Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

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Susanne Motameny

Dr.
University of Köln
Köln Center for Genomics
Weyertal 115b, 50931 Köln, Germany
Köln 50931
+49 221 47896817
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, ?elik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, G?mez-Carballa A, Rivero-Calle I, Martin?n-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultstr?m M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Geschwind DH, Arteaga S, Stephens A, Butte MJ, Boutros PC, Yamaguchi TN, Tao S, Eng S, Sanders T, Tung PJ, Broudy ME, Pan Y, Gonzalez A, Chavan N, Johnson R, Pasaniuc B, Yaspan B, Smieszek S, Rivolta C, Bibert S, Bochud PY, Dabrowski M, Zawadzki P, Sypniewski M, Kaja E, Chariyavilaskul P, Nilaratanakul V, Hirankarn N, Shotelersuk V, Pongpanich M, Phokaew C, Chetruengchai W, Tokunaga K, Sugiyama M, Kawai Y, Hasegawa T, Naito T, Namkoong H, Edahiro R, Kimura A, Ogawa S, Kanai T, Fukunaga K, Okada Y, Imoto S, Miyano S, Mangul S, Abedalthagafi MS, Zeberg H, Grzymski JJ, Washington NL, Ossowski S, Ludwig KU, Schulte EC, Riess O, Moniuszko M, Kwasniewski M, Mbarek H, Ismail SI, Verma A, Goldstein DB, Kiryluk K, Renieri A, Ferreira MAR, Richards JB. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet. 2022 11; 18(11):e1010367. PMID: 36327219; PMCID: PMC9632827.
      Citations: 13     Fields:    Translation:HumansCells
    2. Alawbathani S, Asif M, Becker C, Budde B, Gallacher L, Georgomanolis T, Ba-Saddik IA, Motameny S, Noegel AA, Pais L, Wagle P, White SM, Hussain MS, Dufour W, Jourdain AS, Baujat G, Ghoumid J, H?hne W, Lyonnet S, Manouvrier-Hanu S, Vanlerberghe C, Willems M, N?rnberg P, Escande F, Petit F. Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genet Med. 2022 08; 24(8):1708-1721. PMID: 35583550.
      Citations: 3     Fields:    Translation:HumansCells
    3. Asif M, Kaygusuz E, Shinawi M, Wagle P, Budde BS, Hochscherf J, Abdullah U, Lindenblatt D, Noegel AA, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Samra NN, Savatt JM, Rudy NL, De Luca C, Italian Undiagnosed Diseases Network, White SM, Hurst ACE, Niefind K, Brancati F, Hussain MS, Nickelsen A, Hsieh TC, H?ning S, Nienberg C, Altm?ller J, Tinschert S, Krawitz P, Jose J, N?rnberg P. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv. 2022 Jul 14; 3(3):100111. PMID: 35571680; PMCID: PMC9092267.
      Citations: 5     
    4. Iqbal M, Maroofian R, Riccardi F, Field M, Banka S, Bubshait DK, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Molinari F, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S, Genomics England Research Consortium, Beetz C, Karageorgou V, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Motameny S, Houlden H, Villard L, Alkuraya FS, Osmond M, Hussain MS, ?avdarli B, Li Y, Scherf de Almeida T, Mignon-Ravix C, Chabrol B, Vona B, Rad A, Altm?ller J, H?hne W, N?rnberg P, Wollnik B, Yigit G. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet Med. 2021 11; 23(11):2138-2149. PMID: 34244665; PMCID: PMC8553613.
      Citations: 6     Fields:    Translation:Humans
    5. Theobald SJ, Simonis A, Georgomanolis T, Kreer C, Zehner M, Eisfeld HS, Albert MC, Chhen J, Motameny S, Erger F, Fischer J, Malin JJ, Winter S, Pouikli A, David F, Koehler P, Vanshylla K, Gruell H, Hallek M, Jung N, Cornely OA, Lehmann C, Tessarz P, Kashkar H, Klein F, Koch M, Rybniker J, Gr?b J, B?ll B, Su?rez I, F?tkenheuer G, Altm?ller J, N?rnberg P. Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19. EMBO Mol Med. 2021 08 09; 13(8):e14150. PMID: 34133077; PMCID: PMC8350892.
