Janine Altmüller Cologne Center for Genomics (CCG) University of Cologne Biography Publications Institution JoVE Articles Janine Altmüller has not added a biography. If you are Janine Altmüller and would like to personalize this page please email our Author Liaison for assistance. Publications A New CUL4B Variant Associated with a Mild Phenotype and an Exceptional Pattern of Leukoencephalopathy American Journal of Medical Genetics. Part A. Aug, 2017 | Pubmed ID: 28817236 Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial JAMA Oncology. Jul, 2017 | Pubmed ID: 28715532 The Role of De Novo Mutations in the Development of Amyotrophic Lateral Sclerosis Human Mutation. Jul, 2017 | Pubmed ID: 28714244 Antagonistic Modulation of NPY/AgRP and POMC Neurons in the Arcuate Nucleus by Noradrenalin ELife. Jun, 2017 | Pubmed ID: 28632132 Association of a Synonymous SCN1B Variant Affecting Splicing Efficiency with Benign Familial Infantile Epilepsy (BFIE) European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Sep, 2017 | Pubmed ID: 28566192 A Deep Intronic CLRN1 (USH3A) Founder Mutation Generates an Aberrant Exon and Underlies Severe Usher Syndrome on the Arabian Peninsula Scientific Reports. May, 2017 | Pubmed ID: 28469144 Hypomorphic Mutations in POLR3A Are a Frequent Cause of Sporadic and Recessive Spastic Ataxia Brain : a Journal of Neurology. Jun, 2017 | Pubmed ID: 28459997 Heterozygous HNRNPU Variants Cause Early Onset Epilepsy and Severe Intellectual Disability Human Genetics. Jul, 2017 | Pubmed ID: 28393272 Copy Number Increases of Transposable Elements and Protein-coding Genes in an Invasive Fish of Hybrid Origin Molecular Ecology. Apr, 2017 | Pubmed ID: 28390096 Mutational Profiling in the Peripheral Blood Leukocytes of Patients with Systemic Mast Cell Activation Syndrome Using Next-generation Sequencing Immunogenetics. Jun, 2017 | Pubmed ID: 28386644 Metatarsal Bony Syndactyly in 2 Fetuses with Smith-Lemli-Opitz Syndrome: An Under-recognized Part of the Clinical Spectrum Clinical Genetics. Mar, 2017 | Pubmed ID: 28369852 Confirmation of CAGSSS Syndrome As a Distinct Entity in a Danish Patient with a Novel Homozygous Mutation in IARS2 American Journal of Medical Genetics. Part A. Apr, 2017 | Pubmed ID: 28328135 Mutations in γ-secretase Subunit-encoding PSENEN Underlie Dowling-Degos Disease Associated with Acne Inversa The Journal of Clinical Investigation. Apr, 2017 | Pubmed ID: 28287404 Activation of Odorant Receptor in Colorectal Cancer Cells Leads to Inhibition of Cell Proliferation and Apoptosis PloS One. 2017 | Pubmed ID: 28273117 Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism Nature Genetics. Apr, 2017 | Pubmed ID: 28191891 De Novo Mutations in SMCHD1 Cause Bosma Arhinia Microphthalmia Syndrome and Abrogate Nasal Development Nature Genetics. Feb, 2017 | Pubmed ID: 28067911 CDK5RAP2 Interaction with Components of the Hippo Signaling Pathway May Play a Role in Primary Microcephaly Molecular Genetics and Genomics : MGG. Apr, 2017 | Pubmed ID: 28004182 Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G>A P.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism American Journal of Medical Genetics. Part A. Jan, 2017 | Pubmed ID: 27753196 The RAD51C Exonic Splice-site Mutations C.404G>C and C.404G>T Are Associated with Familial Breast and Ovarian Cancer European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP). Mar, 2017 | Pubmed ID: 27622768 Two Olfactory Receptors-OR2A4/7 and OR51B5-differentially Affect Epidermal Proliferation and Differentiation Experimental Dermatology. Jan, 2017 | Pubmed ID: 27315375 Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer JAMA Oncology. Dec, 2016 | Pubmed ID: 28033443 Expression and Functionality of TRPV1 in Breast Cancer Cells Breast Cancer (Dove Medical Press). 