Prof. Dr. rer. nat. Andreas W. Kuß
Gruppenleiter
Interfakultäres Institut für Genetik und Funktionelle Genomforschung
Felix-Hausdorff-Straße 8
D-17475 Greifswald
Büro: Raum 2.59
Telefon +49 3834 420 5814
Telefax +49 3834 420 5890
Forschungsinteressen
- Next Generation Sequencing Anwendungen
- Genetik erblicher Erkrankungen
- Molekulare Grundlagen (erblicher) kognitiver Störungen
- Molekulargenetik neurodegenerativer Erkrankungen
Publikationen
2023
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Buchmann D, Schwabe M, Weiss R, Kuss AW, Schaufler K, Schlüter R, Rödiger S, Guenther S, Schultze N (2023) Natural phenolic compounds as biofilm inhibitors of multidrug-resistant Escherichia coli - the role of similar biological processes despite structural diversity. Front Microbiol. 14:1232039. ArtikelPubmedRelated |
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Dunkel H, Wehrmann H, Jensen LR, Kuss AW, Simm S (2023) MncR: Late Integration Machine Learning Model for Classification of ncRNA Classes Using Sequence and Structural Encoding. Int J Mol Sci. 24:8884. ArtikelPubmedRelated |
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Poller W, Heidecker B, Ammirati E, Kuss AW, Tzvetkova A, Poller WC, Skurk C, Haghikia A (2023) Innate Immunity in Cardiovascular Diseases-Identification of Novel Molecular Players and Targets. J Clin Med. 12:335. ArtikelPubmedRelated |
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Rhode J, Hagenau L, Beimdiek J, Ullmann R, Hossain F, Tzvetkova A, Jensen L, Kuss A (2023) Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9 Stem Cell Res. 73:103249. ArtikelPubmedRelated |
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Venz S, von Bohlen Und Halbach V, Hentschker C, Junker H, Kuss AW, Sura T, Krüger E, Völker U, von Bohlen Und Halbach O, Jensen LR, Hammer E (2023) Global Protein Profiling in Processed Immunohistochemistry Tissue Sections. Int J Mol Sci. 24:11308. ArtikelPubmedRelated |
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Wang H, Jurasinski G, Täumer J, Kuß AW, Groß V, Köhn D, Günther A, Urich T (2023) Linking Transcriptional Dynamics of Peat Microbiomes to Methane Fluxes during a Summer Drought in Two Rewetted Fens. Environ Sci Technol. 57:5089-5101. ArtikelPubmedRelated |
2022
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Lio CT, Kacprowski T, Klaedtke M, Jensen LR, Bouter Y, Bayer TA, Kuss AW (2022) Small RNA Sequencing in the Tg4-42 Mouse Model Suggests the Involvement of snoRNAs in the Etiology of Alzheimer's Disease. J Alzheimers Dis. ArtikelPubmedRelated |
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Ristov M, Lange T, Artelt N, Nath N, Kuss AW, Gehrig J, Lindenmeyer M, Cohen CD, Gul S, Endlich K, Völker U, Endlich N (2022) The ShGlomAssay Combines High-Throughput Drug Screening With Downstream Analyses and Reveals the Protective Role of Vitamin D3 and Calcipotriol on Podocytes. Front Cell Dev Biol. 10:838086. ArtikelPubmedRelated |
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Sheffer MM, Cordellier M, Forman M, Grewoldt M, Hoffmann K, Jensen C, Kotz M, Král J, Kuss AW, Líznarová E, Uhl G (2022) Identification of sex chromosomes using genomic and cytogenetic methods in a range-expanding spider, Argiope bruennichi (Araneae: Araneidae) Biol J Linn Soc Lond. 136:405-416. ArtikelPubmedRelated |
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Täumer J, Marhan S, Groß V, Jensen C, Kuss AW, Kolb S, Urich T (2022) Linking transcriptional dynamics of CH4-cycling grassland soil microbiomes to seasonal gas fluxes. ISME J. ArtikelPubmedRelated |
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von Bohlen Und Halbach V, Venz S, Nwakor S, Hentschker C, Hammer E, Junker H, Kuss AW, von Bohlen Und Halbach O, Jensen LR (2022) Deficiency in FTSJ1 Affects Neuronal Plasticity in the Hippocampal Formation of Mice. Biology. 11:1011. ArtikelPubmedRelated |
2021
