtenberg, H. Arts +8 more
2004Journal of Medical Genetics59 citations Open access
Semantic Scholar
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
E. Bongers, Luke M. Shelton, S. Milatz, S. Verkaart +8 more
2017Journal of the American Society of Nephrology52 citations Open access
Semantic Scholar
hPop5, a Protein Subunit of the Human RNase MRP and RNase P Endoribonucleases*
H. van Eenennaam, D. Lugtenberg, J. Vogelzangs, W. V. van Venrooij +1 more
2001Journal of Biological Chemistry52 citations Open access
Semantic Scholar
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
C. Lee, He Fu, N. Baratang, J. Rousseau +29 more
2017American Journal of Human Genetics50 citations Open access
Semantic Scholar
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis
I. Feenstra, N. Hanemaaijer, B. Sikkema‐Raddatz, H. Yntema +11 more
2011European Journal of Human Genetics49 citations Open access
Semantic Scholar
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
Karl P. Schlingmann, A. Renigunta, E. Hoorn, A. Forst +27 more
2021Journal of the American Society of Nephrology48 citations Open access
Semantic Scholar
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
M. Oud, L. Ramos, M. O'Bryan, R. McLachlan +14 more
2017Human Mutation48 citations Open access
Semantic Scholar
Neurologic aspects of MECP2 gene duplication in male patients.
B. Echenne, A. Roubertie, D. Lugtenberg, T. Kleefstra +6 more
2009Pediatric Neurology48 citations
Semantic Scholar
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
D. Lugtenberg, M. Reijnders, Michaela Fenckova, E. Bijlsma +26 more
2016European Journal of Human Genetics47 citations Open access
Semantic Scholar
Genome sequencing as a generic diagnostic strategy for rare disease
G. Schobers, R. Derks, A. den Ouden, Hilde L. Swinkels +26 more
2023Genome Medicine40 citations Open access
Semantic Scholar
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
F. Jehee, A. C. Krepischi-Santos, K. Rocha, D. Cavalcanti +10 more
2008Journal of Medical Genetics35 citations
Semantic Scholar
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
M. Oud, Brooke L. Latour, Zeineb Bakey, S. Letteboer +7 more
2018Cilia31 citations Open access
Semantic Scholar
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
Bram Peters, J. Schuurs-Hoeijmakers, J. Fuijkschot, A. Reimer +3 more
2016Pediatric Rheumatology Online Journal24 citations Open access
Semantic Scholar
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
D. Lugtenberg, A. D. de Brouwer, Astrid R. Oudakker, R. Pfundt +3 more
2009American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Polycystic liver disease genes: practical considerations for genetic testing.
Melissa M. Boerrigter, E. Bongers, D. Lugtenberg, F. Nevens +1 more
2021European Journal of Medical Genetics23 citations Open access
Semantic Scholar
High-resolution genomic microarrays for X-linked mental retardation
D. Lugtenberg, J. Veltman, H. van Bokhoven
2007Genetics in Medicine22 citations Open access
Semantic Scholar
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Ilse M. Rood, J. Deegens, D. Lugtenberg, E. Bongers +1 more
2019American Journal of Kidney Diseases21 citations
Semantic Scholar
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
L. Haer-Wigman, A. den Ouden, M. V. van Genderen, H. Kroes +12 more
2022npj Genomic Medicine20 citations Open access
Semantic Scholar
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
J. C. Van De Weghe, J. Giordano, I. B. Mathijssen, M. Mojarrad +16 more
2020HGG advances16 citations Open access
Semantic Scholar
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Cenna Doornbos, R. van Beek, E. Bongers, D. Lugtenberg +4 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes
Ilse M. Rood, Aernoud P. Bavinck, B. Lipska-Ziętkiewicz, D. Lugtenberg +3 more
2021Kidney International Reports12 citations Open access
Semantic Scholar
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families
Sander Groen In 't Woud, Ilse M. Rood, E. Steenbergen, Brigith K. Willemsen +7 more
2023Kidney Medicine9 citations Open access
Semantic Scholar
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
Ilse M. Rood, E. Bongers, D. Lugtenberg, I. Klein +3 more
2016Netherlands Journal of Medicine7 citations
Semantic Scholar
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
D. Lugtenberg, L. Zangrande-Vieira, M. Kirchhoff, Annabel C. Whibley +26 more
2010American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Clinical long-read genome sequencing for rare disease diagnostics
T. D. de Bitter, B. van der Sanden, L. Sagath, W. HoÌps +32 more
2026medRxiv5 citations Open access
Semantic Scholar
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
T. D. de Bitter, B. van der Sanden, L. Sagath, Wolfram Höps +33 more
2026New England Journal of Medicine3 citations
Semantic Scholar
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family
S. Hassan, M. Kempers, D. Lugtenberg, A. Abdallah +3 more
2021The Pan African Medical Journal3 citations Open access
Semantic Scholar
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
R. Smits, M. Oud, L. Vissers, D. Lugtenberg +4 more
2019Reproductive Biomedicine Online3 citations
Semantic Scholar
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
H. Kroes, R. Hochstenbach, R. Nievelstein, A. den Hollander +4 more
2011Clinical Dysmorphology3 citations
Semantic Scholar

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