2016 | Pubmed ID: 28008282 Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American Journal of Human Genetics. Dec, 2016 | Pubmed ID: 27866708 The Mutation P.E113K in the Schiff Base Counterion of Rhodopsin is Associated with Two Distinct Retinal Phenotypes Within the Same Family Scientific Reports. Nov, 2016 | Pubmed ID: 27812022 Genomic Resources for Wild Populations of the House Mouse, Mus Musculus and Its Close Relative Mus Spretus Scientific Data. Sep, 2016 | Pubmed ID: 27622383 Characterization of Non-olfactory GPCRs in Human Sperm with a Focus on GPR18 Scientific Reports. Aug, 2016 | Pubmed ID: 27572937 An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity American Journal of Medical Genetics. Part A. Dec, 2016 | Pubmed ID: 27530281 Cover Image, Volume 170A, Number 9, September 2016 American Journal of Medical Genetics. Part A. Sep, 2016 | Pubmed ID: 27518918 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations As a Recessive Subtype of Colorectal Adenomatous Polyposis American Journal of Human Genetics. Aug, 2016 | Pubmed ID: 27476653 A Large Deletion in RPGR Causes XLPRA in Weimaraner Dogs Canine Genetics and Epidemiology. 2016 | Pubmed ID: 27398221 The Activation of OR51E1 Causes Growth Suppression of Human Prostate Cancer Cells Oncotarget. Jul, 2016 | Pubmed ID: 27374083 A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival American Journal of Medical Genetics. Part A. Sep, 2016 | Pubmed ID: 27354339 The WOPR Protein Ros1 Is a Master Regulator of Sporogenesis and Late Effector Gene Expression in the Maize Pathogen Ustilago Maydis PLoS Pathogens. Jun, 2016 | Pubmed ID: 27332891 Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors Clinical Cancer Research : an Official Journal of the American Association for Cancer Research. Oct, 2016 | Pubmed ID: 27252416 Update on the ACTG1-associated Baraitser-Winter Cerebrofrontofacial Syndrome American Journal of Medical Genetics. Part A. Oct, 2016 | Pubmed ID: 27240540 Tumor Suppression in Basal Keratinocytes Via Dual Non-cell-autonomous Functions of a Na,K-ATPase Beta Subunit ELife. May, 2016 | Pubmed ID: 27240166 Complex Karyotypes and KRAS and POT1 Mutations Impact Outcome in CLL After Chlorambucil-based Chemotherapy or Chemoimmunotherapy Blood. Jul, 2016 | Pubmed ID: 27226433 Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations The New England Journal of Medicine. May, 2016 | Pubmed ID: 27120771 A Systematic Comparison of Two New Releases of Exome Sequencing Products: the Aim of Use Determines the Choice of Product Biological Chemistry. Aug, 2016 | Pubmed ID: 27021259 Neuropathological Signs of Inflammation Correlate with Mitochondrial DNA Deletions in Mesial Temporal Lobe Epilepsy Acta Neuropathologica. Aug, 2016 | Pubmed ID: 26993140 Mutations in EXOSC2 Are Associated with a Novel Syndrome Characterised by Retinitis Pigmentosa, Progressive Hearing Loss, Premature Ageing, Short Stature, Mild Intellectual Disability and Distinctive Gestalt Journal of Medical Genetics. Jun, 2016 | Pubmed ID: 26843489 Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum American Journal of Medical Genetics. Part A. May, 2016 | Pubmed ID: 26792575 Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing PloS One. 2016 | Pubmed ID: 26789268 Exome Sequencing Identifies Potential Novel Candidate Genes in Patients with Unexplained Colorectal Adenomatous Polyposis