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C. Weemaes · SciRah

Researcher profile · Semantic Scholar

C. Weemaes

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C. Weemaes — researcher profile on SciRah

h-index: 44
Works: 187
Citations: 8,086

Most-cited papers

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
M. Seidel, G. Kindle, B. Gathmann, I. Quinti +55 more
2019Journal of Allergy and Clinical Immunology: In Practice579 citations Open access
Semantic Scholar
Mutations in CDCA7 and HELLS cause Immunodeficiency- Centromeric Instability-Facial Anomalies Syndrome
P. E. Thijssen, Y. Ito, G. Grillo, Jun Wang +25 more
2015Nature Communications183 citations Open access
Semantic Scholar
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
N. V. van Os, N. Roeleveld, C. Weemaes, M. Jongmans +4 more
2016Clinical Genetics177 citations
Semantic Scholar
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
J. D. de Greef, Jun Wang, J. Balog, J. D. den Dunnen +21 more
2011American Journal of Human Genetics177 citations Open access
Semantic Scholar
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study
M. Verhagen, James I. K. Last, F. Hogervorst, D. Smeets +29 more
2012Human Mutation174 citations
Semantic Scholar
Clinical spectrum of ataxia-telangiectasia in adulthood
M. Verhagen, W. F. Abdo, M. Willemsen, F. Hogervorst +15 more
2009Neurology162 citations
Semantic Scholar
Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
T. Sprong, D. Roos, C. Weemaes, C. Neeleman +3 more
2006Blood148 citations
Semantic Scholar
Chromosome instability syndromes
A. Taylor, C. Rothblum-Oviatt, N. Ellis, I. Hickson +6 more
2018Nature Reviews Disease Primers144 citations Open access
Semantic Scholar
The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes
R. Janssen, Annelies van Wengen, M. Hoeve, M. T. ten Dam +9 more
2004Journal of Experimental Medicine134 citations Open access
Semantic Scholar
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M. Hagleitner, A. Lankester, P. Maraschio, Maj Hultén +21 more
2007Journal of Medical Genetics133 citations Open access
Semantic Scholar
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
C. Weemaes, M. V. van Tol, Jun Wang, M. M. van Ostaijen-ten Dam +19 more
2013European Journal of Human Genetics126 citations Open access
Semantic Scholar
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
J. Noordzij, Nicole S. Verkaik, M. van der Burg, L. V. van Veelen +8 more
2003Blood104 citations Open access
Semantic Scholar
Multidrug resistance in Aspergillus fumigatus.
A. Warris, C. Weemaes, P. Verweij
2002New England Journal of Medicine93 citations
Semantic Scholar
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
P. E. Thijssen, Y. Ito, G. Grillo, Jun Wang +25 more
2016Nature Communications86 citations Open access
Semantic Scholar
Ataxia-telangiectasia: Immunodeficiency and survival.
N. V. van Os, A. Jansen, M. van Deuren, Á. Haraldsson +13 more
2017Clinical Immunology82 citations Open access
Semantic Scholar
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
J. D. de Greef, M. Wohlgemuth, O. Chan, Kerstin B. M. Hansson +5 more
2007Neurology82 citations
Semantic Scholar
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
K. Schon, N. V. van Os, N. Oscroft, H. Baxendale +14 more
2018Annals of Neurology80 citations Open access
Semantic Scholar
Alpha-fetoprotein, a fascinating protein and biomarker in neurology.
J. Schieving, M. D. de Vries, J. V. van Vugt, C. Weemaes +4 more
2014European journal of paediatric neurology77 citations
Semantic Scholar
Neuropathology in classical and variant ataxia‐telangiectasia
M. Verhagen, Jean-Jacques Martin, M. van Deuren, C. Ceuterick-de Groote +5 more
2012Neuropathology (Kyoto. 1993)72 citations
Semantic Scholar
NBS1 recruits RAD18 via a RAD6-like domain and regulates Pol η-dependent translesion DNA synthesis.
Hiromi Yanagihara, Junya Kobayashi, S. Tateishi, Akihiro Kato +11 more
2011Molecules and Cells70 citations Open access
Semantic Scholar
Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?
L. Chiam, M. Verhagen, Ásgeir Haraldsson, Nico M. Wulffraat +5 more
2011Dermatology69 citations Open access
Semantic Scholar
Cytokine responses and regulation of interferon-gamma release by human mononuclear cells to Aspergillus fumigatus and other filamentous fungi.
A. Warris, M. Netea, P. Verweij, P. Gaustad +3 more
2005Medical Mycology62 citations Open access
Semantic Scholar
Recurrent and Opportunistic Infections in Children With Primary Intestinal Lymphangiectasia
M. P. Dierselhuis, J. Boelens, F. Versteegh, C. Weemaes +1 more
2007Journal of Pediatric Gastroenterology and Nutrition - JPGN47 citations Open access
Semantic Scholar
Results of 2 years of treatment with protease-inhibitor--containing antiretroviral therapy in dutch children infected with human immunodeficiency virus type 1.
A. V. van Rossum, S. Geelen, N. Hartwig, T. Wolfs +8 more
2002Clinical Infectious Diseases46 citations
Semantic Scholar
Hematopoietic Stem Cell Transplantation Corrects the Immunologic Abnormalities Associated With Immunodeficiency–Centromeric Instability–Facial Dysmorphism Syndrome
A. Gennery, M. Slatter, R. Bredius, M. Hagleitner +3 more
2007Pediatrics44 citations Open access
Semantic Scholar
ATM: Translating the DNA Damage Response to Adaptive Immunity.
