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Items: 24

1.

denovo-db: a compendium of human de novo variants.

Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE.

Nucleic Acids Res. 2017 Jan 4;45(D1):D804-D811. doi: 10.1093/nar/gkw865. Epub 2016 Oct 5.

2.

Global diversity, population stratification, and selection of human copy-number variation.

Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, Abdullah MS, Bravi CM, Capelli C, Hervig T, Wee JT, Tyler-Smith C, van Driem G, Romero IG, Jha AR, Karachanak-Yankova S, Toncheva D, Comas D, Henn B, Kivisild T, Ruiz-Linares A, Sajantila A, Metspalu E, Parik J, Villems R, Starikovskaya EB, Ayodo G, Beall CM, Di Rienzo A, Hammer MF, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Labuda D, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE.

Science. 2015 Sep 11;349(6253):aab3761. doi: 10.1126/science.aab3761. Epub 2015 Aug 6.

3.

Excess of rare, inherited truncating mutations in autism.

Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE.

Nat Genet. 2015 Jun;47(6):582-8. doi: 10.1038/ng.3303. Epub 2015 May 11.

4.

The contribution of de novo coding mutations to autism spectrum disorder.

Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M.

Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.

5.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

6.

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.

Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, Vives L, Lee C, Roth LA, Rodriguez-Cintron W, Rodriguez-Santana J, Brigino-Buenaventura E, Davis A, Meade K, LeNoir MA, Thyne S, Jackson DJ, Gern JE, Lemanske RF Jr, Shendure J, Abney M, Burchard EG, Ober C, Eichler EE.

PLoS One. 2014 Aug 12;9(8):e104396. doi: 10.1371/journal.pone.0104396. eCollection 2014.

7.

Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Hoischen A, Krumm N, Eichler EE.

Nat Neurosci. 2014 Jun;17(6):764-72. doi: 10.1038/nn.3703. Epub 2014 May 27. Review.

8.

Improving dementia care in nursing homes: experiences with a palliative care symptom-assessment tool (MIDOS).

Krumm N, Larkin P, Connolly M, Rode P, Elsner F.

Int J Palliat Nurs. 2014 Apr;20(4):187-92.

PMID:
24763327
9.

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE.

Am J Hum Genet. 2014 Mar 6;94(3):415-25. doi: 10.1016/j.ajhg.2014.02.001. Epub 2014 Feb 27.

10.

A de novo convergence of autism genetics and molecular neuroscience.

Krumm N, O'Roak BJ, Shendure J, Eichler EE.

Trends Neurosci. 2014 Feb;37(2):95-105. doi: 10.1016/j.tins.2013.11.005. Epub 2013 Dec 30. Review.

11.

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM.

Am J Hum Genet. 2014 Jan 2;94(1):33-46. doi: 10.1016/j.ajhg.2013.11.021. Epub 2013 Dec 19.

12.

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.

Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC.

Am J Hum Genet. 2013 Oct 3;93(4):697-710. doi: 10.1016/j.ajhg.2013.09.004.

13.

Transmission disequilibrium of small CNVs in simplex autism.

Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE.

Am J Hum Genet. 2013 Oct 3;93(4):595-606. doi: 10.1016/j.ajhg.2013.07.024. Epub 2013 Sep 12.

14.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

15.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

16.

Copy number variation detection and genotyping from exome sequence data.

Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project, Quinlan AR, Nickerson DA, Eichler EE.

Genome Res. 2012 Aug;22(8):1525-32. doi: 10.1101/gr.138115.112. Epub 2012 May 14.

17.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

18.

Allele-specific transcriptional elongation regulates monoallelic expression of the IGF2BP1 gene.

Thomas BJ, Rubio ED, Krumm N, Broin PO, Bomsztyk K, Welcsh P, Greally JM, Golden AA, Krumm A.

Epigenetics Chromatin. 2011 Aug 3;4:14. doi: 10.1186/1756-8935-4-14.

19.

Assessment of quality of life in patients receiving palliative care: comparison of measurement tools and single item on subjective well-being.

Stiel S, Psych D, Kues K, Krumm N, Radbruch L, Elsner F.

J Palliat Med. 2011 May;14(5):599-606. doi: 10.1089/jpm.2010.0473. Epub 2011 Mar 24.

PMID:
21434826
20.

Antibiotics in palliative medicine--results from a prospective epidemiological investigation from the HOPE survey.

Stiel S, Krumm N, Pestinger M, Lindena G, Nauck F, Ostgathe C, Radbruch L, Elsner F.

Support Care Cancer. 2012 Feb;20(2):325-33. doi: 10.1007/s00520-011-1084-1. Epub 2011 Jan 28.

PMID:
21274577
21.

Pharmacological treatments for fatigue associated with palliative care.

Peuckmann V, Elsner F, Krumm N, Trottenberg P, Radbruch L.

Cochrane Database Syst Rev. 2010 Nov 10;(11):CD006788. doi: 10.1002/14651858.CD006788.pub2. Review. Update in: Cochrane Database Syst Rev. 2015;5:CD006788.

PMID:
21069692
22.

Outcome indicators in palliative care--how to assess quality and success. Focus group and nominal group technique in Germany.

Pastrana T, Radbruch L, Nauck F, Höver G, Fegg M, Pestinger M, Ross J, Krumm N, Ostgathe C.

Support Care Cancer. 2010 Jul;18(7):859-68. doi: 10.1007/s00520-009-0721-4. Epub 2009 Aug 23.

23.

[Indications and use of benzodiazepines in a palliative care unit].

Stiel S, Krumm N, Schroers O, Radbruch L, Elsner F.

Schmerz. 2008 Dec;22(6):665-71. doi: 10.1007/s00482-008-0705-1. German.

PMID:
18612660
24.

Criteria for successful multiprofessional cooperation in palliative care teams.

Jünger S, Pestinger M, Elsner F, Krumm N, Radbruch L.

Palliat Med. 2007 Jun;21(4):347-54.

PMID:
17656412

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