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Cirksena K, Hütte HJ, Shcherbakova A, Thumberger T, Sakson R, Weiss S, Jensen LR, Friedrich A, Todt D, Kuss AW, Ruppert T, Wittbrodt J, Bakker H, Buettner FFR (2021) The C-mannosylome of human induced pluripotent stem cells implies a role for ADAMTS16 C-mannosylation in eye development. Mol Cell Proteomics. 1446:100092. ArtikelPubmedRelated |
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Kliewe F, Kuss AW, Siegerist F, Schröder S, Schordan S, Artelt N, Kindt F, Amann K, Lindenmeyer MT, Endlich K, Endlich N (2021) Studies on the Role of the Transcription Factor Tcf21 in the Transdifferentiation of Parietal Epithelial Cells into Podocyte-Like Cells. Cell Physiol Biochem. 55:48-67. ArtikelPubmedRelated |
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Sheffer MM, Hoppe A, Krehenwinkel H, Uhl G, Kuss AW, Jensen L, Jensen C, Gillespie RG, Hoff KJ, Prost S (2021) Chromosome-level reference genome of the European wasp spider Argiope bruennichi: a resource for studies on range expansion and evolutionary adaptation. Gigascience. 10:giaa148. ArtikelPubmedRelated |
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Weil M, Hoff KJ, Meißner W, Schäfer F, Söllinger A, Wang H, Hagenau L, Kuss AW, Urich T (2021) Full Genome Sequence of a Methanomassiliicoccales Representative Enriched from Peat Soil. Microbiol resour announc. 10:e0044321. ArtikelPubmedRelated |
2020
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Bouter Y, Kacprowski T, Rö{ß}ler F, Jensen LR, Kuss AW, Bayer TA (2020) miRNA Alterations Elicit Pathways Involved in Memory Decline and Synaptic Function in the Hippocampus of Aged Tg4-42 Mice. Front Neurosci. 14:580524. ArtikelPubmedRelated |
| Franz M, Hagenau L, Jensen LR, Kuss AW (2020) Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability J Transl Genet Genom. 4:50-70. ArtikelPubmedRelated |
| Franz M, Hagenau L, Koch R, Neubauer S, Nowack B, Tzvetkova A, Jensen LR, Kuss AW (2020) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444). Stem cell research.. 49:102028. ArtikelPubmedRelated |
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Garshasbi M, Mahmoudi M, Razmara E, Vojdanian M, Aslani S, Farhadi E, Jensen LR, Arzaghi SM, Poursani S, Bitaraf A, Eidi M, Gharehdaghi EE, Kuss AW, Jamshidi A (2020) Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS. Eur J Hum Genet. ArtikelPubmedRelated |
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Grimm T, Garshasbi M, Puettmann L, Chen W, Ullmann R, Müller-Myhsok B, Klopocki E, Herbst L, Haug J, Jensen LR, Fischer C, Nöthen M, Ludwig K, Warnke A, Ott J, Schulte-Körne G, Ropers H, Kuss AW (2020) A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. Z Kinder Jugendpsychiatr Psychother. 48:478-489. ArtikelPubmedRelated |
| Nath N, Hagenau L, Weiss S, Tzvetkova A, Jensen LR, Kaderali L, Port M, Scherthan H, Kuss AW (2020) Ionizing Radiation Alters the Transition/Transversion Ratio in the Exome of Human Gingiva Fibroblasts. Health Phys. 119:109-117. ArtikelPubmedRelated |
| Nath N, Hagenau L, Weiss S, Tzvetkova A, Jensen LR, Kaderali L, Port M, Scherthan H, Kuss AW (2020) Genome-Wide DNA Alterations in X-Irradiated Human Gingiva Fibroblasts. Int J Mol Sci. 21:5778. ArtikelPubmedRelated |
2019
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Gast M, Rauch B, Haghikia A, Nakagawa S, Haas J, Stroux A, Schmidt D, Schumann P, Weiss S, Jensen L, Kratzer A, Kraenkel N, Müller C, Börnigen D, Hirose T, Blankenberg S, Escher F, Kühl A, Kuss A, Meder B, Landmesser U, Zeller T, Poller W (2019) Long noncoding RNA NEAT1 modulates immune cell functions and is suppressed in early onset myocardial infarction patients. Cardiovasc Res. ArtikelPubmedRelated |
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Gast M, Rauch BH, Nakagawa S, Haghikia A, Jasina A, Haas J, Nath N, Jensen L, Stroux A, Böhm A, Friebel J, Rauch U, Skurk C, Blankenberg S, Zeller T, Prasanth KV, Meder B, Kuss A, Landmesser U, Poller W (2019) Immune system-mediated atherosclerosis caused by deficiency of long non-coding RNA MALAT1 in ApoE-/-mice. Cardiovasc Res. 115:302-314. ArtikelPubmedRelated |
| Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers H, Kuss AW (2019) A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis. 1865:2083-2093. ArtikelPubmedRelated |
2018
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Endlich N, Kliewe F, Kindt F, Schmidt K, Kotb AM, Artelt N, Lindenmeyer MT, Cohen CD, Döring F, Kuss AW, Amann K, Moeller MJ, Kabgani N, Blumenthal A, Endlich K (2018) The transcription factor Dach1 is essential for podocyte function. J Cell Mol Med. 22:2656-2669. ArtikelPubmedRelated |
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Endlich N, Lange T, Kuhn J, Klemm P, Kotb AM, Siegerist F, Kindt F, Lindenmeyer MT, Cohen CD, Kuss AW, Nath N, Rettig R, Lendeckel U, Zimmermann U, Amann K, Stracke S, Endlich K (2018) BDNF: mRNA expression in urine cells of patients with chronic kidney disease and its role in kidney function. J Cell Mol Med. ArtikelPubmedRelated |
| Nath N, Esche J, Müller J, Jensen LR, Port M, Stanke M, Kaderali L, Scherthan H, Kuss AW (2018) Exome Sequencing Discloses Ionizing-radiation-induced DNA Variants in the Genome of Human Gingiva Fibroblasts. Health Phys. 115:151-160. ArtikelPubmedRelated |
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Steininger A, Ebert G, Becker BV, Assaf C, Möbs M, Schmidt CA, Grabarczyk P, Jensen LR, Przybylski GK, Port M, Kuss AW, Ullmann R (2018) Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line. Front Oncol. 8:183. ArtikelPubmedRelated |
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van Diepen L, Buettner FFR, Hoffmann D, Thiesler CT, Halbach OVBU, Halbach VVBU, Jensen LR, Steinemann D, Edvardson S, Elpeleg O, Schambach A, Gerardy-Schahn R, Kuss AW (2018) A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. Eur J Hum Genet. ArtikelPubmedRelated |
2017
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Iżykowska K, Przybylski GK, Gand C, Braun FC, Grabarczyk P, Kuss AW, Olek-Hrab K, Bastidas Torres AN, Vermeer MH, Zoutman WH, Tensen CP, Schmidt CA (2017) Genetic rearrangements result in altered gene expression and novel fusion transcripts in S{\'{e}}zary syndrome. Oncotarget. 8:39627-39639. ArtikelPubmedRelated |
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Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW (2017) Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 38:621-636. ArtikelPubmedRelated |
2016
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Bertelsen B, Stefánsson H, Riff Jensen L, Melchior L, Mol Debes N, Groth C, Skov L, Werge T, Karagiannidis I, Tarnok Z, Barta C, Nagy P, Farkas L, Brøndum-Nielsen K, Rizzo R, Gulisano M, Rujescu D, Kiemeney LA, Tosato S, Nawaz MS, Ingason A, Unnsteinsdottir U, Steinberg S, Ludvigsson P, Stefansson K, Kuss AW, Paschou P, Cath D, Hoekstra PJ, Müller-Vahl K, Stuhrmann M, Silahtaroglu A, Pfundt R, Tümer Z (2016) Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. Biol Psychiatry. 79:383-391. ArtikelPubmedRelated |
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Bertram J, Koschützke L, Pfannmöller JP, Esche J, van Diepen L, Kuss AW, Hartmann B, Bartsch D, Lotze M, von Bohlen Und Halbach O (2016) Morphological and behavioral characterization of adult mice deficient for SrGAP3. Cell Tissue Res. 366:1-11. ArtikelPubmedRelated |
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Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW (2016) BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLOS Genet. 12:e1006022. ArtikelPubmedRelated |
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Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U (2016) FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. Mol Syndromol. 7:144-52. ArtikelPubmedRelated |
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Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Wei$\beta$mann R, Reichl U, Steinemann D, Diekmann U, Huber NMB, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FFR (2016) Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). Mol Cell Proteomics. 15:1435-52. ArtikelPubmedRelated |
