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M. Wilke · SciRah

Researcher profile · Semantic Scholar

M. Wilke

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M. Wilke — researcher profile on SciRah

h-index: 25
Works: 61
Citations: 2,084

Most-cited papers

Mouse models of cystic fibrosis: phenotypic analysis and research applications.
M. Wilke, Ruvalic M. Buijs-Offerman, J. Aarbiou, W. Colledge +6 more
2011Journal of Cystic Fibrosis212 citations Open access
Semantic Scholar
Rescue of functional delF508‐CFTR channels in cystic fibrosis epithelial cells by the α‐glucosidase inhibitor miglustat
C. Norez, S. Noel, M. Wilke, M. Bijvelds +4 more
2006FEBS Letters146 citations
Semantic Scholar
The HA-2 Minor Histocompatibility Antigen Is Derived from a Diallelic Gene Encoding a Novel Human Class I Myosin Protein
R. Pierce, Erin D. Field, T. Mutis, T. Golovina +9 more
2001Journal of Immunology137 citations Open access
Semantic Scholar
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R. Oegema, T. S. Barakat, M. Wilke, K. Stouffs +23 more
2020Nature Reviews Neurology114 citations Open access
Semantic Scholar
SYT1-associated neurodevelopmental disorder: a case series
K. Baker, S. Gordon, Holly Melland, Fabian Bumbak +27 more
2018Brain : a journal of neurology113 citations Open access
Semantic Scholar
Correction of the ΔPhe508 Cystic Fibrosis Transmembrane Conductance Regulator Trafficking Defect by the Bioavailable Compound Glafenine
R. Robert, G. Carlile, J. Liao, H. Balghi +9 more
2010Molecular Pharmacology99 citations
Semantic Scholar
Animal models of cystic fibrosis.
B. Scholte, D. Davidson, M. Wilke, H. D. de Jonge
2004Journal of Cystic Fibrosis98 citations Open access
Semantic Scholar
The Hematopoietic System–specific Minor Histocompatibility Antigen HA-1 Shows Aberrant Expression in Epithelial Cancer Cells
C. Klein, M. Wilke, J. Pool, C. Vermeulen +7 more
2002Journal of Experimental Medicine98 citations Open access
Semantic Scholar
THE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) IS EXPRESSED IN MATURATION STAGE AMELOBLASTS, ODONTOBLASTS AND BONE CELLS
A. Bronckers, L. Kalogeraki, Huub Jorna, M. Wilke +5 more
2009Bone76 citations Open access
Semantic Scholar
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
W. Dobyns, K. Aldinger, G. Ishak, G. Mirzaa +29 more
2018American Journal of Human Genetics66 citations Open access
Semantic Scholar
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
P. Magini, Daphne J. Smits, Laura V. Vandervore, R. Schot +48 more
2019American Journal of Human Genetics63 citations Open access
Semantic Scholar
Genomic identification of the minor histocompatibility antigen HA-1 locus by allele-specific PCR.
M. Wilke, J. Pool, J. D. den Haan, E. Goulmy
1998Tissue Antigens60 citations
Semantic Scholar
Parallel Improvement of Sodium and Chloride Transport Defects by Miglustat (n-Butyldeoxynojyrimicin) in Cystic Fibrosis Epithelial Cells
Sabrina Noël, M. Wilke, A. Bot, H. D. de Jonge +1 more
2008Journal of Pharmacology and Experimental Therapeutics51 citations Open access
Semantic Scholar
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Jordy Dekker, R. Schot, M. Bongaerts, W. D. de Valk +25 more
2023American Journal of Human Genetics47 citations Open access
Semantic Scholar
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Harnish +57 more
2022Cell Reports44 citations Open access
Semantic Scholar
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
K. Diderich, Kathleen Romijn, M. Joosten, L. Govaerts +15 more
2020Acta Obstetricia et Gynecologica Scandinavica42 citations Open access
