J. Altmüller

A. Meindl, R. Schmutzler, H. Hellebrand, 2017, European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation.

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

P. Nürnberg, J. Dötsch, J. Altmüller, 2018, Journal of Medical Genetics.

Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial.

P. Fasching, A. Schneeweiss, C. Denkert, 2020, JAMA oncology.

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

F. Jessen, W. Lieb, J. Ramser, 2017, JAMA oncology.

Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus)

J. Altmüller, A. Nolte, Jie Cheng, 2015, Proceedings of the Royal Society B: Biological Sciences.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

D. Horn, S. Mundlos, T. Mielke, 2017, American journal of human genetics.

De Novo Mutations in SLC 25 A 24 Cause a Craniosynostosis Syndrome with Hypertrichosis , Progeroid Appearance , and Mitochondrial Dysfunction

D. Horn, S. Mundlos, T. Mielke, 2022 .

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

P. Nürnberg, W. Zimmermann, J. Altmüller, 2022, Frontiers in Cell and Developmental Biology.

NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition

A. Waisman, M. Pasparakis, J. Brüning, 2022, Molecular metabolism.

The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae)

J. Altmüller, Vendula Šlechtová, J. Bohlen, 2017, Mitochondrial DNA. Part B, Resources.

Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.)

R. Reinhardt, P. Schulze-Lefert, P. Nürnberg, 2013, Theoretical and Applied Genetics.

Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease.

C. Dieterich, M. Völkers, H. Katus, 2017, Journal of molecular and cellular cardiology.

Comprehensive profiling of wastewater viromes by genomic sequencing

M. Landthaler, E. Wyler, J. Altmüller, 2022, bioRxiv.

Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

B. McNicholas, C. Becker, P. Nürnberg, 2022 .

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

M. Nöthen, S. Brunak, V. Moreno, 2021, medRxiv.

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical Genetics.

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

P. Nürnberg, Shahida Moosa, J. Altmüller, 2016, American journal of medical genetics. Part A.

Comprehensive RNA-Seq Expression Analysis of Sensory Ganglia with a Focus on Ion Channels and GPCRs in Trigeminal Ganglia

C. Becker, J. Altmüller, G. Gisselmann, 2013, PloS one.

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

P. Nürnberg, J. Altmüller, U. Ahting, 2013, neurogenetics.

Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis

C. Becker, S. Hahn, J. Altmüller, 2017, PloS one.

The WOPR Protein Ros1 Is a Master Regulator of Sporogenesis and Late Effector Gene Expression in the Maize Pathogen Ustilago maydis

J. Dutheil, C. Becker, J. Altmüller, 2016, PLoS pathogens.

Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

B. Lorenz, P. Nürnberg, J. Altmüller, 2021, Human Genetics.

Mutations in &ggr;-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

A. Tafazzoli, B. Odermatt, D. Lacombe, 2017, The Journal of clinical investigation.

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

A. Schulz, S. Ehl, H. Hennies, 2016, Blood.

Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

P. Nürnberg, J. Altmüller, R. Betz, 2017, The British journal of dermatology.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Peter Nürnberg, Susanne Schoch, Christian Hafner, 2014, American journal of human genetics.

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

J. Altmüller, R. Kruse, R. Betz, 2015, The Journal of investigative dermatology.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Peter Nürnberg, Peter Frommolt, Janine Altmüller, 2011, American journal of human genetics.

P2Y6 receptor signaling in natural killer cells impairs insulin sensitivity in obesity

P. Giavalisco, J. Brüning, J. Altmüller, 2021, bioRxiv.

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

Susanne Motameny, Holger Thiele, Peter Nürnberg, 2016, Biological chemistry.

Deep Sequencing of the Murine Olfactory Receptor Neuron Transcriptome

C. Becker, J. Altmüller, Ninthujah Kanageswaran, 2015, PloS one.

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

H. Hennies, T. Šarić, P. Nürnberg, 2021, International journal of molecular sciences.

A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle

M. Blüher, J. Brüning, M. Awazawa, 2017, Nature Medicine.

CD74-NRG1 fusions in lung adenocarcinoma.

I. Petersen, S. Haas, M. Vingron, 2014, Cancer discovery.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

The role of de novo mutations in the development of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, S. Pulit, 2017, Human mutation.

