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Page 1
Benchmarking whole exome sequencing in the German network for personalized medicine.
Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, Brüchle NO, Maurer A, Lehmann KV, Begemann M, Elbracht M, Meyer R, Dintner S, Claus R, Meier-Kolthoff JP, Blanc E, Möbs M, Joosten M, Benary M, Basitta P, Hölscher F, Tischler V, Groß T, Kutz O, Prause R, William D, Horny K, Goering W, Sivalingam S, Borkhardt A, Blank C, Junk SV, Yasin L, Moskalev EA, Carta MG, Ferrazzi F, Tögel L, Wolter S, Adam E, Matysiak U, Rosenthal T, Dönitz J, Lehmann U, Schmidt G, Bartels S, Hofmann W, Hirsch S, Dikow N, Göbel K, Banan R, Hamelmann S, Fink A, Ball M, Neumann O, Rehker J, Kloth M, Murtagh J, Hartmann N, Jurmeister P, Mock A, Kumbrink J, Jung A, Mayr EM, Jacob A, Trautmann M, Kirmse S, Falkenberg K, Ruckert C, Hirsch D, Immel A, Dietmaier W, Haack T, Marienfeld R, Fürstberger A, Niewöhner J, Gerstenmaier U, Eberhardt T, Greif PA, Appenzeller S, Maurus K, Doll J, Jelting Y, Jonigk D, Märkl B, Beule D, Horst D, Wulf AL, Aust D, Werner M, Reuter-Jessen K, Ströbel P, Auber B, Sahm F, Merkelbach-Bruse S, Siebolts U, Roth W, Lassmann S, Klauschen F, Gaisa NT, Weichert W, Evert M, Armeanu-Ebinger S, Ossowski S, Schroeder C, Schaaf CP, Malek N, Schi… See abstract for full author list ➔ Menzel M, et al. Among authors: sivalingam s. Eur J Cancer. 2024 Nov;211:114306. doi: 10.1016/j.ejca.2024.114306. Epub 2024 Sep 8. Eur J Cancer. 2024. PMID: 39293347 Free article.
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Reinbold CS, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Nürnberg P, Guzman-Parra J, Orozco Diaz G, Auburger G, Albus M, Borrmann-Hassenbach M, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez Perez F, Haro González J, Rivas F, Mayoral F, Bauer M, Pfennig A, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Nöthen MM, Cichon S. Forstner AJ, et al. Among authors: sivalingam s. Transl Psychiatry. 2020 Feb 4;10(1):57. doi: 10.1038/s41398-020-0732-y. Transl Psychiatry. 2020. PMID: 32066727 Free PMC article.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: sivalingam s. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 Free PMC article.
GenRisk: a tool for comprehensive genetic risk modeling.
Aldisi R, Hassanin E, Sivalingam S, Buness A, Klinkhammer H, Mayr A, Fröhlich H, Krawitz P, Maj C. Aldisi R, et al. Among authors: sivalingam s. Bioinformatics. 2022 Apr 28;38(9):2651-2653. doi: 10.1093/bioinformatics/btac152. Bioinformatics. 2022. PMID: 35266528 Free PMC article.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: sivalingam s. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Hanssen F, Gabernet G, Bäuerle F, Stöcker B, Wiegand F, Smith NH, Mertes C, Neogi AG, Brandhoff L, Ossowski A, Altmueller J, Becker K, Petzold A, Sturm M, Stöcker T, Sivalingam S, Brand F, Schmidt A, Buness A, Probst AJ, Motameny S, Köster J. Hanssen F, et al. Among authors: sivalingam s. F1000Res. 2024 Sep 12;12:1125. doi: 10.12688/f1000research.140344.1. eCollection 2023. F1000Res. 2024. PMID: 39345270 Free PMC article.
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU. Hoebel AK, et al. Among authors: sivalingam s. J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767323
Exome sequencing in large, multiplex bipolar disorder families from Cuba.
Maaser A, Forstner AJ, Strohmaier J, Hecker J, Ludwig KU, Sivalingam S, Streit F, Degenhardt F, Witt SH, Reinbold CS, Koller AC, Raff R, Heilmann-Heimbach S, Fischer SB; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Herms S, Hoffmann P, Thiele H, Nürnberg P, Löhlein Fier H, Orozco-Díaz G, Carmenate-Naranjo D, Proenza-Barzaga N, Auburger GWJ, Andlauer TFM, Cichon S, Marcheco-Teruel B, Mors O, Rietschel M, Nöthen MM. Maaser A, et al. Among authors: sivalingam s. PLoS One. 2018 Oct 31;13(10):e0205895. doi: 10.1371/journal.pone.0205895. eCollection 2018. PLoS One. 2018. PMID: 30379966 Free PMC article.
Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.
Huettmann C, Stelljes M, Sivalingam S, Fobker M, Vrachimis A, Exler A, Wenning C, Wempe C, Penke M, Buness A, Ludwig KU, Muckenthaler MU, Steinbicker AU. Huettmann C, et al. Among authors: sivalingam s. Genes (Basel). 2021 Nov 24;12(12):1869. doi: 10.3390/genes12121869. Genes (Basel). 2021. PMID: 34946818 Free PMC article.
245 results