Familial Cancer. Apr, 2016 | Pubmed ID: 26780541 Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK As a Cause of Limb Defects in Humans and Mice Genome Research. Feb, 2016 | Pubmed ID: 26755636 Mutations in AP3D1 Associated with Immunodeficiency and Seizures Define a New Type of Hermansky-Pudlak Syndrome Blood. Feb, 2016 | Pubmed ID: 26744459 Three-layered Proteomic Characterization of a Novel ACTN4 Mutation Unravels Its Pathogenic Potential in FSGS Human Molecular Genetics. Mar, 2016 | Pubmed ID: 26740551 Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation Annals of Neurology. Mar, 2016 | Pubmed ID: 26677014 A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation American Journal of Medical Genetics. Part A. Mar, 2016 | Pubmed ID: 26640080 A Novel Homozygous Splicing Mutation of CASC5 Causes Primary Microcephaly in a Large Pakistani Family Human Genetics. Feb, 2016 | Pubmed ID: 26621532 TRAIP Promotes DNA Damage Response During Genome Replication and is Mutated in Primordial Dwarfism Nature Genetics. Jan, 2016 | Pubmed ID: 26595769 Characterization of the Olfactory Receptors Expressed in Human Spermatozoa Frontiers in Molecular Biosciences. 2015 | Pubmed ID: 26779489 Cold-aggravated Pain in Humans Caused by a Hyperactive NaV1.9 Channel Mutant Nature Communications. Dec, 2015 | Pubmed ID: 26645915 Telomerase Activation by Genomic Rearrangements in High-risk Neuroblastoma Nature. Oct, 2015 | Pubmed ID: 26466568 Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE Plant Physiology. Nov, 2015 | Pubmed ID: 26417007 Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex American Journal of Human Genetics. Oct, 2015 | Pubmed ID: 26387594 De Novo FUS Mutations Are the Most Frequent Genetic Cause in Early-onset German ALS Patients Neurobiology of Aging. Nov, 2015 | Pubmed ID: 26362943 Ectodysplasin Signalling Genes and Phenotypic Evolution in Sculpins (Cottus) Proceedings. Biological Sciences. Sep, 2015 | Pubmed ID: 26354934 Exome Sequencing Identifies a Novel Heterozygous TGFB3 Mutation in a Disorder Overlapping with Marfan and Loeys-Dietz Syndrome Molecular and Cellular Probes. Oct, 2015 | Pubmed ID: 26184463 Comprehensive Genomic Profiles of Small Cell Lung Cancer Nature. Aug, 2015 | Pubmed ID: 26168399 Identification of a Novel Mutation in RIPK4 in a Kindred with Phenotypic Features of Bartsocas-Papas and CHAND Syndromes American Journal of Medical Genetics. Part A. Nov, 2015 | Pubmed ID: 26129644 Mutational Dynamics Between Primary and Relapse Neuroblastomas Nature Genetics. Aug, 2015 | Pubmed ID: 26121086 Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer. Jul, 2015 | Pubmed ID: 26102443 RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors PloS One. 2015 | Pubmed ID: 26070209 Skeletal Dysplasia in a Consanguineous Clan from the Island of Nias/Indonesia is Caused by a Novel Mutation in B3GAT3 Human Genetics. Jul, 2015 | Pubmed ID: 25893793 Mutations in XRCC4 Cause Primary Microcephaly, Short Stature and Increased Genomic Instability Human Molecular Genetics. Jul, 2015 | Pubmed ID: 25839420 BRF1 Mutations Alter RNA Polymerase III-dependent Transcription and Cause Neurodevelopmental Anomalies Genome Research. Apr, 2015 | Pubmed ID: 25834187 Rare Variants in γ-aminobutyric Acid Type A Receptor Genes in Rolandic Epilepsy and Related Syndromes Annals of Neurology. Jun, 2015 | Pubmed ID: 25726841 Ion Transporter NKCC1, Modulator of Neurogenesis in Murine Olfactory Neurons The Journal of Biological Chemistry. Apr, 2015 | Pubmed ID: 25713142 Identification of Novel Fusion Genes in Lung Cancer Using Breakpoint