T. J. Weitering, S. Takada, C. Weemaes, P. V. van Schouwenburg +1 more
2021Trends in immunology42 citations
Semantic Scholar
Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene
M. de Boer, K. van Leeuwen, J. Geissler, C. Weemaes +4 more
2014Human Mutation42 citations
Semantic Scholar
Immunohistochemical features of cutaneous granulomas in primary immunodeficiency disorders: a comparison with cutaneous sarcoidosis
M. D. de Jager, W. Blokx, A. Warris, M. Bergers +3 more
2008Journal of cutaneous pathology40 citations
Semantic Scholar
Therapeutic drug monitoring of indinavir and nelfinavir to assess adherence to therapy in human immunodeficiency virus-infected children
A. V. van Rossum, A. Bergshoeff, P. Fraaij, P. Hugen +6 more
2002The Pediatric Infectious Disease Journal40 citations
Semantic Scholar
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
S. Veenhuis, N. V. van Os, A. Janssen, M. van Gerven +9 more
2021Movement Disorders39 citations Open access
Semantic Scholar
Immunodeficiency in Bloom’s Syndrome
M. Schoenaker, S. Henriet, J. Zonderland, M. van Deuren +5 more
2017Journal of Clinical Immunology38 citations Open access
Semantic Scholar
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Gertjan J. Driessen, Hanna IJspeert, C. Weemaes, Ásgeir Haraldsson +10 more
2013Journal of Allergy and Clinical Immunology38 citations
Semantic Scholar
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
N. V. van Os, L. Chessa, C. Weemaes, M. van Deuren +10 more
2019Journal of Medical Genetics37 citations Open access
Semantic Scholar
Unusual and severe disease course in a child with ataxia‐telangiectasia
I. Meyts, C. Weemaes, C. De Wolf-Peeters, M. Proesmans +3 more
2003Pediatric Allergy and Immunology35 citations
Semantic Scholar
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide
Hanna IJspeert, A. Lankester, J. M. van den Berg, W. Wiegant +9 more
2011Genes and Immunity33 citations Open access
Semantic Scholar
Sustained viral suppression and immune recovery in HIV type 1-infected children after 4 years of highly active antiretroviral therapy.
P. Fraaij, G. Verweel, A. V. van Rossum, E. V. van Lochem +5 more
2005Clinical Infectious Diseases32 citations Open access
Semantic Scholar
XLA Patients with BTK Splice-Site Mutations Produce Low Levels of Wild-Type BTK Transcripts
J. Noordzij, S. de Bruin-Versteeg, N. Hartwig, C. Weemaes +5 more
2002Journal of Clinical Immunology32 citations
Semantic Scholar
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
J. Hiel, B. V. van Engelen, C. Weemaes, A. Broeks +8 more
2006Neurology31 citations
Semantic Scholar
Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome.
W. Leen, C. Weemaes, M. Verbeek, M. Willemsen +1 more
2008Pediatric Neurology28 citations
Semantic Scholar
Classic ataxia-telangiectasia: the phenotype of long-term survivors
N. V. van Os, M. van Deuren, C. Weemaes, J. van Gaalen +4 more
2019Journal of Neurology26 citations Open access
Semantic Scholar
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia
M. Blom, M. H. D. Schoenaker, M. Hulst, M. D. de Vries +4 more
2019Frontiers in Immunology25 citations Open access
Semantic Scholar
Cognitive and speech-language performance in children with ataxia telangiectasia
A. Vinck, M. Verhagen, M. van Gerven, I. D. de Groot +3 more
2011Developmental Neurorehabilitation24 citations
Semantic Scholar
IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation
J. Langereis, S. Henriet, S. Kuipers, C. Weemaes +3 more
2018Journal of Clinical Immunology22 citations Open access
Semantic Scholar
NOP07 Neuromuscular abnormalities in ataxia telangiectasia; a clinical, electrophysiological and muscle ultrasound study
M. Verhagen, N. van Alfen, M. Willemsen, S. Pillen +5 more
200721 citations
Semantic Scholar
Gastrointestinal zygomycosis due to Rhizopus microsporus var. rhizopodiformis as a manifestation of chronic granulomatous disease.
R. Dekkers, P. Verweij, C. Weemaes, R. Severijnen +2 more
2008Medical Mycology20 citations
Semantic Scholar
Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome
M. van den Brand, U. Flucke, P. Bult, C. Weemaes +1 more
2011American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective
M. H. D. Schoenaker, M. Blom, M. D. de Vries, C. Weemaes +2 more
2019European Journal of Pediatrics17 citations Open access
Semantic Scholar
Ataxia‐Telangiectasia and mechanical ventilation: A word of caution
M. Verhagen, M. van Deuren, M. Willemsen, H. J. van der Hoeven +4 more
2009Pediatric Pulmonology17 citations Open access
Semantic Scholar
B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells.
M. van der Burg, C. Weemaes, F. Preijers, Paul Brons +4 more
2006Haematologica17 citations
Semantic Scholar
The absent and vanishing spleen: Congenital asplenia and hyposplenism—two case reports
F. Halbertsma, C. Neeleman, C. Weemaes, M. Deuren
2005Acta paediatrica17 citations
Semantic Scholar

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M. Willemsen — researcher profile on SciRah
M. van Deuren×9
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M. van der Burg×8
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M. Verhagen×8
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N. Roeleveld×5

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