      Citations: 63     Fields:    Translation:HumansCells
    6. Keller N, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Maroofian R, Wirth B, Karakaya M, Paketci C, N?rnberg P, Yis U. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021 04; 42(4):460-472. PMID: 33600046.
      Citations: 5     Fields:    Translation:HumansCells
    7. Bamborschke D, Kreutzer M, Motameny S, Thiele H, Kribs A, Cirak S, ?zdemir ?, D?tsch J, Altm?ller J, N?rnberg P. Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17?hours. Am J Med Genet A. 2021 01; 185(1):90-96. PMID: 33048476.
      Citations: 5     Fields:    Translation:Humans
    8. Pergande M, Motameny S, Kreutzer M, Wang H, Becker K, Karakaya M, Elcioglu N, Ostojic S, Kawalia A, Koy A, Reimann J, Schoner K, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Topaloglu H, Thiele H, Heller R, Cirak S, ?zdemir ?, Daimag?ler HS, Ehrhardt H, Chao CM, Duman ?, Hahn A, Sch?nzer A, Haliloglu G, Altm?ller J, N?rnberg P. Correction: The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 Aug; 22(8):1426-1428. PMID: 32451403.
      Citations:    Fields:    
    9. Chandler JC, Tahoun M, Goncalves T, Kleta R, Stanescu H, Bockenhauer D, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szocs A, Maka E, Toldi G, Kardos M, Fintha A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Saied MH, Marzouk S, Kelen K, Reusz G, Tulassay T, Motameny S, Thiele H, Long DA, Tomita K, Waters AM, Balogh E, Varga M, Menyh?rd DK, Schay G, Hamar R, L?gr?di R, Szekeres ?, Gribouval O, Kerti A, Perczel K, Sava F, Arrondel C, Hossain A, J?vorszky E, Rudas G, G?tze J, Dragon F, Mollet G, Dorval G, N?rnberg P, Perczel A, Szab? AJ, Antignac C, Tory K. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A. 2020 06 30; 117(26):15137-15147. PMID: 32554502; PMCID: PMC7334496.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    10. Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Girisha KM, Calza AM, Bottani A, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z, Kort?m F, Hauck F, Altm?ller J. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020 07 02; 107(1):34-45. PMID: 32497488; PMCID: PMC7332643.
      Citations: 14     Fields:    Translation:Humans
    11. Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Vilchez D, Sahin M, Wirth B, Kye MJ, Gon?alves IDCG, Altm?ller J. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. PMID: 32398663; PMCID: PMC7217882.
      Citations:    Fields:    
    12. Budde BS, Aly MA, Mohamed MR, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Sayed EAF, Mohamed ES, Bre? A, Altm?ller J, N?rnberg G, Pfister M, N?rnberg P. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet. 2020 07; 98(1):32-42. PMID: 32279305.
      Citations: 14     Fields:    Translation:Humans
    13. Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Dieterich C, Matsumoto N, Yigit G, N?rnberg P, Wollnik B, Altm?ller J. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020 03; 41(3):591-599. PMID: 31821646.
      Citations: 4     Fields:    Translation:HumansCells
    14. Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Motameny S, Thiele H, Cirak S, N?rnberg P. Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb Mol Case Stud. 2019 12; 5(6). PMID: 31604777; PMCID: PMC6913151.