Assembly of Transcriptome Sequencing Data Genome Biology. Jan, 2015 | Pubmed ID: 25650807 Non-manifesting AHI1 Truncations Indicate Localized Loss-of-function Tolerance in a Severe Mendelian Disease Gene Human Molecular Genetics. May, 2015 | Pubmed ID: 25616960 Deep Sequencing of the Murine Olfactory Receptor Neuron Transcriptome PloS One. 2015 | Pubmed ID: 25590618 BRF1 Mutations Alter RNA Polymerase III-dependent Transcription and Cause Neurodevelopmental Anomalies Genome Research. Feb, 2015 | Pubmed ID: 25561519 Frequency and Phenotypic Spectrum of Germline Mutations in POLE and Seven Other Polymerase Genes in 266 Patients with Colorectal Adenomas and Carcinomas International Journal of Cancer. Jul, 2015 | Pubmed ID: 25529843 Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura The Journal of Investigative Dermatology. Feb, 2015 | Pubmed ID: 25229252 Genome-wide CNV Analysis in 221 Unrelated Patients and Targeted High-throughput Sequencing Reveal Novel Causative Candidate Genes for Colorectal Adenomatous Polyposis International Journal of Cancer. Mar, 2015 | Pubmed ID: 25219767 STIL Mutation Causes Autosomal Recessive Microcephalic Lobar Holoprosencephaly Human Genetics. Jan, 2015 | Pubmed ID: 25218063 Homozygous and Compound-heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome American Journal of Human Genetics. Dec, 2014 | Pubmed ID: 25480037 Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome American Journal of Human Genetics. Nov, 2014 | Pubmed ID: 25439729 Mutations in PLK4, Encoding a Master Regulator of Centriole Biogenesis, Cause Microcephaly, Growth Failure and Retinopathy Nature Genetics. Dec, 2014 | Pubmed ID: 25344692 Mutations in SPRTN Cause Early Onset Hepatocellular Carcinoma, Genomic Instability and Progeroid Features Nature Genetics. Nov, 2014 | Pubmed ID: 25261934 Deciphering the Genetic Basis of Microcystin Tolerance BMC Genomics. Sep, 2014 | Pubmed ID: 25199885 Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy Human Mutation. Oct, 2014 | Pubmed ID: 25044745 Analysis of ELP4, SRPX2, and Interacting Genes in Typical and Atypical Rolandic Epilepsy Epilepsia. Aug, 2014 | Pubmed ID: 24995671 A Missense Mutation in the PISA Domain of HsSAS-6 Causes Autosomal Recessive Primary Microcephaly in a Large Consanguineous Pakistani Family Human Molecular Genetics. Nov, 2014 | Pubmed ID: 24951542 Frequent Mutations in Chromatin-remodelling Genes in Pulmonary Carcinoids Nature Communications. Mar, 2014 | Pubmed ID: 24670920 DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood Annals of Neurology. May, 2014 | Pubmed ID: 24591017 Exonic Microdeletions of the Gephyrin Gene Impair GABAergic Synaptic Inhibition in Patients with Idiopathic Generalized Epilepsy Neurobiology of Disease. Jul, 2014 | Pubmed ID: 24561070 CD74-NRG1 Fusions in Lung Adenocarcinoma Cancer Discovery. Apr, 2014 | Pubmed ID: 24469108 Mutations in POGLUT1, Encoding Protein O-glucosyltransferase 1, Cause Autosomal-dominant Dowling-Degos Disease American Journal of Human Genetics. Jan, 2014 | Pubmed ID: 24387993 Genome-wide Protein QTL Mapping Identifies Human Plasma Kallikrein As a Post-translational Regulator of Serum UPAR Levels FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Feb, 2014 | Pubmed ID: 24249636 Enrichment of Target Sequences for Next-generation Sequencing Applications in Research and Diagnostics Biological Chemistry. Feb, 2014 | Pubmed ID: 24013102 The Genome of Romanomermis Culicivorax: Revealing Fundamental Changes in the Core Developmental Genetic Toolkit in Nematoda BMC Genomics. Dec, 2013 | Pubmed ID: 24373391 Comprehensive RNA-Seq Expression Analysis of Sensory Ganglia with a Focus on Ion Channels and GPCRs in Trigeminal Ganglia PloS One. 2013 | Pubmed ID: 24260241 A Novel Large In-frame Deletion Within the CACNA1F Gene Associates with a Cone-rod Dystrophy 3-like Phenotype PloS One. 2013 | Pubmed ID: 24124559 Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes PLoS Computational Biology. 