Format
Sort by
Items per page

Send to

Choose Destination

Best matches for Nürnberg P[au]:

Comprehensive genomic profiles of small cell lung cancer. George J et al. Nature. (2015)

A mechanistic classification of clinical phenotypes in neuroblastoma. Ackermann S et al. Science. (2018)

Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models. Linnekamp JF et al. Cell Death Differ. (2018)

Search results

Items: 1 to 50 of 581

1.

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, Li Y, Wollnik B, Burfeind P, Pauli S.

Mol Syndromol. 2020 Feb;11(1):30-37. doi: 10.1159/000505797. Epub 2020 Feb 5.

PMID:
32256299
2.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.

Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ.

Genome Med. 2020 Mar 17;12(1):28. doi: 10.1186/s13073-020-00725-6.

3.

Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial.

Pohl-Rescigno E, Hauke J, Loibl S, Möbus V, Denkert C, Fasching PA, Kayali M, Ernst C, Weber-Lassalle N, Hanusch C, Tesch H, Müller V, Altmüller J, Thiele H, Untch M, Lübbe K, Nürnberg P, Rhiem K, Furlanetto J, Lederer B, Jackisch C, Nekljudova V, Schmutzler RK, Schneeweiss A, Hahnen E.

JAMA Oncol. 2020 Mar 12. doi: 10.1001/jamaoncol.2020.0007. [Epub ahead of print]

PMID:
32163106
4.

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.

Transl Psychiatry. 2020 Feb 4;10(1):57. doi: 10.1038/s41398-020-0732-y.

5.

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, Nürnberg P, Korf BR, Kubisch C, Lessel D.

Hum Genet. 2020 Apr;139(4):483-498. doi: 10.1007/s00439-019-02105-6. Epub 2020 Feb 13.

6.

Whole blood gene expression profiling distinguishes systemic sclerosis-overlap syndromes from other subsets.

Moinzadeh P, Frommolt P, Franitza M, Toliat MR, Becker K, Nürnberg P, Nihtyanova SI, Ahrazoglu M, Belz D, Hunzelmann N, Abraham D, Ong VH, Mouthon L, Hesselstrand R, Denton CP, Krieg T.

J Eur Acad Dermatol Venereol. 2020 Jan 15. doi: 10.1111/jdv.16198. [Epub ahead of print] No abstract available.

PMID:
31945216
7.

Li Coordination of a Novel Asymmetric Anion in Ionic Liquid-in-Li Salt Electrolytes.

Nürnberg P, Lozinskaya EI, Shaplov AS, Schönhoff M.

J Phys Chem B. 2020 Feb 6;124(5):861-870. doi: 10.1021/acs.jpcb.9b11051. Epub 2020 Jan 23.

PMID:
31927960
8.

Identification of pathogenic variant enriched regions across genes and gene families.

Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D.

Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. Epub 2019 Dec 23.

PMID:
31871067
9.

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

Yigit G, 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, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.

Hum Mutat. 2020 Mar;41(3):591-599. doi: 10.1002/humu.23964. Epub 2019 Dec 24.

PMID:
31821646
10.

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S.

Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4.

PMID:
31680123
11.

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.

Patil P, Cieslak A, Bernhart SH, Toprak UH, Wagener R, López C, Wiehle L, Bens S, Altmüller J, Franitza M, Scholz I, Jayne S, Ahearne MJ, Scheffold A, Jebaraj BMC, Schneider C, Costa D, Braun T, Schrader A, Campo E, Dyer MJS, Nürnberg P, Dürig J, Johansson P, Böttcher S, Schlesner M, Herling M, Stilgenbauer S, Macintyre E, Siebert R.

Genes Chromosomes Cancer. 2020 Apr;59(4):261-267. doi: 10.1002/gcc.22821. Epub 2019 Nov 29.

PMID:
31677197
12.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M.

J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5.

13.

Novel mutations in SLC6A5 with benign course in hyperekplexia.

Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S.

Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6). pii: a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec.

14.

Prekallikrein inhibits innate immune signaling in the lung and impairs host defense during pneumosepsis in mice.

Ding C, Scicluna BP, Stroo I, Yang J, Roelofs JJ, de Boer OJ, de Vos AF, Nürnberg P, Revenko AS, Crosby J, Van't Veer C, van der Poll T.

J Pathol. 2020 Jan;250(1):95-106. doi: 10.1002/path.5354. Epub 2019 Nov 25.

15.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.

Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.

16.

Distinct genetic variation and heterogeneity of the Iranian population.

Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M.

PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.

17.

Copy number variants in lipid metabolism genes are associated with gallstones disease in men.