      Citations: 7     Fields:    Translation:Humans
    15. Pergande M, Motameny S, Kreutzer M, Wang H, Becker K, Karakaya M, Elcioglu N, Ostojic S, Kawalia A, Koy A, Reimann J, Schoner K, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Topaloglu H, Thiele H, Heller R, Cirak S, ?zdemir ?, Daimag?ler HS, Ehrhardt H, Chao CM, Duman ?, Hahn A, Sch?nzer A, Haliloglu G, Altm?ller J, N?rnberg P. The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 03; 22(3):511-523. PMID: 31680123.
      Citations: 16     Fields:    Translation:Humans
    16. Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Thiele H, Motameny S, Toliat MR, Powell K, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Yu-Wai-Man P, Votruba M, N?rnberg G, Altm?ller J, H?hne W, N?rnberg P. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol. 2019 09; 86(3):368-383. PMID: 31298765; PMCID: PMC8855788.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    17. Kinfe TM, Asif M, Chakravarthy KV, Deer TR, Kramer JM, Yearwood TL, Hurlemann R, Hussain MS, Motameny S, Wagle P, Gravius S, Randau T, Gravius N, Chaudhry SR, Muhammad S, N?rnberg P. 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. J Transl Med. 2019 06 19; 17(1):205. PMID: 31217010; PMCID: PMC6585082.
      Citations: 11     Fields:    Translation:HumansCTClinical Trials
    18. Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Khokha MK, Hildebrandt F, Altm?ller J, Serdaroglu E, N?rnberg P. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. PMID: 30179222; PMCID: PMC6159964.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    19. Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Sinha V, Motameny S, Thiele H, Kawalia A, Toliat MR, Kraaij R, van Rooij J, Ikram MA, EuroEPINOMICS CoGIE Consortium, Zara F, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Schubert J, Wolking S, Altm?ller J, Uitterlinden AG, Lehesjoki AE, Lerche H, N?rnberg P. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One. 2018; 13(8):e0202022. PMID: 30148849; PMCID: PMC6110470.
      Citations: 1     Fields:    Translation:Humans
    20. Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Altmueller J, Naghiyeva L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Heller R, Wirth B, H?lker I, Schmitz-Steinkr?ger L, Polat AI, Okur D, Yis U, N?rnberg P. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat. 2018 09; 39(9):1284-1298. PMID: 29858556.
      Citations: 27     Fields:    Translation:Humans
    21. Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Vilchez D, Sahin M, Wirth B, Kye MJ, Gon?alves IDCG, Altm?ller J. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. PMID: 29967434; PMCID: PMC6028438.
      Citations:    Fields:    
    22. Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Vilchez D, Sahin M, Wirth B, Kye MJ, Gon?alves IDCG, Altm?ller J. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. PMID: 29784949; PMCID: PMC5962575.
      Citations: 12     Fields:    Translation:AnimalsCells
    23. Marko M, Munck M, Motameny S, Noegel AA, Eichinger L, Peche VS, Neumann S, Mro? C, Gl?ckner G, Altm?ller J. Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice. Nucleus. 2018; 9(1):503-515. PMID: 30220251; PMCID: PMC6244730.
      Citations: 6     Fields:    Translation:AnimalsCells
    24. Awazawa M, Gabel P, Tsaousidou E, Nolte H, Schmitz J, Ackermann PJ, Brandt C, Motameny S, Wunderlich FT, Kornfeld JW, Kr?ger M, Altm?ller J, Bl?her M, Br?ning JC. A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat Med. 2017 Dec; 23(12):1466-1473. PMID: 29106399.
      Citations: 22     Fields:    Translation:AnimalsCells
    25. Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Noegel AA, Al-Owain M, Baig SM, Alkuraya FS, Hahn A, Hussain MS, H?hne W, H?rtnagel K, St?be P, N?rnberg P. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017 Oct; 82(4):562-577. PMID: 28892560.
      Citations: 42     Fields:    Translation:HumansCells
    26. van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Pulit SL, Schellevis RD, Calini D, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE, Andersen PM, N?rnberg P, Altm?ller J. The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat. 2017 11; 38(11):1534-1541. PMID: 28714244; PMCID: PMC6599399.
