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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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FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational FamilyIn: Genes Jg. 14 (2023) Nr. 3,Online Volltext: dx.doi.org/ (Open Access)
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Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic ComponentIn: Cancers Jg. 14 (2022) Nr. 24, 6244Online Volltext: dx.doi.org/ (Open Access)
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ANKRD11 variants : KBG syndrome and beyondIn: Clinical Genetics Jg. 100 (2021) Nr. 2, S. 187 - 200Online Volltext: dx.doi.org/ (Open Access)
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Biallelic variants in YRDC cause a developmental disorder with progeroid featuresIn: Human Genetics Jg. 140 (2021) Nr. 12, S. 1679 - 1693Online Volltext: dx.doi.org/ (Open Access)
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Defining the phenotypical spectrum associated with variants in TUBB2AIn: Journal of Medical Genetics (eJMG) Jg. 58 (2021) Nr. 1, S. 33 - 40Online Volltext: dx.doi.org/ (Open Access)
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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal studyIn: American Journal of Medical Genetics, Part A Jg. 185 (2021) Nr. 4, S. 1216 - 1221Online Volltext: dx.doi.org/ (Open Access)
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Mutations in PRDM15 are a novel cause of galloway-mowat syndromeIn: Journal of the American Society of Nephrology (JASN) Jg. 32 (2021) Nr. 3, S. 580 - 596Online Volltext: dx.doi.org/ (Open Access)
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Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injuryIn: Gut Jg. 69 (2020) Nr. 1, S. 133 - 145Online Volltext: dx.doi.org/ (Open Access)
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Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIn: American Journal of Medical Genetics, Part A Jg. 182 (2020) Nr. 5, S. 1021 - 1031Online Volltext: dx.doi.org/ (Open Access)
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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyIn: The American Journal of Human Genetics Jg. 105 (2019) Nr. 4, S. 869 - 878Online Volltext: dx.doi.org/ (Open Access)
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersIn: The American Journal of Human Genetics Jg. 104 (2019) Nr. 1, S. 139 - 156Online Volltext: dx.doi.org/ (Open Access)
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureIn: European Journal of Human Genetics Jg. 27 (2019) Nr. 7, S. 1061 - 1071Online Volltext: dx.doi.org/ (Open Access)
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Genetics of intellectual disability in consanguineous familiesIn: Molecular Psychiatry Jg. 24 (2019) Nr. 7, S. 1027 - 1039Online Volltext: dx.doi.org/ (Open Access)
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Genome-wide analysis of the nucleosome landscape in individuals with coffin-siris syndromeIn: Cytogenetics and Cell Genetics Jg. 159 (2019) S. 1 - 11Online Volltext: dx.doi.org/ (Open Access)
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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesIn: Kidney International (2019)Online Volltext: dx.doi.org/ Online Volltext (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.e22Online Volltext: dx.doi.org/ (Open Access)
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Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy RescueIn: Cytogenetics and Cell Genetics Jg. 156 (2018) Nr. 1, S. 9 - 13Online Volltext: dx.doi.org/
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsIn: Brain: A Journal of Neurology Jg. 141 (2018) Nr. 8, S. 2299 - 2311Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureIn: Genetics in Medicine Jg. 20 (2018) Nr. 6, S. 630 - 638Online Volltext: dx.doi.org/ (Open Access)
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De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderIn: The American Journal of Human Genetics Jg. 102 (2018) Nr. 6, S. 1195 - 1203Online Volltext: dx.doi.org/ (Open Access)
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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesIn: Human Genetics Jg. 137 (2018) Nr. 5, S. 401 - 411Online Volltext: dx.doi.org/
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Distinctive facial features in idiopathic Moyamoya disease in Caucasians : A first systematic analysisIn: PeerJ Jg. 2018 (2018) Nr. 6, e4740Online Volltext: dx.doi.org/ (Open Access)
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortIn: Human Mutation Jg. 39 (2018) Nr. 9, S. 1246 - 1261Online Volltext: dx.doi.org/ (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 - 768Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Isolated PREPL deficiency associated with congenital myasthenic syndrome-22In: Klinische Pädiatrie Jg. 230 (2018) Nr. 5, S. 281 - 283Online Volltext: dx.doi.org/
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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 - 479Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryIn: Human Mutation Jg. 39 (2018) Nr. 8, S. 1126 - 1138Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantIn: Annals of Neurology Jg. 83 (2018) Nr. 5, S. 926 - 934Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable conditionIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 2, S. 183 - 191Online Volltext: dx.doi.org/ (Open Access)
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Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndromeIn: Epilepsy and Behavior Jg. 69 (2017) S. 104 - 109Online Volltext: dx.doi.org/