Pérez-Palma E, Bustos BI, Lal D, Buch S, Azocar L, Toliat MR, Lieb W, Franke A, Hinz S, Burmeister G, von Shönfels W, Schafmayer C, Ahnert P, Völzke H, Völker U, Homuth G, Lerch MM, Puschel K, Gutiérrez RA, Hampe J, Nürnberg P, Miquel JF, De Ferrari GV.

Eur J Hum Genet. 2020 Feb;28(2):264-273. doi: 10.1038/s41431-019-0501-7. Epub 2019 Sep 4.

18.

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.

Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A.

Hum Mutat. 2020 Jan;41(1):169-181. doi: 10.1002/humu.23904. Epub 2019 Sep 15.

PMID:
31464095
19.

Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.

Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S.

J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y.

PMID:
31388109
20.

Assessment of genetic variant burden in epilepsy-associated brain lesions.

Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, Blümcke I, Lal D.

Eur J Hum Genet. 2019 Nov;27(11):1738-1744. doi: 10.1038/s41431-019-0484-4. Epub 2019 Jul 29.

PMID:
31358956
21.

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ.

FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25.

PMID:
31345061
22.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M.

Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31.

PMID:
31298765
23.

Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia.

Khan HN, Perlee D, Schoenmaker L, van der Meer AJ, Franitza M, Toliat MR, Nürnberg P, Zwinderman AH, van der Poll T, Scicluna BP.

J Leukoc Biol. 2019 Nov;106(5):1153-1160. doi: 10.1002/JLB.4A0219-050R. Epub 2019 Jul 7.

24.

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.

Kinfe TM, Asif M, Chakravarthy KV, Deer TR, Kramer JM, Yearwood TL, Hurlemann R, Hussain MS, Motameny S, Wagle P, Nürnberg P, Gravius S, Randau T, Gravius N, Chaudhry SR, Muhammad S.

J Transl Med. 2019 Jun 19;17(1):205. doi: 10.1186/s12967-019-1952-x.

25.

Genetic background of high blood pressure is associated with reduced mortality in premature neonates.

Göpel W, Müller M, Rabe H, Borgmann J, Rausch TK, Faust K, Kribs A, Dötsch J, Ellinghaus D, Härtel C, Roll C, Szabo M, Nürnberg P, Franke A, König IR, Turner MA, Herting E.

Arch Dis Child Fetal Neonatal Ed. 2020 Mar;105(2):184-189. doi: 10.1136/archdischild-2019-317131. Epub 2019 Jun 14.

26.

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.

Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S.

J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. Erratum in: J Hum Genet. 2019 Aug 6;:.

PMID:
31165786
27.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP.

Exp Neurol. 2019 Oct;320:112958. doi: 10.1016/j.expneurol.2019.112958. Epub 2019 May 24.

PMID:
31132363
28.

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Grassmann F, Harsch S, Brandl C, Kiel C, Nürnberg P, Toliat MR, Fleckenstein M, Pfau M, Schmitz-Valckenberg S, Holz FG, Chew EY, Swaroop A, Ratnapriya R, Klein ML, Mulyukov Z, Zamiri P, Weber BHF.

JAMA Ophthalmol. 2019 May 23. doi: 10.1001/jamaophthalmol.2019.1318. [Epub ahead of print]

PMID:
31120506
29.

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database.

Pérez-Palma E, Gramm M, Nürnberg P, May P, Lal D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W99-W105. doi: 10.1093/nar/gkz411.

30.

Variant Score Ranker-a web application for intuitive missense variant prioritization.

Du J, Sudarsanam M, Pérez-Palma E, Ganna A, Francioli L, Iqbal S, Niestroj LM, Leu C, Weisburd B, Poterba T, Nürnberg P, Daly MJ, Palotie A, May P, Lal D.

Bioinformatics. 2019 Nov 1;35(21):4478-4479. doi: 10.1093/bioinformatics/btz252.

PMID:
31086968
31.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.

Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.

32.

Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniae.

Perlee D, de Vos AF, Scicluna BP, Mancheño P, de la Rosa O, Dalemans W, Nürnberg P, Lombardo E, van der Poll T.

Stem Cells Transl Med. 2019 Aug;8(8):785-796. doi: 10.1002/sctm.18-0260. Epub 2019 Apr 29.

33.

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).

Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.

J Med Genet. 2019 Sep;56(9):574-580. doi: 10.1136/jmedgenet-2018-105930. Epub 2019 Apr 12.

PMID:
30979843
34.

