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Items: 1 to 50 of 123

1.

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS.

Genet Med. 2019 May 31. doi: 10.1038/s41436-019-0560-8. [Epub ahead of print]

PMID:
31147632
2.

Safety analysis of German real-life cohort WIP shows rates of neuropsychiatric events leading to discontinuation of raltegravir therapy below 2.

Naumann U, Moll A, Schleehauf D, Lutz KT, Schmidt W, Jaeger H, Funke B, Witte V.

Int J STD AIDS. 2019 Jun;30(7):727-728. doi: 10.1177/0956462418812642. No abstract available.

3.

Publisher Correction: Martian dust storm impact on atmospheric H2O and D/H observed by ExoMars Trace Gas Orbiter.

Vandaele AC, Korablev O, Daerden F, Aoki S, Thomas IR, Altieri F, López-Valverde M, Villanueva G, Liuzzi G, Smith MD, Erwin JT, Trompet L, Fedorova AA, Montmessin F, Trokhimovskiy A, Belyaev DA, Ignatiev NI, Luginin M, Olsen KS, Baggio L, Alday J, Bertaux JL, Betsis D, Bolsée D, Clancy RT, Cloutis E, Depiesse C, Funke B, Garcia-Comas M, Gérard JC, Giuranna M, Gonzalez-Galindo F, Grigoriev AV, Ivanov YS, Kaminski J, Karatekin O, Lefèvre F, Lewis S, López-Puertas M, Mahieux A, Maslov I, Mason J, Mumma MJ, Neary L, Neefs E, Patrakeev A, Patsaev D, Ristic B, Robert S, Schmidt F, Shakun A, Teanby NA, Viscardy S, Willame Y, Whiteway J, Wilquet V, Wolff MJ, Bellucci G, Patel MR, López-Moreno JJ, Forget F, Wilson CF, Young R, Svedhem H, Vago JL, Rodionov D; NOMAD Science Team; ACS Science Team.

Nature. 2019 May;569(7754):E1. doi: 10.1038/s41586-019-1163-x.

PMID:
30996351
4.

Martian dust storm impact on atmospheric H2O and D/H observed by ExoMars Trace Gas Orbiter.

Vandaele AC, Korablev O, Daerden F, Aoki S, Thomas IR, Altieri F, López-Valverde M, Villanueva G, Liuzzi G, Smith MD, Erwin JT, Trompet L, Fedorova AA, Montmessin F, Trokhimovskiy A, Belyaev DA, Ignatiev NI, Luginin M, Olsen KS, Baggio L, Alday J, Bertaux JL, Betsis D, Bolsée D, Clancy RT, Cloutis E, Depiesse C, Funke B, Garcia-Comas M, Gérard JC, Giuranna M, Gonzalez-Galindo F, Grigoriev AV, Ivanov YS, Kaminski J, Karatekin O, Lefèvre F, Lewis S, López-Puertas M, Mahieux A, Maslov I, Mason J, Mumma MJ, Neary L, Neefs E, Patrakeev A, Patsaev D, Ristic B, Robert S, Schmidt F, Shakun A, Teanby NA, Viscardy S, Willame Y, Whiteway J, Wilquet V, Wolff MJ, Bellucci G, Patel MR, López-Moreno JJ, Forget F, Wilson CF, Svedhem H, Vago JL, Rodionov D; NOMAD Science Team; ACS Science Team.

Nature. 2019 Apr;568(7753):521-525. doi: 10.1038/s41586-019-1097-3. Epub 2019 Apr 10. Erratum in: Nature. 2019 Apr 17;:.

PMID:
30971830
5.

Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.

Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team.

Nat Biotechnol. 2019 May;37(5):567. doi: 10.1038/s41587-019-0108-0.

PMID:
30899106
6.

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.

Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E.

Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371.

PMID:
30871351
7.

Best practices for benchmarking germline small-variant calls in human genomes.

Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team.

Nat Biotechnol. 2019 May;37(5):555-560. doi: 10.1038/s41587-019-0054-x. Epub 2019 Mar 11. Erratum in: Nat Biotechnol. 2019 Mar 21;:.

PMID:
30858580
8.

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B.

Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.

9.

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS.

Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. No abstract available.

10.

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B.

J Mol Diagn. 2019 May;21(3):369-374. doi: 10.1016/j.jmoldx.2018.11.004. Epub 2018 Dec 31. Review.

PMID:
30605766
11.

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H.

Am J Med Genet A. 2019 Mar;179(3):365-372. doi: 10.1002/ajmg.a.61017. Epub 2018 Dec 27.

PMID:
30588760
12.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.

PMID:
30311389
13.

Cross-sectional increase of adherence to multidisciplinary tumor board decisions.

Hollunder S, Herrlinger U, Zipfel M, Schmolders J, Janzen V, Thiesler T, Güresir E, Schröck A, Far F, Pietsch T, Pantelis D, Thomas D, Vornholt S, Ernstmann N, Manser T, Neumann M, Funke B, Schmidt-Wolf IGH.

BMC Cancer. 2018 Sep 29;18(1):936. doi: 10.1186/s12885-018-4841-4.

14.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.

Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS.

Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.

15.

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Ceyhan-Birsoy O, Miatkowski MM, Hynes E, Funke BH, Mason-Suares H.