Semantic Scholar
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Molly E. Kuo, A. Theil, A. Kievit, M. Malicdan +19 more
2019American Journal of Human Genetics42 citations Open access
Semantic Scholar
Efficient induction of minor histocompatibility antigen HA-1-specific cytotoxic T-cells using dendritic cells retrovirally transduced with HA-1-coding cDNA.
T. Mutis, K. Ghoreschi, E. Schrama, J. Kamp +4 more
2002Biology of Blood and Marrow Transplantation42 citations Open access
Semantic Scholar
Quantification of the HA-1 gene product at the RNA level; relevance for immunotherapy of hematological malignancies.
M. Wilke, H. Dolstra, F. Maas, J. Pool +8 more
2003The Hematology Journal41 citations
Semantic Scholar
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
M. Chopra, Meriel E. Mcentagart, J. Clayton-Smith, K. Platzer +78 more
2021American Journal of Human Genetics33 citations Open access
Semantic Scholar
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Laura V. Vandervore, R. Schot, E. Kasteleijn, R. Oegema +28 more
2019Brain : a journal of neurology31 citations Open access
Semantic Scholar
Recipient cytokine genotypes for TNF-&agr; and IL-10 and the minor histocompatibility antigens HY and CD31 codon 125 are not associated with occurrence or severity of acute GVHD in unrelated cord blood transplantation: A retrospective analysis1
G. Kögler, P. Middleton, M. Wilke, V. Rocha +8 more
2002Transplantation31 citations
Semantic Scholar
Mucolipidosis type II and type III: a systematic review of 843 published cases
Emma J. Dogterom, M. Wagenmakers, M. Wilke, S. Demirdas +6 more
2021Genetics in Medicine30 citations Open access
Semantic Scholar
Rescue of Murine F508del CFTR Activity in Native Intestine by Low Temperature and Proteasome Inhibitors
M. Wilke, A. Bot, Huub Jorna, B. Scholte +1 more
2012PLoS ONE28 citations Open access
Semantic Scholar
Proteomic analysis of naphthalene-induced airway epithelial injury and repair in a cystic fibrosis mouse model.
I. Carvalho-Oliveira, N. Charro, J. Aarbiou, Ruvalic M. Buijs-Offerman +8 more
2009Journal of Proteome Research26 citations
Semantic Scholar
Spontaneous rescue from cystic fibrosis in a mouse model
Nikoletta Charizopoulou, M. Wilke, M. Dorsch, A. Bot +6 more
2006BMC Genetics25 citations Open access
Semantic Scholar
Osteopenia in Cftr-deltaF508 mice.
J. Paradis, M. Wilke, C. Haston
2010Journal of Cystic Fibrosis24 citations Open access
Semantic Scholar
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, A. Bouman, L. Briere, R. Hoogenboezem +34 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Exclusive TCRVbeta chain usage of ex vivo generated minor Histocompatibility antigen HA-1 specific cytotoxic T cells: implications for monitoring of immunotherapy of leukemia by TCRBV spectratyping.
R. Verdijk, T. Mutis, M. Wilke, J. Pool +3 more
2002The Hematology Journal21 citations
Semantic Scholar
Meiotic arrest occurs most frequently at metaphase and is often incomplete in azoospermic men.
A. Enguita-Marruedo, E. Sleddens-Linkels, M. Ooms, Vera de Geus +7 more
2019Fertility and Sterility18 citations Open access
Semantic Scholar
Stimulation of salivary secretion in vivo by CFTR potentiators in Cftr+/+ and Cftr-/- mice.
Sabrina Noël, Pierre-Olivier Strale, L. Dannhoffer, M. Wilke +4 more
2008Journal of Cystic Fibrosis18 citations Open access
Semantic Scholar
Complementation of the genetic defect in Gunn rat hepatocytes in vitro by highly efficient gene transfer with cationic liposomes
M. Wilke, A. Bijma, A. J. Timmers-Reker, B. Scholte +1 more
1997Gene Therapy18 citations