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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 - 443Online Volltext: dx.doi.org/
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Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disordersIn: JAMA Psychiatry Jg. 74 (2017) Nr. 3, S. 293 - 299Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2In: Epilepsia Jg. 58 (2017) Nr. Suppl. 5, S. S65Online Volltext: dx.doi.org/
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureIn: Scientific Reports Jg. 7 (2017) S. 12225Online Volltext: dx.doi.org/ (Open Access)
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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotypeIn: Human Genetics Jg. 136 (2017) Nr. 3, S. 297 - 305Online Volltext: dx.doi.org/
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityIn: Human Genetics Jg. 136 (2017) Nr. 7, S. 821 - 834Online Volltext: dx.doi.org/
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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 - 192Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIn: Human Genetics Jg. 136 (2017) Nr. 3, S. 307 - 320Online Volltext: dx.doi.org/
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaIn: Nature Genetics Jg. 49 (2017) Nr. 2, S. 223 - 237Online Volltext: dx.doi.org/ 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 - 945Online Volltext: dx.doi.org/
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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 7, S. 889 - 893Online Volltext: dx.doi.org/
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A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutationIn: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics Jg. 170 (2016) Nr. 3, S. 728 - 733Online Volltext: dx.doi.org/
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ASPP2 deficiency causes features of 1q41q42 microdeletion syndromeIn: Cell Death and Differentiation Jg. 23 (2016) Nr. 12, S. 1973 - 1984Online Volltext: dx.doi.org/
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Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutationsIn: Muscle & Nerve Jg. 54 (2016) Nr. 3, S. 496 - 500Online Volltext: dx.doi.org/
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeIn: The American Journal of Human Genetics Jg. 99 (2016) S. 711 - 719Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowthIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1739 - 1745Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Expanding the clinical spectrum of the 'HDAC8-phenotype' : Implications for molecular diagnostics, counseling and risk predictionIn: Clinical Genetics Jg. 89 (2016) Nr. 5, S. 564 - 573Online Volltext: dx.doi.org/
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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie SyndromeIn: PLoS ONE Jg. 11 (2016) Nr. 4, S. e0153757Online Volltext: dx.doi.org/ (Open Access)
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Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environmentIn: Epigenetics Jg. 11 (2016) Nr. 3, S. 216 - 226Online Volltext: dx.doi.org/ (Open Access)
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Loss-of-function variants in HIVEP2 are a cause of intellectual disabilityIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 4, S. 556 - 561Online Volltext: dx.doi.org/ (Open Access)
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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1724 - 1729Online Volltext: dx.doi.org/
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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 - 102Online Volltext: dx.doi.org/
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X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boyIn: Clinical Dysmorphology Jg. 25 (2016) Nr. 2, S. 73 - 76Online Volltext: dx.doi.org/
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3p14 deletion is a rare contiguous gene syndrome : Report of 2 new patients and an overview of 14 patientsIn: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 6, S. 1223 - 1230Online Volltext: dx.doi.org/
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A review of craniofacial disorders caused by spliceosomal defectsIn: Clinical Genetics Jg. 88 (2015) Nr. 5, S. 405 - 415Online Volltext: dx.doi.org/
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionIn: The American Journal of Human Genetics Jg. 96 (2015) Nr. 5, S. 765 - 774Online Volltext: dx.doi.org/ (Open Access)
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De novo mutations in CHAMP1 cause intellectual disability with severe speech impairmentIn: American journal of human genetics Jg. 97 (2015) Nr. 3, S. 493 - 500Online Volltext: dx.doi.org/ (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
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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 - 509Online Volltext: dx.doi.org/ (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 - 568Online Volltext: dx.doi.org/
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Further delineation of the KAT6B molecular and phenotypic spectrumIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 9, S. 1165 - 1170Online Volltext: dx.doi.org/ (Open Access)
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Infectious and immunologic phenotype of MECP2 duplication syndromeIn: Journal of Clinical Immunology Jg. 35 (2015) Nr. 2, S. 168 - 181Online Volltext: dx.doi.org/
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 6, S. 753 - 760Online Volltext: dx.doi.org/ (Open Access)