      Citations: 9     Fields:    Translation:Humans
    27. Khan AO, Betz C, Neuhaus C, Motameny S, Bolz HJ, Becirovic E, Altm?ller J, Maria Riedmayr L, N?rnberg G, N?rnberg P. A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep. 2017 05 03; 7(1):1411. PMID: 28469144; PMCID: PMC5431179.
      Citations: 23     Fields:    Translation:Humans
    28. Haliloglu G, Becker K, Temucin C, Talim B, Pergande M, Motameny S, Aydingoz U, Topaloglu H, Cirak S, K???ksahin N, N?rnberg P. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J Hum Genet. 2017 Apr; 62(4):497-501. PMID: 27974811.
      Citations: 28     Fields:    Translation:Humans
    29. Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Altm?ller J, N?rnberg P. A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol Chem. 2016 08 01; 397(8):791-801. PMID: 27021259.
      Citations: 8     Fields:    Translation:HumansCells
    30. Kawalia A, Motameny S, Wonczak S, Thiele H, Nieroda L, Jabbari K, Borowski S, Sinha V, Gunia W, Lang U, Achter V, N?rnberg P. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One. 2015; 10(5):e0126321. PMID: 25942438; PMCID: PMC4420499.
      Citations: 19     Fields:    Translation:Humans
    31. Schwarzenberger A, Sadler T, Motameny S, Ben-Khalifa K, Frommolt P, Konrad K, von Elert E, Altm?ller J. Deciphering the genetic basis of microcystin tolerance. BMC Genomics. 2014 Sep 09; 15:776. PMID: 25199885; PMCID: PMC4168211.
      Citations: 10     Fields:    Translation:AnimalsCells
    32. Dejanovic B, Lal D, Catarino CB, Arjune S, Belaidi AA, Trucks H, Vollmar C, Surges R, Kunz WS, Motameny S, Neubauer BA, Noachtar S, Sander T, Altm?ller J, K?hler A, N?rnberg P, Schwarz G. Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol Dis. 2014 Jul; 67:88-96. PMID: 24561070.
      Citations: 26     Fields:    Translation:HumansCells
    33. Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Pannes A, Zarrinnam D, Motameny S, Hahnen E, Beck BB, R?sler S, Altm?ller J, N?rnberg G, N?rnberg P. A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS One. 2013; 8(10):e76414. PMID: 24124559; PMCID: PMC3790679.
      Citations: 19     Fields:    Translation:Humans
    34. Lal D, Becker K, Motameny S, Thiele H, Ahting U, Rolinski B, Neubauer BA, Hahn A, Altm?ller J, N?rnberg P. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013 Feb; 14(1):85-7. PMID: 23334465.
      Citations: 6     Fields:    Translation:Humans
    35. Abdallah AT, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Frommolt P, Altm?ller J, N?rnberg P. Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat. 2012 Apr; 33(4):635-41. PMID: 22290614.
      Citations: 19     Fields:    Translation:Humans
    36. Elleder D, Kim O, Padhi A, Bankert JG, Simeonov I, Schuster SC, Wittekindt NE, Motameny S, Poss M. Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome. J Virol. 2012 Mar; 86(5):2787-96. PMID: 22190723; PMCID: PMC3302240.
      Citations: 12     Fields:    Translation:AnimalsCells
    37. Motameny S, Wolters S, N?rnberg P, Schumacher B. Next Generation Sequencing of miRNAs - Strategies, Resources and Methods. Genes (Basel). 2010 Jun 03; 1(1):70-84. PMID: 24710011; PMCID: PMC3960865.
      Citations: 62     Fields:    
    38. Gebert J, Motameny S, Faigle U, Forst CV, Schrader R. Identifying genes of gene regulatory networks using formal concept analysis. J Comput Biol. 2008 Mar; 15(2):185-94. PMID: 18312149.
      Citations: 5     Fields:    Translation:Cells

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