Semantic Scholar
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
J. Fasham, A. Huebner, L. Liebmann, R. Khalaf-Nazzal +26 more
2023Brain : a journal of neurology15 citations Open access
Semantic Scholar
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Laura V. Vandervore, R. Schot, A. Hoogeboom, C. Lincke +9 more
2018European Journal of Medical Genetics15 citations Open access
Semantic Scholar
Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183)
M. Mulder, M. Wilke, A. Langeveld, L. Wilming +8 more
1995Human Genetics15 citations Open access
Semantic Scholar
Escherichia coli-nitroreductase suicide gene control of human telomerase reverse transcriptase-transduced minor histocompatibility antigen-specific cytotoxic T cells
R. Verdijk, M. Wilke, V. Beslier, A. Kloosterman +3 more
2004Bone Marrow Transplantation13 citations
Semantic Scholar
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, A. Laquérriere, F. Marguet, S. J. Myers +25 more
2022Journal of Medical Genetics12 citations Open access
Semantic Scholar
Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
K. MacKenzie, B. de Graaf, A. Syrimis, Yuying Zhao +19 more
2020Human Mutation11 citations Open access
Semantic Scholar
Cellular and animal models of cystic fibrosis, tools for drug discovery
B. Scholte, W. Colledge, M. Wilke, H. D. de Jonge
200611 citations
Semantic Scholar
Allele specific PCR for the minor Histocompatibility antigen HA-2.
M. Wilke, J. Pool, E. Goulmy
2002Tissue Antigens10 citations
Semantic Scholar
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.
M. Bongaerts, R. Bonte, S. Demirdas, H. Huidekoper +6 more
2022Molecular Genetics and Metabolism9 citations Open access
Semantic Scholar
Expression of Intestinal and Lung Alkaline Sphingomyelinase and Neutral Ceramidase in Cystic Fibrosis F508del Transgenic Mice
L. Ohlsson, L. Hjelte, M. Huhn, B. Scholte +3 more
2008Journal of Pediatric Gastroenterology and Nutrition - JPGN9 citations Open access
Semantic Scholar
Selective expression of an amiloride-inhibitable Na+ conductance from mRNA of respiratory epithelium in Xenopus laevis oocytes.
B. Kroll, W. Bautsch, S. Bremer, M. Wilke +2 more
1989American Journal of Physiology9 citations
Semantic Scholar
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
A. Ragamin, C. Gomes, K. Bindels-de Heus, R. Sandoval +15 more
2021Journal of Medical Genetics8 citations Open access
Semantic Scholar
Very mild disease phenotype of congenic CftrTgH(neoim)Hgu cystic fibrosis mice
B. Tóth, M. Wilke, F. Stanke, M. Dorsch +10 more
2008BMC Genetics6 citations Open access
Semantic Scholar
Minor Histocompatibility antigens.
E. Goulmy, M. Wilke
20026 citations
Semantic Scholar
RECIPIENT CYTOKINE GENOTYPES FOR TNF- AND IL-10 AND THE MINOR HISTOCOMPATIBILITY ANTIGENS HY AND CD31 CODON 125 ARE NOT ASSOCIATED WITH OCCURRENCE OR SEVERITY OF ACUTE GVHD IN UNRELATED CORD BLOOD TRANSPLANTATION
Gesine K??gler, P. Middleton, M. Wilke, V. Rocha +8 more
20025 citations
Semantic Scholar
Gene transfer into hepatocytes in vivo
M. Wilke, A. J. Timmers-Reker, A. Bijma, B. Scholte +1 more
19965 citations
Semantic Scholar
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
G. Mancini, Daphne J. Smits, Jordy Dekker, R. Schot +9 more
2021European journal of paediatric neurology4 citations Open access
Semantic Scholar
Cytokine gene polymorphism of the recipient influences the development of acute GvHD in HLA mismatched cord blood transplants
G. Kögler, M. Wilke, P. Middleton, B. Esendam +4 more
19994 citations
Semantic Scholar

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