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss

G. Nürnberg, C. Becker, P. Nürnberg, 2020, Clinical genetics.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Jacqueline K. White, N. Karp, R. Ramirez-Solis, 2012, American journal of human genetics.

DEPDC5 mutations in genetic focal epilepsies of childhood

Holger Lerche, Amit Kawalia, Kamel Jabbari, 2014, Annals of neurology.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

V. Jobanputra, D. Goldstein, S. Mane, 2021, American journal of human genetics.

OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13.

C. Becker, J. Altmüller, H. Hatt, 2018, Archives of biochemistry and biophysics.

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL

S. Mustjoki, T. Haferlach, T. Brümmendorf, 2018, Nature Communications.

Non-canonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia.

M. Hallek, M. Herling, J. Altmüller, 2022, Cancer research.

Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes

Sven-Eric Schelhorn, Thomas Lengauer, Laura Tolosi, 2013, PLoS Comput. Biol..

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

M. Kloss, K. Kiening, A. Koy, 2019, Journal of Human Genetics.

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

T. Becker, F. Stanke, B. Tümmler, 2020, Scientific Reports.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

Pedro Rebelo-Guiomar, M. Minczuk, C. Becker, 2018, Nature Communications.

SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity

C. Dieterich, J. Altmüller, M. Krüger, 2021, Nature Communications.

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)

G. Kristiansen, C. Strassburg, M. Odenthal, 2017, Hereditary Cancer in Clinical Practice.

Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling

A. Saliba, J. Vogel, V. Flockerzi, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing

J. Altmüller, B. Haenisch, A. Kawalia, 2017, Immunogenetics.

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Konrad U. Förstner, Philipp H. Schiffer, Joseph M. Johnson, 2021, Immunity.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

I. Petersen, S. Haas, M. Vingron, 2015, Genome Biology.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

Genomic ALK alterations in primary and relapsed neuroblastoma

F. Westermann, B. Hero, M. Peifer, 2023, British Journal of Cancer.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma.

S. Bens, W. Klapper, R. Siebert, 2019, Blood.

IG-MYC + neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.

W. Klapper, R. Siebert, E. Jaffe, 2018, Blood.

In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin's lymphoma and facilitates ultrasensitive residual disease detection.

A. Rosenwald, W. Klapper, A. Hagenbeek, 2021, Med.

Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage

H. Clausen‐Schaumann, U. Schlötzer-Schrehardt, A. Aszódi, 2021, The Journal of biological chemistry.

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients

Konrad U. Förstner, Philipp H. Schiffer, P. Bork, 2020, Genome Medicine.

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors

I. Petersen, D. Hayes, M. Wilkerson, 2018, Nature Communications.

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients

T. Zander, M. Odenthal, Y. Ko, 2015, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Assessing the Enrichment Performance in Targeted Resequencing Experiments

Susanne Motameny, Peter Nürnberg, Matthias Fischer, 2012, Human mutation.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

T. Wieland, T. Strom, D. Lowenstein, 2017, Human Genetics.

Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study

Anne, Ruppert, Michael R. Johnson, 2018 .

P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations

B. Wirth, P. Nürnberg, J. Altmüller, 2017, Archives of Disease in Childhood.

Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples.

Á. Rada-Iglesias, Michaela Bartusel, Rizwan Rehimi, 2017, Journal of visualized experiments : JoVE.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia

Viktor Achter, Ulrich Lang, Martin Peifer, 2018, Nature Communications.

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

P. Fasching, A. Schneeweiss, C. Denkert, 2017, JAMA oncology.

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)

A. Reuss, H. Gevensleben, D. Dietrich, 2019, Journal of Medical Genetics.

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

A. Reuss, H. Gevensleben, D. Dietrich, 2020, Journal of Medical Genetics.

CALINCA—A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease

C. Dieterich, R. Müller, B. Schermer, 2021, Cells.

Multi-ancestry association study identifies new asthma risk loci that co-localize with 1 immune cell enhancer marks 2

Sina A. Gharib, Cameron D. Palmer, L. Liang, 2017 .

Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance

C. Dieterich, J. Lackmann, J. Altmüller, 2021, bioRxiv.

UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells

C. Dieterich, J. Lackmann, J. Altmüller, 2021, bioRxiv.

nonsense-mediated mRNA decay in human cells

J. Lackmann, J. Altmüller, Niels H. Gehring, 2021 .

Nonsense-mediated mRNA decay relies on “two-factor authentication” by SMG5-SMG7

Christoph Dieterich, Thiago Britto-Borges, Janine Altmüller, 2020, bioRxiv.

Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients

C. Plass, R. Herwig, M. Hallek, 2021, International journal of molecular sciences.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

B. V. van Bon, A. Hoischen, H. Brunner, 2020, Nature Communications.

Cell type‐specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics

A. Quaas, A. Hillmer, R. Büttner, 2020, Molecular oncology.

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

B. Wirth, M. Sahin, M. Kye, 2018, Scientific Reports.

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

P. Nürnberg, J. Altmüller, B. Budde, 2013, Biological chemistry.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

H. Omran, A. Brentrup, S. Dutcher, 2019, American journal of human genetics.

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

C. Müller, K. Kieć‐Kononowicz, C. Becker, 2016, Scientific Reports.

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

M. Nöthen, H. Fröhlich, S. Moebus, 2015, International journal of cancer.

Reconstruction of rearranged T‐cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T‐cell prolymphocytic leukemia

S. Bens, R. Siebert, E. Campo, 2020, Genes, Chromosomes and Cancer.

Frequent mutations in chromatin-remodeling genes in pulmonary carcinoids

Martin Vingron, Thomas Zander, Viktor Achter, 2014, Nature Communications.

An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities.

A. Letai, C. Schmitt, L. Pasqualucci, 2020, Blood cancer discovery.

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity

T. Tan, J. Thiery, M. Speicher, 2020, EMBO molecular medicine.

Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

Roman K. Thomas, T. Zander, K. Ernestus, 2011, PloS one.

HMGB1 coordinates SASP‐related chromatin folding and RNA homeostasis on the path to senescence

Audrey M. Michel, E. Gusmão, M. Nikolic, 2021, Molecular systems biology.

SOX9 Duplication Linked to Intersex in Deer

P. Nürnberg, N. Young, R. Gasser, 2013, PloS one.

Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy.

R. Siebert, M. Ruge, M. Hallek, 2020, The Journal of molecular diagnostics : JMD.

Human brain organoids assemble functionally integrated bilateral optic vesicles.

K. Nagel-Wolfrum, V. Busskamp, S. Rizzoli, 2021, Cell stem cell.

Human brain organoids assemble functionally integrated bilateral optic vesicles

K. Nagel-Wolfrum, V. Busskamp, S. Rizzoli, 2021, bioRxiv.

m6A-mRNA methylation regulates cardiac gene expression and cellular growth

Christoph Dieterich, Hugo A Katus, Janine Altmüller, 2019, Life Science Alliance.

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

I. Blümcke, G. Genovese, I. Najm, 2022, medRxiv.

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

P. Nürnberg, J. Altmüller, Yun Li, 2021, European journal of human genetics : EJHG.

Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19

M. Hallek, P. Nürnberg, J. Altmüller, 2021, EMBO molecular medicine.

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Peter Nürnberg, Janine Altmüller, Joachim Weis, 2013, Nature Genetics.

Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis

L. Prantl, M. Kye, J. Altmüller, 2019, Scientific Reports.

Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.)

R. Reinhardt, P. Schulze-Lefert, J. Altmüller, 2013, Theoretical and Applied Genetics.

Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue

B. Misof, J. Altmüller, A. Nolte, 2021, Current Biology.

Single nucleotide polymorphism screening and association analysis – exclusion of integrin β7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma

T. Illig, L. Dumitrescu, J. Altmüller, 2004, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

S. Noachtar, C. Vollmar, P. Nürnberg, 2014, Neurobiology of Disease.

Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution

D. Garbe‐Schönberg, U. Westernströer, M. Morawski, 2022, Journal of the American Society of Nephrology : JASN.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Expression and functionality of TRPV1 in breast cancer cells

C. Becker, J. Altmüller, G. Gisselmann, 2016, Breast cancer.

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

M. Nöthen, T. Becker, R. Lifton, 2016, Familial Cancer.

Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ‐expanded huntingtin mutations

Markus M. Rinschen, Á. Rada-Iglesias, J. Altmüller, 2018, Human molecular genetics.

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

Non-canonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.