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeIn: The Journal of Clinical Investigation (JCI) Jg. 125 (2015) Nr. 9, S. 3585 - 3599Online Volltext: dx.doi.org/ (Open Access)
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Reconstruction of images from Gabor graphs with applications in facial image processingIn: International Journal of Wavelets, Multiresolution and Information Processing Jg. 13 (2015) Nr. 4, S. 1550019Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Splitting versus lumping : Temple–Baraitser and Zimmermann–Laband syndromesIn: Human genetics Jg. 134 (2015) Nr. 10, S. 1089 - 1097Online Volltext: dx.doi.org/
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WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney diseaseIn: Human mutation Jg. 36 (2015) Nr. 11, S. 1021 - 1028Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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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 - 70Online Volltext: dx.doi.org/
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeIn: Genetics in Medicine Jg. 16 (2014) Nr. 9, S. 720 - 724Online Volltext: dx.doi.org/
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Classification and visualization based on derived image features : application to genetic syndromesIn: PLoS ONE Jg. 9 (2014) Nr. 11, S. e109033Online Volltext: dx.doi.org/ (Open Access)
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics Jg. 95 (2014) Nr. 6, S. 698 - 707Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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DOORS syndrome : phenotype, genotype and comparison with coffin-siris syndromeIn: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 166 (2014) Nr. 3, S. 327 - 332Online Volltext: dx.doi.org/
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeIn: Nature Genetics Jg. 46 (2014) Nr. 5, S. 510 - 515Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeIn: European Journal of Human Genetics Jg. 22 (2014) Nr. 6, S. 762 - 767Online Volltext: dx.doi.org/
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Diagnostic approach to microcephaly in childhood: A two-center study and review of the literatureIn: Developmental Medicine and Child Neurology Jg. 56 (2014) Nr. 8, S. 732 - 741Online Volltext: dx.doi.org/
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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 - 292Online Volltext: dx.doi.org/
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Extreme Growth Failure is a Common Presentation of Ligase IV DeficiencyIn: Human Mutation Jg. 35 (2014) Nr. 1, S. 76 - 85Online Volltext: dx.doi.org/ (Open Access)
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Females with de novo aberrations in PHF6 : clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndromeIn: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 166 (2014) Nr. 3, S. 290 - 301Online Volltext: dx.doi.org/
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Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndromeIn: American journal of human genetics Jg. 95 (2014) Nr. 6, S. 763 - 770Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Homozygous truncating PTPRF mutation causes atheliaIn: Human Genetics Jg. 133 (2014) Nr. 8, S. 1041 - 1047Online Volltext: dx.doi.org/
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) : Review of phenotype associated with KIF11 mutationsIn: European Journal of Human Genetics Jg. 22 (2014) Nr. 7, S. 881 - 887Online Volltext: dx.doi.org/
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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis PathwayIn: The American Journal of Human Genetics Jg. 95 (2014) Nr. 3, S. 285 - 293Online Volltext: dx.doi.org/ (Open Access)
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The genetic basis of DOORS syndrome : An exome-sequencing studyIn: The Lancet Neurology Jg. 13 (2014) Nr. 1, S. 44 - 58Online Volltext: dx.doi.org/ (Open Access)
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160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndromeIn: European Journal of Medical Genetics (EJMG) Jg. 56 (2013) Nr. 12, S. 689 - 694Online Volltext: dx.doi.org/
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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 - 5135Online Volltext: dx.doi.org/
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A new face of Borjeson-Forssman-Lehmann syndrome? : De novo mutations in PHF6 in seven females with a distinct phenotypeIn: Journal of Medical Genetics (eJMG) Jg. 50 (2013) Nr. 12, S. 838 - 847Online Volltext: dx.doi.org/
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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B geneIn: Behavioral and Brain Functions Jg. 9 (2013) Nr. 1, S. 20Online Volltext: dx.doi.org/ (Open Access)
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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 - 898Online Volltext: dx.doi.org/
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Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile paget's diseaseIn: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 98 (2013) Nr. 8, S. 3121 - 3126Online Volltext: dx.doi.org/
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Human facial dysostosesIn: Clinical Genetics Jg. 83 (2013) Nr. 6, S. 499 - 510Online Volltext: dx.doi.org/
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Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulationIn: EMBO Molecular Medicine Jg. 5 (2013) Nr. 9, S. 1431 - 1442Online Volltext: dx.doi.org/ (Open Access)