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Weissmann R, Kacprowski T, Peper M, Esche J, Jensen LR, van Diepen L, Port M, Kuss AW, Scherthan H (2016) Transcriptome Alterations In X-Irradiated Human Gingiva Fibroblasts. Health Phys. 111:75-84. ArtikelPubmedRelated |
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Weissmann R, Hüttenrauch M, Kacprowski T, Bouter Y, Pradier L, Bayer TA, Kuss AW, Wirths O (2016) Gene Expression Profiling in the APP/PS1KI Mouse Model of Familial Alzheimer's Disease. J Alzheimers Dis. 50:397-409. ArtikelPubmedRelated |
2015
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Balke D, Kuss A, Müller S (2015) Landmarks in the Evolution of (t)-RNAs from the Origin of Life up to Their Present Role in Human Cognition. Life (Basel). 6:1. ArtikelPubmedRelated |
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Bertelsen B, Melchior L, Jensen LR, Groth C, Nazaryan L, Debes NM, Skov L, Xie G, Sun W, Brøndum-Nielsen K, Kuss AW, Chen W, Tümer Z (2015) A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD. Psychiatry Res. 225:268-75. ArtikelPubmedRelated |
2014
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Bouter Y, Kacprowski T, Weissmann R, Dietrich K, Borgers H, Brauß A, Sperling C, Wirths O, Albrecht M, Jensen LR, Kuss AW, Bayer TA (2014) Deciphering the molecular profile of plaques, memory decline and neuron loss in two mouse models for Alzheimer's disease by deep sequencing. Front Aging Neurosci. 6:75. ArtikelPubmedRelated |
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Ebert G, Steininger A, Weißmann R, Boldt V, Lind-Thomsen A, Grune J, Badelt S, Heßler M, Peiser M, Hitzler M, Jensen LR, Müller I, Hu H, Arndt PF, Kuss AW, Tebel K, Ullmann R (2014) Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics. 15:537. ArtikelPubmedRelated |
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Isensee J, Wenzel C, Buschow R, Weissmann R, Kuss AW, Hucho T (2014) Subgroup-elimination transcriptomics identifies signaling proteins that define subclasses of TRPV1-positive neurons and a novel paracrine circuit. PLoS One. 9:e115731. ArtikelPubmedRelated |
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Iżykowska K, Zawada M, Nowicka K, Grabarczyk P, Kuss AW, Weissmann R, Busemann C, Ludwig W, Schmidt CA, Przybylski GK (2014) Submicroscopic genomic rearrangements change gene expression in T-cell large granular lymphocyte leukemia. Eur J Haematol. 93:143-9. ArtikelPubmedRelated |
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Konze SA, van Diepen L, Schröder A, Olmer R, Möller H, Pich A, Weißmann R, Kuss AW, Zweigerdt R, Buettner FFR (2014) Cleavage of E-cadherin and $\beta$-catenin by calpain affects Wnt signaling and spheroid formation in suspension cultures of human pluripotent stem cells. Mol Cell Proteomics. 13:990-1007. ArtikelPubmedRelated |
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Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CLM, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer APM, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T (2014) X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Hum Genet. 133:625-38. ArtikelPubmedRelated |
2013
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Edvardson S, Baumann A, Mühlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O (2013) West syndrome caused by ST3Gal-III deficiency. Epilepsia. 54:e24-7. ArtikelPubmedRelated |
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Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers H, Musante L, Kuss AW (2013) A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Am J Med Genet A. 161A:1915-22. ArtikelPubmedRelated |
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Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers H, Kuss AW, McGaughran J, Gecz J, Burstein E (2013) CCDC22 deficiency in humans blunts activation of proinflammatory NF-$\kappa$B signaling. J Clin Invest. 123:2244-56. ArtikelPubmedRelated |
2012