T. Aittokallio, D. Mougiakakos, M. Hallek, 2020, Blood.

Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors

H. Ji, Roman K. Thomas, W. Pao, 2016, Clinical Cancer Research.

Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE1[OPEN]

G. Coupland, F. Andrés, P. Nürnberg, 2015, Plant Physiology.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Bmc Pulmonary Medicine Phenotypic and Genetic Heterogeneity in a Genome-wide Linkage Study of Asthma Families

M. Wjst, Young-Ae Lee, F. Rüschendorf, 2004 .

Association of the interleukin-1 receptor antagonist gene with asthma.

Matthias Wjst, Michael Knapp, Thomas Illig, 2004, American journal of respiratory and critical care medicine.

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

P. Nürnberg, B. Chung, Shahida Moosa, 2015, Clinical genetics.

Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome

P. Nürnberg, J. Altmüller, Yun Li, 2022, Clinical genetics.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

F. Kortüm, K. Gripp, F. Santos-Simarro, 2019, American journal of human genetics.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome

A. Rump, W. Dobyns, J. Altmüller, 2016, American journal of medical genetics. Part A.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Martin A. M. Reijns, M. Hurles, M. Maghnie, 2015, Nature Genetics.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

A. Munnich, C. Skinner, C. Schwartz, 2012, Molecular cell.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

A. Bassett, B. Trost, M. Reuter, 2022, European Journal of Human Genetics.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

S. Scherer, A. Bassett, B. Trost, 2022, European Journal of Human Genetics.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

H. Lerche, G. Stevanin, P. Nürnberg, 2021, Annals of human genetics.

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

H. Hennies, P. Nürnberg, J. Altmüller, 2019, Molecular genetics & genomic medicine.

Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity.

Christoph Dieterich, Thiago Britto-Borges, Janine Altmüller, 2018, Molecular cell.

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A. Noegel, S. Baig, G. Nürnberg, 2016, Human Genetics.

Human Trace Amine-Associated Receptor TAAR5 Can Be Activated by Trimethylamine

T. Hummel, C. Becker, J. Altmüller, 2013, PloS one.

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

H. Kayserili, P. Nürnberg, J. Altmüller, 2016, American journal of medical genetics. Part A.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

G. Nürnberg, P. Nürnberg, J. Altmüller, 2013, The Journal of investigative dermatology.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Thomas M. Kitzler, S. Mane, F. Alkuraya, 2018, The Journal of clinical investigation.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting

Konrad U. Förstner, Philipp H. Schiffer, Jonathan L. Schmid-Burgk, 2021, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus

D. Tautz, E. Karakoç, S. Künzel, 2016, Scientific Data.

A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover

Christoph Dieterich, Janine Altmüller, Etienne Boileau, 2021, Briefings Bioinform..

A genome-wide linkage scan for 25-OH-D3 and 1,25-(OH)2-D3 serum levels in asthma families

M. Wjst, J. Altmüller, C. Braig, 2007, The Journal of Steroid Biochemistry and Molecular Biology.

Two olfactory receptors—OR2A4/7 and OR51B5—differentially affect epidermal proliferation and differentiation

R. Paus, T. Luger, J. Altmüller, 2017, Experimental dermatology.

The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing

N. Barbosa-Morais, G. Garinis, J. Altmüller, 2021, Nature Communications.

The Splicing Factor XAB2 interacts with ERCC1-XPF and XPG for RNA-loop processing during mammalian development

N. Barbosa-Morais, G. Garinis, J. Altmüller, 2020, bioRxiv.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer

Roman K. Thomas, D. Planchard, M. Peifer, 2021, npj Precision Oncology.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

P. Nürnberg, J. Altmüller, H. Thiele, 2016, Scientific Reports.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy

H. Lerche, F. Zimprich, P. Nürnberg, 2014, Epilepsia.

Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells.

M. Odenthal, H. Dienes, R. Büttner, 2013, Journal of hepatology.

Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA

R. Bundschuh, P. Nürnberg, J. Altmüller, 2011, Nucleic acids research.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies

D. Lessel, J. Altmüller, C. Kubisch, 2021, American journal of medical genetics. Part A.

Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior

J. Keilwagen, J. Oettler, J. Altmüller, 2021, Molecular ecology.

High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseases.

Jochen Hampe, Matthias Wjst, Michael Knapp, 2003, Genomics.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

P. Nürnberg, J. Altmüller, H. Thiele, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury.

R. Müller, B. Schermer, T. Benzing, 2020, Journal of the American Society of Nephrology : JASN.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

John Hwa, Véronique Baudouin, Murim Choi, 2013, Nature Genetics.