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome : a study of the extensive clinical variabilityIn: Human mutation: variation, databases, and disease Jg. 34 (2013) Nr. 1, S. 237 - 247Online Volltext: dx.doi.org/
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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. 110Online Volltext: dx.doi.org/ (Open Access)
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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12In: European Journal of Human Genetics Jg. 21 (2013) Nr. 12, S. 1349 - 1355Online Volltext: dx.doi.org/
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Rare Copy Number Variants Are a Common Cause of Short StatureIn: PLoS Genetics Jg. 9 (2013) Nr. 3, S. e1003365Online Volltext: dx.doi.org/ (Open Access)
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Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 2, S. 295 - 300Online Volltext: dx.doi.org/
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 146Online Volltext: dx.doi.org/ (Open Access)
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6In: American Journal of Human Genetics Jg. 93 (2013) Nr. 2, S. 336 - 345Online Volltext: dx.doi.org/
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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.In: Molecular Syndromology Jg. 3 (2012) Nr. 5, S. 223 - 229Online Volltext: dx.doi.org/
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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityIn: American Journal of Human Genetics Jg. 91 (2012) Nr. 4, S. 694 - 702Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksIn: American Journal of Medical Genetics, Part A Jg. 158 A (2012) Nr. 12, S. 3148 - 3158Online Volltext: dx.doi.org/
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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeIn: Molecular Syndromology Jg. 2 (2012) Nr. 2, S. 53 - 59Online Volltext: dx.doi.org/
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disabilityIn: The American Journal of Human Genetics Jg. 90 (2012) Nr. 3, S. 565 - 572Online Volltext: dx.doi.org/
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyIn: The American Journal of Human Genetics Jg. 90 (2012) Nr. 2, S. 369 - 377Online Volltext: dx.doi.org/ (Open Access)
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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeIn: Nature Genetics Jg. 44 (2012) Nr. 4, S. 445 - 449Online Volltext: dx.doi.org/
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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 - 146Online Volltext: dx.doi.org/
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Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHIn: Human Molecular Genetics Jg. 21 (2012) Nr. 18, S. 3969 - 3983Online Volltext: dx.doi.org/ (Open Access)
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Mutations in NSUN2 cause autosomal- Recessive intellectual disabilityIn: American Journal of Human Genetics Jg. 90 (2012) Nr. 5, S. 847 - 855Online Volltext: dx.doi.org/
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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeIn: American Journal of Human Genetics, The (AJHG) Jg. 90 (2012) Nr. 2, S. 308 - 313Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability : An exome sequencing studyIn: The Lancet Jg. 380 (2012) Nr. 9854, S. 1674 - 1682Online Volltext: dx.doi.org/
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Treacher Collins syndrome : clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literatureIn: European Journal of Pediatrics Jg. 171 (2012) Nr. 11, S. 1611 - 1618Online Volltext: dx.doi.org/
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A mutation screen in patients with Kabuki syndromeIn: Human Genetics Jg. 130 (2011) Nr. 6, S. 715 - 724Online Volltext: dx.doi.org/
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Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient PatientIn: PLoS ONE Jg. 6 (2011) Nr. 9,Online Volltext: dx.doi.org/ (Open Access)
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Automated syndrome detection in a set of clinical facial photographsIn: American Journal of Medical Genetics, Part A Jg. 155 (2011) Nr. 9, S. 2161 - 2169Online Volltext: dx.doi.org/
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Autosomal recessive mental retardation : Homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspotsIn: Human Genetics Jg. 129 (2011) Nr. 2, S. 141 - 148Online Volltext: dx.doi.org/
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Bohring-Opitz (Oberklaid-Danks) syndrome : Clinical study, review of the literature, and discussion of possible pathogenesisIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 5, S. 513 - 519Online Volltext: dx.doi.org/
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CEP152 is a genome maintenance protein disrupted in Seckel syndromeIn: Nature Genetics Jg. 43 (2011) Nr. 1, S. 23 - 26Online Volltext: dx.doi.org/
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Cohen syndrome diagnosis using whole genome arraysIn: Journal of Medical Genetics (eJMG) Jg. 48 (2011) Nr. 2, S. 136 - 140Online Volltext: dx.doi.org/
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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardationIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 5, S. 507 - 512Online Volltext: dx.doi.org/
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeIn: Nature Genetics Jg. 43 (2011) Nr. 8, S. 729 - 731Online Volltext: dx.doi.org/
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Deep sequencing reveals 50 novel genes for recessive cognitive disordersIn: Nature Jg. 478 (2011) Nr. 7367, S. 57 - 63Online Volltext: dx.doi.org/
