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Author Details

Susanne Motameny
University of Cologne
2008
37
18
PMIDPaper TitleJournal TitlePublished Year
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35583550Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.Genet Med2022
35571680<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.HGG Adv2022
33048476Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17â¿¿hours.Am J Med Genet A2021
33600046Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.Hum Mutat2021
34133077Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.EMBO Mol Med2021
32451403Correction: The genomic and clinical landscape of fetal akinesia.Genet Med2020
31680123The genomic and clinical landscape of fetal akinesia.Genet Med2020
31821646The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.Hum Mutat2020
32279305Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.Clin Genet2020
32554502Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.Proc Natl Acad Sci U S A2020
32497488Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.Am J Hum Genet2020
32398663Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.Sci Rep2020
31604777Novel mutations in <i>SLC6A5</i> with benign course in hyperekplexia.Cold Spring Harb Mol Case Stud2019
31217010Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling.J Transl Med2019
31298765SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.Ann Neurol2019
29784949Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.Sci Rep2018
30220251Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.Nucleus2018
29967434Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.Sci Rep2018
29858556Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.Hum Mutat2018
30179222Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.J Clin Invest2018
30148849Rare gene deletions in genetic generalized and Rolandic epilepsies.PLoS One2018
27974811Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.J Hum Genet2017
28469144A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Sci Rep2017
29106399A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.Nat Med2017
28892560Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.Ann Neurol2017
28714244The role of de novo mutations in the development of amyotrophic lateral sclerosis.Hum Mutat2017
27021259A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.Biol Chem2016
25942438Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow.PLoS One2015
24561070Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.Neurobiol Dis2014
25199885Deciphering the genetic basis of microcystin tolerance.BMC Genomics2014
23334465Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.Neurogenetics2013
24124559A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.PLoS One2013
22190723Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome.J Virol2012
22290614Assessing the enrichment performance in targeted resequencing experiments.Hum Mutat2012
24710011Next Generation Sequencing of miRNAs - Strategies, Resources and Methods.Genes (Basel)2010
18312149Identifying genes of gene regulatory networks using formal concept analysis.J Comput Biol2008
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Collaborators

Mustafa Sahin
Harvard Medical School
Co-authored papers 3
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
Szymon Pula
Co-authored papers 1
Jessica Nordlund
Uppsala University
Co-authored papers 1
Takafumi N Yamaguchi
University of California los angeles
Co-authored papers 1
Paul J Tung
David Geffen School of Medicine, University of California-Los Angeles
Co-authored papers 1
Mathieu Bourgey
McGill University
Co-authored papers 1
Albandari Binowayn
King Fahad Medical City and King Abdulaziz City for Science and Technology
Co-authored papers 1
Nattiya Hirankarn
Chulalongkorn University
Co-authored papers 1
Ho Namkoong
Keio University School of Medicine
Co-authored papers 1
Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Daniel M Jordan
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Noam D Beckmann
Icahn School of Medicine at Mount Sinai.
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Antonio Salas
Instituto de Investigacion Sanitaria de Santiago
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Timothy Sanders
David Geffen School of Medicine, University of California-Los Angeles
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Nicole Simons
Icahn School of Medicine at Mount Sinai
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Efren Sandoval
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Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Monnat Pongpanich
Chulalongkorn University
Co-authored papers 1
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Francisco Tanudjaja
Co-authored papers 1
Mateusz Sypniewski
MNM Bioscience Inc.
Co-authored papers 1
Yanara Marincevic-Zuniga
Uppsala University
Co-authored papers 1
Alexandre Bolze
The Rockefeller University
Co-authored papers 1
Shaun Dabe
Co-authored papers 1
Ebtehal A Alsolm
King Fahad Medical City and King Abdulaziz City for Science and Technology
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Tatsuhiko Naito
Osaka University Graduate School of Medicine
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David Curtis
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Olaf Riess
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Release 1.2