Deciphering the genetic basis of microcystin tolerance

P. Frommolt, J. Altmüller, A. Schwarzenberger, 2014, BMC Genomics.

Targeted resequencing reveals genomic signatures of barley domestication

C. Becker, J. Altmüller, A. Pankin, 2018, The New phytologist.

Targeted re-sequencing reveals the genomic signatures of multiple barley domestications

C. Becker, J. Altmüller, A. Pankin, 2016, bioRxiv.

The activation of OR51E1 causes growth suppression of human prostate cancer cells

S. Philippou, S. Perner, C. Becker, 2016, Oncotarget.

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.

H. Döhner, M. Hallek, S. Stilgenbauer, 2016, Blood.

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, Journal of the American Society of Nephrology : JASN.

Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem

J. Altmüller, W. Werr, J. Gutierrez-Marcos, 2019, Journal of experimental botany.

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas‐Papas and CHAND syndromes

P. Nürnberg, J. Altmüller, F. B. Basmanav, 2015, American journal of medical genetics. Part A.

Assessment of genetic variant burden in epilepsy-associated brain lesions

M. Daly, P. May, A. Palotie, 2019, European Journal of Human Genetics.

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.

A. Becker, B. Herrmann, B. Odermatt, 2018, Birth defects research.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

Peter Nürnberg, Janine Altmüller, Zakharia M Frenkel, 2012, Journal of biomolecular structure & dynamics.

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

A. Rump, I. Glass, W. Berger, 2016, Journal of Medical Genetics.

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

G. Stewart, J. Altmüller, Yun Li, 2019, Neurology: Genetics.

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.

J. Fellay, M. Platzer, M. Krawczak, 2009, American journal of human genetics.

Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies

R. Herwig, M. Peifer, M. Hallek, 2022, Blood.

Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.

F. Haas, S. Rensing, J. Altmüller, 2021, Fungal genetics and biology : FG & B.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility

Á. Rada-Iglesias, Michaela Bartusel, W. Bloch, 2021, Nature Cell Biology.

RNA modification mapping with JACUSA2

C. Dieterich, J. Altmüller, Michael Piechotta, 2021, bioRxiv.

Abstracts of the 51st Annual ESPN Meeting, Antalya, October 2018

Carmine, Pape, W. Newman, 2018, Pediatric nephrology (Berlin, West).

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family

S. Baig, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Markus M. Rinschen, M. Bertrand, O. de Backer, 2016, The New England journal of medicine.

Transient Antenatal Bartter ’ s Syndrome , and MAGED 2 Mutations

Markus M. Rinschen, M. Bertrand, T. Benzing, 2016 .

Ion Transporter NKCC1, Modulator of Neurogenesis in Murine Olfactory Neurons*

C. Becker, J. Altmüller, Ninthujah Kanageswaran, 2015, The Journal of Biological Chemistry.

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves.

V. Walbot, B. Usadel, J. Altmüller, 2018, The New phytologist.

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

A. Reuss, H. Gevensleben, D. Dietrich, 2017, PloS one.

Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin

P. Kloppenburg, P. Frommolt, J. Brüning, 2017, eLife.

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

P. Nürnberg, Shahida Moosa, J. Altmüller, 2016, American journal of medical genetics. Part A.

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population.

P. Nürnberg, J. Altmüller, M. Toliat, 2010, Bone.

None fits all: Unraveling structural rearrangements of the CFH gene cluster in aHUS patients using molecular combing and long fragment targeted sequencing.

B. McNicholas, C. Becker, P. Nürnberg, 2022, The Journal of molecular diagnostics : JMD.

ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF–containing protein that controls root growth angle in barley and wheat

K. Nagel, S. Salvi, J. Altmüller, 2021, Proceedings of the National Academy of Sciences.

Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia

T. Dörk, E. Boltshauser, J. Altmüller, 2020, Neuropediatrics.

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly

A. Noegel, S. Baig, P. Nürnberg, 2016, Molecular Genetics and Genomics.

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

H. Hennies, A. Noegel, P. Frommolt, 2012, American journal of human genetics.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

M. Votruba, P. Yu-Wai-Man, G. Arno, 2019, Annals of neurology.

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

P. Nürnberg, W. Bloch, J. Altmüller, 2016, eLife.

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Holger Lerche, Peter Nürnberg, Hiltrud Muhle, 2013, PloS one.

Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

R. Schüle, V. Álvarez, Michael A. Gonzalez, 2013, Human mutation.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

P. Nürnberg, J. Altmüller, U. Ahting, 2013, neurogenetics.

Ablation of the FACIT collagen XII disturbs musculoskeletal ECM organization and causes patella dislocation and myopathy

A. Pitsillides, M. Paulsson, A. Niehoff, 2021, bioRxiv.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

W. Dobyns, P. Nürnberg, J. Altmüller, 2014, Human Genetics.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

M. Sturm, P. Nürnberg, J. Altmüller, 2020, Human Genetics.

Genetic heterogeneity in Pakistani microcephaly families revisited

G. Nürnberg, P. Nürnberg, J. Altmüller, 2017, Clinical genetics.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

J. Vincent, P. Gönczy, C. Enzinger, 2014, Human molecular genetics.

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, bioRxiv.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

E. Valente, J. Seeger, E. Boltshauser, 2023, Orphanet Journal of Rare Diseases.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

F. Rüschendorf, C. Becker, P. Nürnberg, 2015, Human Genetics.

MCH Neurons Regulate Permeability of the Median Eminence Barrier

M. Schwaninger, J. Brüning, J. Altmüller, 2020, Neuron.

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia

M. Peifer, M. Hallek, O. Merkel, 2018, Nature Communications.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, Paul Roschger, Klaus Klaushofer, 2017, American journal of human genetics.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

S. Banka, K. Girisha, A. Shukla, 2023, Human Genetics.

The Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis[OPEN]

S. Reissmann, F. Haas, S. Rensing, 2018, Plant Cell.

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

W. Lieb, A. Franke, M. Westphal, 2020, Journal of Neurology.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

D. Wieczorek, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey

P. Nürnberg, J. Altmüller, H. Thiele, 2021, American journal of medical genetics. Part A.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

R. Christensen, P. Nürnberg, Shahida Moosa, 2017, Molecular genetics & genomic medicine.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

W. Dobyns, P. Nürnberg, J. Altmüller, 2014, Human Genetics.

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

Martin Steinegger, G. Hasenfuss, E. Hammer, 2023, bioRxiv.

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

I. Katona, S. Heinemann, P. Gong, 2015, Nature Communications.

The Fate of Oxidative Strand Breaks in Mitochondrial DNA

Afaf M. A. Said, K. Köhrer, J. Altmüller, 2023, Antioxidants.

1 Exon junction complexes suppress spurious splice sites to safeguard 2 transcriptome integrity 3 4 5

J. Altmüller, L. Blazquez, Thiago Britto-Borges, 2018 .

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

P. Nürnberg, J. Altmüller, Yun Li, 2021, Journal of Medical Genetics.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

S. Baig, P. Nürnberg, J. Altmüller, 2021, Genes.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

P. Nürnberg, T. Cho, Shahida Moosa, 2017, American journal of medical genetics. Part A.

Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-Dependent Amplification of Capsaicin-Induced Responses

J. Altmüller, G. Gisselmann, H. Hatt, 2012, PloS one.

A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms

Matthias Lange, J. Altmüller, A. Becker, 2019, Plant Methods.

De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster (Phodopus roborovskii) Genome: An Animal Model for Severe/Critical COVID-19

M. Landthaler, S. Andreotti, E. Wyler, 2021, bioRxiv.

RNA modification mapping with JACUSA2

Isabel S. Naarmann-de Vries, C. Dieterich, J. Altmüller, 2021, Genome Biology.

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis

M. Odenthal, M. Peifer, A. Hillmer, 2021, PloS one.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

A. Meindl, R. Schmutzler, Jan Hauke, 2019, Breast Cancer Research.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

C. Elger, A. Becker, S. Schoch, 2016, Acta Neuropathologica.

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

M. Konrad, M. Tkaczyk, J. Altmüller, 2018, Nephron.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

P. Nürnberg, J. Altmüller, C. Kubisch, 2015, Molecular and cellular probes.

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing

F. Rosenow, S. Knake, C. Josephson, 2023, Epilepsia open.

P037: High breadth whole exome sequencing of circulating tumor DNA identifies novel recurrent genetic alterations in Hodgkin lymphoma

