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 Atenuada BMP1 Función Compromisos Osteogénesis, Llevando Al Hueso Fragilidad En Los Seres Humanos Y Los Peces Cebra 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 Cromatina (ChIP) de la inmunoprecipitación protocolo para muestras embrionarias baja abundancia 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
Cromatina (ChIP) de la inmunoprecipitación protocolo para muestras embrionarias baja abundancia 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
