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Items: 1 to 20 of 299

1.

Workload measurement for molecular genetics laboratory: A survey study.

Tagliafico E, Bernardis I, Grasso M, D'Apice MR, Lapucci C, Botta A, Giachino DF, Marinelli M, Primignani P, Russo S, Sani I, Seia M, Fini S, Rimessi P, Tenedini E, Ravani A, Genuardi M, Ferlini A; Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU.

PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018.

2.

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Sharer JD, De Biase I, Matern D, Young S, Bennett MJ, Tolun AA; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2018 Oct 19. doi: 10.1038/s41436-018-0328-6. [Epub ahead of print]

PMID:
30459394
3.

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.

SoRelle JA, Thodeson DM, Arnold S, Gotway G, Park JY.

JAMA Pediatr. 2018 Nov 5:e182302. doi: 10.1001/jamapediatrics.2018.2302. [Epub ahead of print]

PMID:
30398534
4.

Utility of human leukocyte antigen-B*58: 01 genotyping and patient outcomes.

Ke CH, Chung WH, Tain YL, Huang YB, Wen YH, Chuang HY, Hsu CN.

Pharmacogenet Genomics. 2019 Jan;29(1):1-8. doi: 10.1097/FPC.0000000000000359.

PMID:
30379713
5.

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Kuo CY, Signer R, Saitta SC.

Curr Allergy Asthma Rep. 2018 Oct 30;18(12):75. doi: 10.1007/s11882-018-0823-5. Review.

PMID:
30377837
6.

Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.

Scheuner MT, Russell MM, Chanfreau-Coffinier C, Peredo J, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI.

Genet Med. 2018 Oct 31. doi: 10.1038/s41436-018-0344-6. [Epub ahead of print]

PMID:
30377384
7.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.

J Natl Cancer Inst. 2018 Oct 12. doi: 10.1093/jnci/djy132. [Epub ahead of print]

PMID:
30312457
8.

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, Nakajima K, Mizuno T, Imai K, Sugawara Y, Morio T, Kumada S, Takagi M.

Brain Dev. 2018 Oct 6. pii: S0387-7604(18)30244-4. doi: 10.1016/j.braindev.2018.09.007. [Epub ahead of print]

PMID:
30301590
9.

Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer.

Tsoli M, Wadham C, Pinese M, Failes T, Joshi S, Mould E, Yin JX, Gayevskiy V, Kumar A, Kaplan W, Ekert PG, Saletta F, Franshaw L, Liu J, Gifford A, Weber MA, Rodriguez M, Cohn RJ, Arndt G, Tyrrell V, Haber M, Trahair T, Marshall GM, McDonald K, Cowley MJ, Ziegler DS.

Cancer Biol Ther. 2018 Oct 9:1-10. doi: 10.1080/15384047.2018.1491498. [Epub ahead of print]

PMID:
30299205
10.

The role of genomic approaches in diagnosis and management of primary immunodeficiency.

Chinn IK, Bostwick BL.

Curr Opin Pediatr. 2018 Dec;30(6):791-797. doi: 10.1097/MOP.0000000000000695.

PMID:
30234646
11.

16p12.2 Recurrent Deletion.

Girirajan S, Pizzo L, Moeschler J, Rosenfeld J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Feb 26 [updated 2018 Sep 13].

12.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.

Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.

13.

Perrault Syndrome.

Newman WG, Friedman TB, Conway GS, Demain LAM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Sep 25 [updated 2018 Sep 6].

14.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

15.

Development and characterization of DNAzyme candidates demonstrating significant efficiency against human rhinoviruses.

Potaczek DP, Unger SD, Zhang N, Taka S, Michel S, Akdağ N, Lan F, Helfer M, Hudemann C, Eickmann M, Skevaki C, Megremis S, Sadewasser A, Alashkar Alhamwe B, Alhamdan F, Akdis M, Edwards MR, Johnston SL, Akdis CA, Becker S, Bachert C, Papadopoulos NG, Garn H, Renz H.

J Allergy Clin Immunol. 2018 Aug 14. pii: S0091-6749(18)31139-4. doi: 10.1016/j.jaci.2018.07.026. [Epub ahead of print]

PMID:
30114391
16.

Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.

AlHarbi M, Ali Mobark N, AlMubarak L, Aljelaify R, AlSaeed M, Almutairi A, Alqubaishi F, Hussain ME, Balbaid AAO, Said Marie A, AlSubaie L, AlShieban S, alTassan N, Ramkissoon SH, Abedalthagafi M.

Oncologist. 2018 Aug 13. pii: theoncologist.2018-0163. doi: 10.1634/theoncologist.2018-0163. [Epub ahead of print]

PMID:
30104292
17.

Precision Neuro-oncology: the Role of Genomic Testing in the Management of Adult and Pediatric Gliomas.

Ramkissoon LA, Britt N, Guevara A, Whitt E, Severson E, Sathyan P, Gay L, Elvin J, Ross JS, Brown C, Stogner-Underwood K, Mott R, Kram D, Strowd R, Lesser GJ, Ramkissoon SH.

Curr Treat Options Oncol. 2018 Jun 21;19(8):41. doi: 10.1007/s11864-018-0559-4. Review.

PMID:
29931654
18.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Aug;19(3):205-213. doi: 10.1007/s10048-018-0551-y. Epub 2018 Jun 20. Erratum in: Neurogenetics. 2018 Jul 11;:.

PMID:
29926239
19.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID.

Genet Med. 2018 Jun 15. doi: 10.1038/s41436-018-0004-x. [Epub ahead of print]

PMID:
29907799
20.

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM; ACMG Professional Practice and Guidelines Committee.

Genet Med. 2018 Sep;20(9):899-909. doi: 10.1038/s41436-018-0039-z. Epub 2018 Jun 14.

PMID:
29904160

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