2013 | Pubmed ID: 24098097 Fine Mapping and Chromosome Walking Towards the Ror1 Locus in Barley (Hordeum Vulgare L.) TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik. Dec, 2013 | Pubmed ID: 24042571 SOX9 Duplication Linked to Intersex in Deer PloS One. 2013 | Pubmed ID: 24040047 RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy PloS One. 2013 | Pubmed ID: 24039908 A De Novo Gain-of-function Mutation in SCN11A Causes Loss of Pain Perception Nature Genetics. Nov, 2013 | Pubmed ID: 24036948 Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction American Journal of Human Genetics. Oct, 2013 | Pubmed ID: 24035193 Mutations in GRIN2A Cause Idiopathic Focal Epilepsy with Rolandic Spikes Nature Genetics. Sep, 2013 | Pubmed ID: 23933819 CDK6 Associates with the Centrosome During Mitosis and is Mutated in a Large Pakistani Family with Primary Microcephaly Human Molecular Genetics. Dec, 2013 | Pubmed ID: 23918663 A Comprehensive Molecular Study on Coffin-Siris and Nicolaides-Baraitser Syndromes Identifies a Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling Human Molecular Genetics. Dec, 2013 | Pubmed ID: 23906836 Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23830518 Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length The Journal of Investigative Dermatology. Sep, 2013 | Pubmed ID: 23549421 Recessive Mutations in DGKE Cause Atypical Hemolytic-uremic Syndrome Nature Genetics. May, 2013 | Pubmed ID: 23542698 Do Not Trust the Pedigree: Reduced and Sex-dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia Human Mutation. Jun, 2013 | Pubmed ID: 23483706 Inhibition of TFG Function Causes Hereditary Axon Degeneration by Impairing Endoplasmic Reticulum Structure Proceedings of the National Academy of Sciences of the United States of America. Mar, 2013 | Pubmed ID: 23479643 Human Trace Amine-associated Receptor TAAR5 Can Be Activated by Trimethylamine PloS One. 2013 | Pubmed ID: 23393561 Homozygous Missense Mutation of NDUFV1 As the Cause of Infantile Bilateral Striatal Necrosis Neurogenetics. Feb, 2013 | Pubmed ID: 23334465 Next Generation Sequencing of the Ago2 Interacting Transcriptome Identified Chemokine Family Members As Novel Targets of Neuronal MicroRNAs in Hepatic Stellate Cells Journal of Hepatology. Feb, 2013 | Pubmed ID: 23041308 Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-ptosis-intellectual-disability Syndrome American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23200864 Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-dependent Amplification of Capsaicin-induced Responses PloS One. 2012 | Pubmed ID: 23144843 EIF2γ Mutation That Disrupts EIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation Molecular Cell. Nov, 2012 | Pubmed ID: 23063529 Integrative Genome Analyses Identify Key Somatic Driver Mutations of Small-cell Lung Cancer Nature Genetics. Oct, 2012 | Pubmed ID: 22941188 Lifestyle Transitions in Plant Pathogenic Colletotrichum Fungi Deciphered by Genome and Transcriptome Analyses Nature Genetics. Sep, 2012 | Pubmed ID: 22885923 Heterozygous De-novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: a Whole-exome Sequencing Gene-identification Study The Lancet. Neurology. Sep, 2012 | Pubmed ID: 22850527 Apoptotic Cleavage of DNA in Human Lymphocyte Chromatin Shows High Sequence Specificity Journal of Biomolecular Structure & Dynamics. 