Susanne Motameny

发表

Polymorphic Integrations of an Endogenous Gammaretrovirus in the Mule Deer Genome

D. Elleder, S. Schuster, N. Wittekindt, 2011, Journal of Virology.

Next Generation Sequencing of miRNAs – Strategies, Resources and Methods

Susanne Motameny, Peter Nürnberg, Björn Schumacher, 2010, Genes.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

F. Alkuraya, A. Noegel, S. Baig, 2017, Annals of neurology.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

P. Nürnberg, J. Dötsch, J. Altmüller, 2020, American journal of medical genetics. Part A.

Rare gene deletions in genetic generalized and Rolandic epilepsies

A. Uitterlinden, P. May, R. Krause, 2018, PloS one.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

A. Noegel, S. Lyonnet, C. Becker, 2022, Genetics in medicine : official journal of the American College of Medical 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.

Novel mutations in SLC6A5 with benign course in hyperekplexia

H. Thiele, S. Çırak, P. Herkenrath, 2019, Cold Spring Harbor molecular case studies.

Clustering approach to detect mRNA-degradation patterns from DNA–microarray gene-expression data

Susanne Motameny, R. Wünschiers, 2012 .

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

S. Fauser, G. Nürnberg, P. Nürnberg, 2013, PloS one.

Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice

L. Eichinger, A. Noegel, J. Altmüller, 2018, Nucleus.

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

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

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.

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.

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.

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.

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Takafumi N. Yamaguchi, Theodore G. Drivas, Klaudia Walter, 2022, medRxiv.

Assessing the Enrichment Performance in Targeted Resequencing Experiments

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

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

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

Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow

Ulrich Lang, Vishal Sinha, Stefan Borowski, 2015, PloS one.

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

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

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.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

H. Williams, D. Curtis, K. Tory, 2020, Proceedings of the National Academy of Sciences.

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.

Identifying Genes of Gene Regulatory Networks Using Formal Concept Analysis

Christian V. Forst, Rainer Schrader, Ulrich Faigle, 2008, J. Comput. Biol..

Deciphering the genetic basis of microcystin tolerance

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

Formal Concept Analysis for the Identification of Combinatorial Biomarkers in Breast Cancer

Susanne Motameny, Beatrix Versmold, Rita Schmutzler, 2008, ICFCA.

Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling

K. Chakravarthy, T. Deer, T. Randau, 2019, Journal of Translational Medicine.

Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling

K. Chakravarthy, P. Nürnberg, R. Hurlemann, 2019, Journal of Translational Medicine.

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

B. Wirth, R. Boostani, S. Yılmaz, 2021, Human mutation.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

P. Nürnberg, H. Topaloglu, S. Çırak, 2016, 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.

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

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

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.

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

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

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 .

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling

Avirup Guha Neogi, A. Buness, Christian Mertes, 2023, F1000Research.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Horn representation of a concept lattice

Susanne Motameny, Kamel Ben-Khalifa, Susanne Motameny, 2009, CLA.

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

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