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Vidal EA, Moyano TC, Bustos BI, Pérez-Palma E, Moraga C, Riveras E, Montecinos A, Azócar L, Soto DC, Vidal M, Di Genova A, Puschel K, Nürnberg P, Buch S, Hampe J, Allende ML, Cambiazo V, González M, Hodar C, Montecino M, Muñoz-Espinoza C, Orellana A, Reyes-Jara A, Travisany D, Vizoso P, Moraga M, Eyheramendy S, Maass A, De Ferrari GV, Miquel JF, Gutiérrez RA.

Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z.

35.

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.

Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A, Hinz S, Burmeister G, von Schönfels W, Schafmayer C, Völzke H, Völker U, Homuth G, Lerch MM, Santos JL, Puschel K, Bambs C, Roa JC, Gutiérrez RA, Hampe J, De Ferrari GV, Miquel JF.

Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z.

36.

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC.

Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1.

37.

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma.

Wagener R, Seufert J, Raimondi F, Bens S, Kleinheinz K, Nagel I, Altmüller J, Thiele H, Hübschmann D, Kohler CW, Nürnberg P, Au-Yeung R, Burkhardt B, Horn H, Leoncini L, Jaffe ES, Ott G, Rymkiewicz G, Schlesner M, Russell RB, Klapper W, Siebert R.

Blood. 2019 Feb 28;133(9):962-966. doi: 10.1182/blood-2018-07-864025. Epub 2018 Dec 19.

38.

A mechanistic classification of clinical phenotypes in neuroblastoma.

Ackermann S, Cartolano M, Hero B, Welte A, Kahlert Y, Roderwieser A, Bartenhagen C, Walter E, Gecht J, Kerschke L, Volland R, Menon R, Heuckmann JM, Gartlgruber M, Hartlieb S, Henrich KO, Okonechnikov K, Altmüller J, Nürnberg P, Lefever S, de Wilde B, Sand F, Ikram F, Rosswog C, Fischer J, Theissen J, Hertwig F, Singhi AD, Simon T, Vogel W, Perner S, Krug B, Schmidt M, Rahmann S, Achter V, Lang U, Vokuhl C, Ortmann M, Büttner R, Eggert A, Speleman F, O'Sullivan RJ, Thomas RK, Berthold F, Vandesompele J, Schramm A, Westermann F, Schulte JH, Peifer M, Fischer M.

Science. 2018 Dec 7;362(6419):1165-1170. doi: 10.1126/science.aat6768.

PMID:
30523111
39.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.

Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.

40.

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC.

Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.

41.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

42.

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.

PLoS One. 2018 Oct 31;13(10):e0205895. doi: 10.1371/journal.pone.0205895. eCollection 2018.

43.

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.

Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.

44.

IG-MYC + neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.

Wagener R, López C, Kleinheinz K, Bausinger J, Aukema SM, Nagel I, Toprak UH, Seufert J, Altmüller J, Thiele H, Schneider C, Kolarova J, Park J, Hübschmann D, Murga Penas EM, Drexler HG, Attarbaschi A, Hovland R, Kjeldsen E, Kneba M, Kontny U, de Leval L, Nürnberg P, Oschlies I, Oscier D, Schlegelberger B, Stilgenbauer S, Wössmann W, Schlesner M, Burkhardt B, Klapper W, Jaffe ES, Küppers R, Siebert R.

Blood. 2018 Nov 22;132(21):2280-2285. doi: 10.1182/blood-2018-03-842088. Epub 2018 Oct 3.

45.

Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations.

Macheleidt IF, Dalvi PS, Lim SY, Meemboor S, Meder L, Käsgen O, Müller M, Kleemann K, Wang L, Nürnberg P, Rüsseler V, Schäfer SC, Mahabir E, Büttner R, Odenthal M.

Mol Oncol. 2018 Nov;12(11):1965-1979. doi: 10.1002/1878-0261.12382. Epub 2018 Oct 13.

46.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

47.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

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, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, 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, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

48.

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

Fazeli W, Becker K, Herkenrath P, Düchting C, Körber F, Landgraf P, Nürnberg P, Altmüller J, Thiele H, Koy A, Liebau MC, Simon T, Dötsch J, Cirak S.

Neuropediatrics. 2018 Dec;49(6):379-384. doi: 10.1055/s-0038-1668141. Epub 2018 Aug 30.

PMID:
30165711
49.

Capturing colorectal cancer inter-tumor heterogeneity in patient-derived xenograft (PDX) models.

Prasetyanti PR, van Hooff SR, van Herwaarden T, de Vries N, Kalloe K, Rodermond H, van Leersum R, de Jong JH, Franitza M, Nürnberg P, Todaro M, Stassi G, Medema JP.

Int J Cancer. 2019 Jan 15;144(2):366-371. doi: 10.1002/ijc.31767. Epub 2018 Oct 22.

50.

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.

PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.

Supplemental Content

Loading ...
Support Center