Hum Mutat. 2018 Jul;39(7):954-958. doi: 10.1002/humu.23535. Epub 2018 May 16.

PMID:
29696744
16.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B.

Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4.

17.

Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together.

Ingles J, Burns C, Funke B.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001916. doi: 10.1161/CIRCGENETICS.117.001916. No abstract available.

PMID:
28986458
18.

The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.

Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB.

Acad Pathol. 2017 Jul 16;4:2374289517708309. doi: 10.1177/2374289517708309. eCollection 2017 Jan-Dec.

19.

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS.

Genet Med. 2017 Oct;19(10):1151-1158. doi: 10.1038/gim.2017.26. Epub 2017 May 18.

20.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE.

Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21.

PMID:
28322587
21.

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA.

Eur Heart J. 2017 Dec 7;38(46):3461-3468. doi: 10.1093/eurheartj/ehw603.

22.

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

Kudalkar EM, Almontashiri NA, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke BH.

J Mol Diagn. 2016 Nov;18(6):882-889. doi: 10.1016/j.jmoldx.2016.07.005. Epub 2016 Sep 15.

PMID:
27639548
23.

Genetic Misdiagnoses and the Potential for Health Disparities.

Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS.

N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092.

24.

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

25.

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B.

Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26.

PMID:
27228465
26.

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH.

Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar.

27.

Measuring and modeling the lifetime of nitrous oxide including its variability.

Prather MJ, Hsu J, DeLuca NM, Jackman CH, Oman LD, Douglass AR, Fleming EL, Strahan SE, Steenrod SD, Søvde OA, Isaksen IS, Froidevaux L, Funke B.

J Geophys Res Atmos. 2015 Jun 16;120(11):5693-5705. Epub 2015 Jun 5.

28.

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C.

Clin Chem. 2016 Jun;62(6):799-806. doi: 10.1373/clinchem.2015.247874. Epub 2016 Feb 9. No abstract available.

29.

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

Rehm HL, Hynes E, Funke BH.

J Pers Med. 2016 Jan 27;6(1). pii: E8. doi: 10.3390/jpm6010008.

30.

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

Funke BH.

J Cardiovasc Transl Res. 2016 Feb;9(1):1-2. doi: 10.1007/s12265-015-9667-8. Epub 2016 Jan 6. No abstract available.

PMID:
26739320
31.

Similar efficacy and tolerability of raltegravir-based antiretroviral therapy in HIV-infected patients, irrespective of age group, burden of comorbidities and concomitant medication: Real-life analysis of the German 'WIP' cohort.

Naumann U, Moll A, Schleehauf D, Lutz T, Schmidt W, Jaeger H, Funke B, Witte V.

Int J STD AIDS. 2017 Aug;28(9):893-901. doi: 10.1177/0956462416679550. Epub 2016 Nov 14. Erratum in: Int J STD AIDS. 2017 Jun;28(7):738.

32.

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS.

Genet Med. 2016 Jul;18(7):712-9. doi: 10.1038/gim.2015.156. Epub 2015 Dec 17.

33.

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS.

Genet Med. 2016 Jun;18(6):545-53. doi: 10.1038/gim.2015.141. Epub 2015 Nov 12. Review.

PMID:
26562227
34.

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS.

Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29.

PMID:
26444186
35.

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM.

Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available.

36.

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL.

Genet Med. 2015 Apr;17(4):319. doi: 10.1038/gim.2015.16.

PMID:
25835197
37.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.

Am J Hum Genet. 2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.

38.

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL.

Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22. Erratum in: Genet Med. 2015 Apr;17(4):319.

PMID:
25611685
39.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH.

J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23.

PMID:
25157971
40.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
41.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

42.

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PMID:
24503780
43.

Vertical structure of stratospheric water vapour trends derived from merged satellite data.

Hegglin MI, Plummer DA, Shepherd TG, Scinocca JF, Anderson J, Froidevaux L, Funke B, Hurst D, Rozanov A, Urban J, von Clarmann T, Walker KA, Wang HJ, Tegtmeier S, Weigel K.

Nat Geosci. 2014;7:768-776. doi: 10.1038/ngeo2236. Epub 2014 Aug 31.

44.

The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration.

Hoshino S, Sakamoto K, Vassilopoulos S, Camus SM, Griffin CA, Esk C, Torres JA, Ohkoshi N, Ishii A, Tamaoka A, Funke BH, Kucherlapati R, Margeta M, Rando TA, Brodsky FM.

PLoS One. 2013 Oct 30;8(10):e77787. doi: 10.1371/journal.pone.0077787. eCollection 2013.

45.

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

46.

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM.

Am J Med Genet A. 2013 Dec;161A(12):3187-90. doi: 10.1002/ajmg.a.36182. Epub 2013 Aug 16.

PMID:
23956225
47.

ACMG clinical laboratory standards for next-generation sequencing.

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee.

Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25.

48.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J.

BMC Med Genet. 2013 Jul 2;14:68. doi: 10.1186/1471-2350-14-68.

49.

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AK, Chung BH.

BMJ Case Rep. 2013 Jan 22;2013. pii: bcr2012007529. doi: 10.1136/bcr-2012-007529.

50.

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH.

J Mol Diagn. 2013 Mar;15(2):158-70. doi: 10.1016/j.jmoldx.2012.09.002. Epub 2012 Dec 27. Review.

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