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3In: American Journal of Medical Genetics, Part A Jg. 155 (2011) Nr. 8, S. 1857 - 1864Online Volltext: dx.doi.org/
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Genetic determination of human facial morphology : Links between cleft-lips and normal variationIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 11, S. 1192 - 1197Online Volltext: dx.doi.org/
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Hallermann-Streiff Syndrome : No Evidence for a Link to LaminopathiesIn: Molecular Syndromology Jg. 2 (2011) Nr. 1, S. 27 - 34Online Volltext: dx.doi.org/
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Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceIn: PLoS Genetics Jg. 7 (2011) Nr. 7, S. 1002114Online Volltext: dx.doi.org/ (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 - 240Online Volltext: dx.doi.org/
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeIn: Nature Genetics Jg. 43 (2011) Nr. 1, S. 20 - 22Online Volltext: dx.doi.org/
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Parental origin and functional relevance of a de novo UBE3A variantIn: European Journal of Medical Genetics (EJMG) Jg. 54 (2011) Nr. 1, S. 19 - 24Online Volltext: dx.doi.org/
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Syndrome mit dem Leitsymptom GroßwuchsIn: Medizinische Genetik Jg. 23 (2011) Nr. 4, S. 505 - 517Online Volltext: dx.doi.org/
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesisIn: Journal of Medical Genetics (eJMG) Jg. 48 (2011) Nr. 6, S. 396 - 406Online Volltext: dx.doi.org/
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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner Mesomelic Syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumbIn: Human Mutation Jg. 31 (2010) Nr. 1, S. 81 - 89Online Volltext: dx.doi.org/
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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndromeIn: Arthritis & Rheumatism Jg. 62 (2010) Nr. 5, S. 1469 - 1477Online Volltext: dx.doi.org/
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FOXL2 copy number changes in the molecular pathogenesis of BPES : uniquecCohort of 17 deletionsIn: Human Mutation Jg. 31 (2010) Nr. 5, S. E1332 - E1347Online Volltext: dx.doi.org/ (Open Access)
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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 5, S. 1213 - 1224Online Volltext: dx.doi.org/
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Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activationIn: Human Mutation Jg. 31 (2010) Nr. 3, S. 284 - 294Online Volltext: dx.doi.org/
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesIn: Nature Genetics Jg. 42 (2010) Nr. 11, S. 1021 - 1026Online Volltext: dx.doi.org/
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Mutations in ZIC2 in human holoprosencephaly: Description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsIn: Journal of Medical Genetics (eJMG) Jg. 47 (2010) Nr. 8, S. 513 - 524Online Volltext: dx.doi.org/
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The face of Noonan syndrome : Does phenotype predict genotypeIn: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 8, S. 1960 - 1966Online Volltext: dx.doi.org/
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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 - 184Online Volltext: dx.doi.org/
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Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasiaIn: Journal of Medical Genetics (eJMG) Jg. 45 (2008) Nr. 11, S. 731 - 737Online Volltext: dx.doi.org/
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Left-ventricular non-compaction (LVNC) : a clinical feature more often observed in terminal deletion 1p36 than previously expectedIn: European Journal of Medical Genetics (EJMG) Jg. 51 (2008) Nr. 6, S. 685 - 688Online Volltext: dx.doi.org/
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Microlissencephaly in microcephalic osteodysplastic primordial dwarfism : a case report and review of the literatureIn: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 309 - 313Online Volltext: dx.doi.org/
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Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndromeIn: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 355 - 356
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De novo mutations of MYT1L in individuals with intellectual disabilityIn: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 350Online Volltext: dx.doi.org/ (Open Access)
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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 380 - 381Online Volltext: dx.doi.org/ (Open Access)
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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 Jg. 42 (2019) Nr. Supplement 4: Abstracts, S. 25 - 26Online Volltext: dx.doi.org/ (Open Access) -
A new mandibulofacial dysostosis syndrome caused by a mutation of POLR1A
35th Annual David W Smith Workshop on Malformations and Morphogenesis, 25–30 July 2014, Madison, Wisconsin,In: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 8, S. 1727 - 1728Online Volltext: dx.doi.org/ -
Tricho-rhino-phalangeal syndrome in girl with chronic renal failure and severe growth deficiency
15th Congress of the International Pediatric Nephrology Association ; 29 August – 2 September, 2010, New York, NY, USA,In: Pediatric Nephrology Jg. 25 (2010) Nr. 9, S. 1919Online Volltext: dx.doi.org/