J. Altmüller, P. Borchmann, A. Engert, 2022, HemaSphere.

A large deletion in RPGR causes XLPRA in Weimaraner dogs

P. Nürnberg, J. Altmüller, J. Epplen, 2016, Canine Genetics and Epidemiology.

Characterization of the Olfactory Receptors Expressed in Human Spermatozoa

C. Becker, G. Wennemuth, J. Altmüller, 2016, Front. Mol. Biosci..

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

K. Grzeschik, A. Buness, F. Kortüm, 2020, American journal of human genetics.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

E. Becirovic, H. Bolz, C. Neuhaus, 2017, Scientific Reports.

Senior‐Løken syndrome with IQCB1 mutation in Taiwan

J. Altmüller, D. Hwang, Pei-Hua Yu, 2018, The Kaohsiung journal of medical sciences.

Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways

M. Hallek, M. Herling, J. Altmüller, 2020, Haematologica.

Genomic basis of syndromic short stature in an Algerian patient cohort

P. Nürnberg, Shahida Moosa, J. Altmüller, 2021, American journal of medical genetics. Part A.

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

D. Postma, I. Hall, H. Stefánsson, 2009, Nature Genetics.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

C. Dieterich, N. Matsumoto, K. Ogata, 2019, Human mutation.

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

Philipp H. Schiffer, E. Schierenberg, K. Morris, 2013, BMC Genomics.

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

P. Landgraf, A. Koy, M. Liebau, 2018, Neuropediatrics.

Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids

Aurélie A G Gabriel, N. Le Stang, N. Girard, 2019, Nature Communications.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Markus M. Rinschen, C. Becker, J. Altmüller, 2023, Genome Medicine.

Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.

K. Coombes, M. Odenthal, K. Elenitoba-Johnson, 2023, Blood.

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

U. Schweizer, J. Altmüller, R. Betz, 2022, Human mutation.

A large deletion in RPGR causes XLPRA in Weimaraner dogs

P. Nürnberg, J. Altmüller, J. Epplen, 2016, Canine Genetics and Epidemiology.

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

M. Wjst, Young-Ae Lee, F. Rüschendorf, 2005, BMC pulmonary medicine.

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

J. Erdmann, S. Baig, R. Hartig, 2023, Scientific Reports.

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family

J. Erdmann, G. Nürnberg, J. Altmüller, 2022, Journal of Human Genetics.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

F. Kortüm, S. Nampoothiri, J. Altmüller, 2018, The British journal of dermatology.

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

M. Kloss, K. Kiening, A. Koy, 2019, Journal of Human Genetics.

HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types.

K. Rippe, D. Marenduzzo, C. Brackley, 2018, Molecular cell.

Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer

I. Petersen, R. Beroukhim, H. Groen, 2010, Science Translational Medicine.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

P. Frommolt, P. Nürnberg, J. Altmüller, 2012, The Lancet Neurology.

Title: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Running head: SSBP1 missense variants cause optic atrophy

Wai-man, M. Votruba, M. Michaelides, 2019 .

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.

R. Cummings, L. Weber, J. Altmüller, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients

T. Zander, M. Odenthal, Y. Ko, 2015, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

R. Lifton, P. Hoffmann, P. Nürnberg, 2015, International journal of cancer.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, B. Venkatesh, H. Kayserili, 2017, American journal of human genetics.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

H. Omran, P. Pennekamp, J. Altmüller, 2015, American journal of human genetics.

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical genetics.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.

H. Döhner, M. Hallek, S. Stilgenbauer, 2016, Blood.

m6A-mRNA methylation regulates cardiac gene expression and cellular growth

C. Dieterich, M. Völkers, P. Most, 2019, Life Science Alliance.

Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE1[OPEN]

G. Coupland, F. Andrés, P. Nürnberg, 2015, Plant Physiology.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.

Assessment of genetic variant burden in epilepsy-associated brain lesions

M. Daly, P. May, A. Palotie, 2019, European Journal of Human Genetics.

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms.

P. Nürnberg, J. Altmüller, M. Toliat, 2010, Cytokine.

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.

J. Altmüller, M. Toliat, M. Koko, 2024, European journal of human genetics : EJHG.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

P. Nürnberg, J. Altmüller, H. Thiele, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

M. Buti, J. Barretina, P. Rosenstiel, 2022, Human Molecular Genetics.

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

B. Wirth, M. Sahin, M. Kye, 2018, Scientific Reports.

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

P. Nürnberg, J. Altmüller, Filippo Beleggia, 2015, Human molecular genetics.