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Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW (2012) Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 90:847-55. ArtikelPubmedRelated |
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Kelly S, Pak C, Garshasbi M, Kuss A, Corbett AH, Moberg K (2012) New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins. RNA Biol. 9:555-62. ArtikelPubmedRelated |
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Schneider E, Jensen LR, Farcas R, Kondova I, Bontrop RE, Navarro B, Fuchs E, Kuss AW, Haaf T (2012) A high density of human communication-associated genes in chromosome 7q31-q36: differential expression in human and non-human primate cortices. Cytogenet Genome Res. 136:97-106. ArtikelPubmedRelated |
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Schneider E, Mayer S, El Hajj N, Jensen LR, Kuss AW, Zischler H, Kondova I, Bontrop RE, Navarro B, Fuchs E, Zechner U, Haaf T (2012) Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices. Cytogenet Genome Res. 136:278-87. ArtikelPubmedRelated |
2011
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Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW (2011) A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A. 155A:1976-80. ArtikelPubmedRelated |
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Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW (2011) ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 89:407-14. ArtikelPubmedRelated |
| Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer APM, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers H, Kuss AW (2011) Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. 19:717-20. ArtikelPubmedRelated |
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Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers H, Kuss AW, Najmabadi H, Tzschach A (2011) Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet. 19:115-7. ArtikelPubmedRelated |
| Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H (2011) Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet. 129:141-8. ArtikelPubmedRelated |
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Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJS, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 478:57-63. ArtikelPubmedRelated |
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Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers H, Najmabadi H, Corbett AH, Moberg KH, Kuss AW (2011) Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A. 108:12390-5. ArtikelPubmedRelated |
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Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H (2011) Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 89:176-82. ArtikelPubmedRelated |
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Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M, Santos JM, Pimentel MMG (2011) A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett. 498:67-71. ArtikelPubmedRelated |
2010
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Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H (2010) A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 47:823-8. ArtikelPubmedRelated |
| Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns J, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers H, Kuss AW (2010) A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics. 3:2. ArtikelPubmedRelated |
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Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers H, Tzschach A (2010) Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. Eur J Pediatr. 169:1535-9. ArtikelPubmedRelated |
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Timmermann B, Kerick M, Roehr C, Fischer A, Isau M, Boerno ST, Wunderlich A, Barmeyer C, Seemann P, Koenig J, Lappe M, Kuss AW, Garshasbi M, Bertram L, Trappe K, Werber M, Herrmann BG, Zatloukal K, Lehrach H, Schweiger MR (2010) Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One. 5:e15661. ArtikelPubmedRelated |
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