2012 | Pubmed ID: 22702732 A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function American Journal of Human Genetics. May, 2012 | Pubmed ID: 22521416 Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish American Journal of Human Genetics. Apr, 2012 | Pubmed ID: 22482805 Genome-wide Association Study of Lung Function Decline in Adults with and Without Asthma The Journal of Allergy and Clinical Immunology. May, 2012 | Pubmed ID: 22424883 Assessing the Enrichment Performance in Targeted Resequencing Experiments Human Mutation. Apr, 2012 | Pubmed ID: 22290614 Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome American Journal of Human Genetics. Nov, 2011 | Pubmed ID: 22077972 Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens PloS One. May, 2011 | Pubmed ID: 21573178 Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-chromosomal Hearing Loss American Journal of Human Genetics. May, 2011 | Pubmed ID: 21549336 Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer Science Translational Medicine. Dec, 2010 | Pubmed ID: 21160078 Genetic Determinants of Circulating Levels of Tumor Necrosis Factor Receptor II and Their Association with TNF-RII Gene Polymorphisms Cytokine. Jul, 2010 | Pubmed ID: 20488723 Association of ALPL and ENPP1 Gene Polymorphisms with Bone Strength Related Skeletal Traits in a Chuvashian Population Bone. May, 2010 | Pubmed ID: 19931660 X Chromosomal Variation is Associated with Slow Progression to AIDS in HIV-1-infected Women American Journal of Human Genetics. Aug, 2009 | Pubmed ID: 19679225 Sequence Variants Affecting Eosinophil Numbers Associate with Asthma and Myocardial Infarction Nature Genetics. Mar, 2009 | Pubmed ID: 19198610 A Genome-wide Linkage Scan for 25-OH-D(3) and 1,25-(OH)2-D3 Serum Levels in Asthma Families The Journal of Steroid Biochemistry and Molecular Biology. Mar, 2007 | Pubmed ID: 17236760 Asthma Families Show Transmission Disequilibrium of Gene Variants in the Vitamin D Metabolism and Signalling Pathway Respiratory Research. Apr, 2006 | Pubmed ID: 16600026 Phenotypic and Genetic Heterogeneity in a Genome-wide Linkage Study of Asthma Families BMC Pulmonary Medicine. Jan, 2005 | Pubmed ID: 15634351 Association of the Interleukin-1 Receptor Antagonist Gene with Asthma American Journal of Respiratory and Critical Care Medicine. Jun, 2004 | Pubmed ID: 15020290 High-resolution SNP Scan of Chromosome 6p21 in Pooled Samples from Patients with Complex Diseases Genomics. May, 2003 | Pubmed ID: 12706109 Kromatin Immunoprecipitation (ChIP) protokoll för låg-överflöd embryonala prover Rizwan Rehimi1, Michaela Bartusel1, Francesca Solinas2, Janine Altmüller2, Alvaro Rada-Iglesias1,3 1Center for Molecular Medicine Cologne (CMMC), University of Cologne, 2Cologne Center for Genomics (CCG), University of Cologne, 3Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD), Research Center and Systems Biology of Ageing Cologne, University of Cologne JoVE 56186 Genetics
Kromatin Immunoprecipitation (ChIP) protokoll för låg-överflöd embryonala prover Rizwan Rehimi1, Michaela Bartusel1, Francesca Solinas2, Janine Altmüller2, Alvaro Rada-Iglesias1,3 1Center for Molecular Medicine Cologne (CMMC), University of Cologne, 2Cologne Center for Genomics (CCG), University of Cologne, 3Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD), Research Center and Systems Biology of Ageing Cologne, University of Cologne JoVE 56186 Genetics
