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Items: 1 to 20 of 52

1.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

PMID:
29805042
2.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

PMID:
29754767
3.

Genomic profiling of anaplastic meningioma identifies recurrent genetic alterations with relevance to lower-grade meningioma.

Cimino PJ, Yoda RA, Wirsching HG, Warrick JI, Dorschner MO, Ferreira M.

Neuropathol Appl Neurobiol. 2018 Apr 19. doi: 10.1111/nan.12487. [Epub ahead of print] No abstract available.

PMID:
29675951
4.

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, Naj A, Nato AQ, Navas P, Nguyen H, Reitz C, Reyes D, Salerno W, Schellenberg GD, Seshadri S, Sohi H, Thornton TA, Valadares O, van Duijn C, Vardarajan BN, Wang LS, Boerwinkle E, Dupuis J, Pericak-Vance MA, Mayeux R, Wijsman EM; on behalf of the Alzheimer’s Disease Sequencing Project.

Dement Geriatr Cogn Disord. 2018;45(1-2):1-17. doi: 10.1159/000485503. Epub 2018 Feb 27.

PMID:
29486463
5.

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD.

Am J Kidney Dis. 2018 Aug;72(2):296-301. doi: 10.1053/j.ajkd.2017.09.023. Epub 2017 Dec 12.

PMID:
29246420
6.

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

Chen DH, Ma M, Scavina M, Blue E, Wolff J, Karna P, Dorschner MO, Raskind WH, Bird TD.

Muscle Nerve. 2018 May;57(5):859-862. doi: 10.1002/mus.26037. Epub 2017 Dec 28.

PMID:
29236290
7.

Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies.

Liu J, Halloran JT, Bilmes JA, Daza RM, Lee C, Mahen EM, Prunkard D, Song C, Blau S, Dorschner MO, Gadi VK, Shendure J, Blau CA, Noble WS.

Sci Rep. 2017 Dec 5;7(1):16943. doi: 10.1038/s41598-017-16813-4.

8.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N.

Genet Med. 2017 Nov 16. doi: 10.1038/gim.2017.192. [Epub ahead of print]

PMID:
29144510
9.

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S.

Am J Hum Genet. 2017 Aug 3;101(2):291-299. doi: 10.1016/j.ajhg.2017.07.006.

10.

Building a family network from genetic testing.

Leppig KA, Thiese HA, Carrel D, Crosslin DR, Dorschner MO, Gordon AS, Hartzler A, Ralston J, Scrol A, Larson EB, Jarvik GP.

Mol Genet Genomic Med. 2016 Dec 29;5(2):122-129. doi: 10.1002/mgg3.259. eCollection 2017 Mar.

11.

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Gatto EM, Allegri RF, Da Prat G, Chrem Mendez P, Hanna DS, Dorschner MO, Surace EI, Zabetian CP, Mata IF.

Neurobiol Aging. 2017 May;53:195.e11-195.e17. doi: 10.1016/j.neurobiolaging.2017.02.002. Epub 2017 Feb 10.

12.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.

Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KAB.

Genet Med. 2017 Jul;19(7):803-808. doi: 10.1038/gim.2016.198. Epub 2017 Jan 12.

13.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):113. doi: 10.1002/ajmg.b.32510. Epub 2016 Dec 1. No abstract available.

PMID:
27943640
14.

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.

Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA.

Contemp Clin Trials. 2017 Feb;53:100-105. doi: 10.1016/j.cct.2016.12.007. Epub 2016 Dec 7.

15.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL.

Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3.

16.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available.

17.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

18.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP.

Am J Med Genet B Neuropsychiatr Genet. 2016 Oct;171(7):925-30. doi: 10.1002/ajmg.b.32452. Epub 2016 Apr 25. Erratum in: Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):113.

19.

A Distributed Network for Intensive Longitudinal Monitoring in Metastatic Triple-Negative Breast Cancer.

Blau CA, Ramirez AB, Blau S, Pritchard CC, Dorschner MO, Schmechel SC, Martins TJ, Mahen EM, Burton KA, Komashko VM, Radenbaugh AJ, Dougherty K, Thomas A, Miller CP, Annis J, Fromm JR, Song C, Chang E, Howard K, Austin S, Schmidt RA, Linenberger ML, Becker PS, Senecal FM, Mecham BH, Lee SI, Madan A, Ronen R, Dutkowski J, Heimfeld S, Wood BL, Stilwell JL, Kaldjian EP, Haussler D, Zhu J.

J Natl Compr Canc Netw. 2016 Jan;14(1):8-17.

20.

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

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