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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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ANKRD11 variants : KBG syndrome and beyondIn: Clinical Genetics, Jg. 100, 2021, Nr. 2, S. 187 – 200DOI (Open Access)
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Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesIn: Clinical Genetics, Jg. 96, 2019, Nr. 3, S. 246 – 253
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Genetics of intellectual disability in consanguineous familiesIn: Molecular Psychiatry, Jg. 24, 2019, Nr. 7, S. 1027 – 1039DOI (Open Access)
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UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive TumorsIn: Cell, Jg. 176, 2019, Nr. 3, S. 505 – 519.e22DOI (Open Access)
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)In: Human Genetics, Jg. 137, 2018, Nr. 9, S. 753 – 768DOI, Online Volltext (Open Access)
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Molecular and clinical studies in 8 patients with Temple syndromeIn: Clinical Genetics, Jg. 93, 2018, Nr. 6, S. 1179 – 1188DOI, Online Volltext (Open Access)
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeIn: The American Journal of Human Genetics, Jg. 102, 2018, Nr. 3, S. 468 – 479DOI, Online Volltext (Open Access)
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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsIn: American Journal of Medical Genetics, Part A, Jg. 173, 2017, Nr. 2, S. 435 – 443
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Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophyIn: Brain: A Journal of Neurology, Jg. 140, 2017, Nr. 9, S. 2322 – 2336DOI (Open Access)
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismIn: Human Genetics, Jg. 136, 2017, Nr. 2, S. 179 – 192DOI, Online Volltext (Open Access)
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeIn: European Journal of Human Genetics, Jg. 25, 2017, Nr. 8, S. 935 – 945
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype” : result of placental trisomy 6 mosaicism?In: Molecular Genetics & Genomic Medicine, Jg. 5, 2017, Nr. 6, S. 668 – 677DOI (Open Access)
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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyIn: The American Journal of Human Genetics, Jg. 99, 2016, Nr. 5, S. 1181 – 1189DOI, Online Volltext (Open Access)
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndromeIn: Journal of Medical Genetics (eJMG), Jg. 53, 2016, Nr. 3, S. 152 – 162DOI (Open Access)
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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?In: American Journal of Medical Genetics, Part A, Jg. 170, 2016, Nr. 1, S. 94 – 102
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Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 casesIn: European Journal of Human Genetics, Jg. 23, 2015, Nr. 3, S. 292 – 301DOI (Open Access)
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrumIn: Human Genetics, Jg. 134, 2015, Nr. 1, S. 97 – 109
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementIn: Annals of Clinical and Translational Neurology, Jg. 2, 2015, Nr. 5, S. 492 – 509DOI (Open Access)
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesIn: Human Genetics, Jg. 134, 2015, Nr. 6, S. 553 – 568
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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndromeIn: Clinical Dysmorphology, Jg. 23, 2014, Nr. 2, S. 67 – 70
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Expanding the phenotype of IQSEC2 mutations : Truncating mutations in severe intellectual disabilityIn: European Journal of Human Genetics, Jg. 22, 2014, Nr. 2, S. 289 – 292
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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin typeIn: The American Journal of Human Genetics, Jg. 95, 2014, Nr. 6, S. 649 – 659DOI (Open Access)
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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodelingIn: Human Molecular Genetics, Jg. 22, 2013, Nr. 25, S. 5121 – 5135
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeIn: Human Genetics, Jg. 132, 2013, Nr. 8, S. 885 – 898
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Extending the KCNQ2 encephalopathy spectrum : Clinical and neuroimaging findings in 17 patientsIn: Neurology, Jg. 81, 2013, Nr. 19, S. 1697 – 1703
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Human Ring Chromosomes – New Insights for their Clinical SignificanceIn: Balkan Journal of Medical Genetics, Jg. 16, 2013, Nr. 1, S. 13 – 20
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutationsIn: Orphanet Journal of Rare Diseases, Jg. 8, 2013, Nr. 1, S. 110DOI (Open Access)
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The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAPIn: Orphanet Journal of Rare Diseases, Jg. 8, 2013, S. 63
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesIn: Nature Genetics, Jg. 44, 2012, Nr. 8, S. 934 – 940
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Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.In: Clinical Genetics, Jg. 81, 2012, Nr. 3, S. 298 – 300
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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC geneIn: Clinical Genetics, Jg. 82, 2012, Nr. 2, S. 140 – 146
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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeIn: The American Journal of Human Genetics, Jg. 90, 2012, Nr. 2, S. 308 – 313DOI, Online Volltext (Open Access)
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Nablus mask-like facial syndrome : deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeIn: American Journal of Medical Genetics, Part A, Jg. 158, 2012, Nr. 9, S. 2091 – 2099
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability : An exome sequencing studyIn: Lancet, Jg. 380, 2012, Nr. 9854, S. 1674 – 1682
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Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved n-terminal BRCT domain of microcephalinIn: Molecular Syndromology, Jg. 3, 2012, Nr. 1, S. 6 – 13
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A mutation screen in patients with Kabuki syndromeIn: Human Genetics, Jg. 130, 2011, Nr. 6, S. 715 – 724
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Cohen syndrome diagnosis using whole genome arraysIn: Journal of Medical Genetics (eJMG), Jg. 48, 2011, Nr. 2, S. 136 – 140
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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1In: BMC Medical Genetics, Jg. 12, 2011, S. 106DOI, Online Volltext (Open Access)
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Monozygotic twins discordant for trisomy 18In: Ultrasound in Obstetrics and Gynecology, Jg. 38, 2011, Nr. 6, S. 727 – 728DOI (Open Access)
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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD IIn: Science, Jg. 332, 2011, Nr. 6026, S. 238 – 240
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsIn: Human Mutation, Jg. 32, 2011, Nr. 4, S. 445 – 455
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Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorderIn: European Journal of Pharmacology, Jg. 660, 2011, Nr. 1, S. 165 – 170
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistanceIn: European Journal of Human Genetics, Jg. 18, 2010, Nr. 6, S. 656 – 661
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Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar SyndromeIn: The American Journal of Human Genetics, Jg. 86, 2010, Nr. 2, S. 254 – 261
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MACS syndrome : A combined collagen and elastin disorder due to abnormal Golgi trafficking : Letter to the editorIn: American Journal of Medical Genetics, Part A, Jg. 152, 2010, Nr. 11, S. 2916 – 2918
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Prader-Willi-Syndrom und Angelman-SyndromIn: Medizinische Genetik, Jg. 22, 2010, Nr. 4, S. 392 – 398
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Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndromeIn: American Journal of Medical Genetics, Part A, Jg. 152, 2010, Nr. 1, S. 181 – 184
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CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)In: European Journal of Medical Genetics (EJMG), Jg. 48, 2005, Nr. 2, S. 153 – 158
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UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors
Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Medizinische Onkologie, 11. - 14. Oktober 2019, Berlin, Germany,In: Oncology Research and Treatment. Basel: Karger, Jg. 42, 2019, Nr. Supplement 4: Abstracts, S. 25 – 26DOI (Open Access) -
Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
54th European Society of Human Genetics (ESHG) Conference, August 28-31, 2021, Virtual,In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 30, 2022, Nr. Suppl. 1, S. 355 – 356Online Volltext (Open Access)