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Items: 1 to 20 of 363

1.

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.

Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1. Review.

PMID:
30665446
2.

Next-Generation Sequencing in Human Genetic Studies: Genome Technologies and Applications to Human Genetic Studies.

Wang J, Wang K, Liu X, Sham P, Zhao Z.

Hum Hered. 2019 Jan 9;83(3):105-106. doi: 10.1159/000494818. [Epub ahead of print] No abstract available.

3.

Detection and visualization of complex structural variants from long reads.

Stephens Z, Wang C, Iyer RK, Kocher JP.

BMC Bioinformatics. 2018 Dec 21;19(Suppl 20):508. doi: 10.1186/s12859-018-2539-x.

4.

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

5.

Discovery of common and rare genetic risk variants for colorectal cancer.

Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury BL, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque MD, Cho SH, Connolly CM, Cross AJ, Cuk K, Curtis KR, de la Chapelle A, Doheny KF, Duggan D, Easton DF, Elias SG, Elliott F, English DR, Feskens EJM, Figueiredo JC, Fischer R, FitzGerald LM, Forman D, Gala M, Gallinger S, Gauderman WJ, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampel H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu WL, Huang WY, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson RD, Jacobs EJ, Jenkins MA, Joshi AD, Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kühn T, Küry S, Kweon SS, Larsson SC, Laurie CA, Le Marchand L, Leal SM, Lee SC, Lejbkowicz F, Lemire M, Li CI, Li L, Lieb W, Lin Y, Lindblom A, Lindor NM, Ling H, Louie TL, Männistö S, Markowitz SD, Martín V, Masala G, McNeil CE, Melas M, Milne RL, Moreno L, Murphy N, Myte R, Naccarati A, Newcomb PA, Offit K, Ogino S, Onland-Moret NC, Pardini B, Parfrey PS, Pearlman R, Perduca V, Pharoah PDP, Pinchev M, Platz EA, Prentice RL, Pugh E, Raskin L, Rennert G, Rennert HS, Riboli E, Rodríguez-Barranco M, Romm J, Sakoda LC, Schafmayer C, Schoen RE, Seminara D, Shah M, Shelford T, Shin MH, Shulman K, Sieri S, Slattery ML, Southey MC, Stadler ZK, Stegmaier C, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Thomas SS, Toland AE, Trichopoulou A, Ulrich CM, Van Den Berg DJ, van Duijnhoven FJB, Van Guelpen B, van Kranen H, Vijai J, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Win AK, Wolf CR, Wolk A, Woods MO, Wu AH, Zaidi SH, Zanke BW, Zhang Q, Zheng W, Scacheri PC, Potter JD, Bassik MC, Kundaje A, Casey G, Moreno V, Abecasis GR, Nickerson DA, Gruber SB, Hsu L, Peters U.

Nat Genet. 2019 Jan;51(1):76-87. doi: 10.1038/s41588-018-0286-6. Epub 2018 Dec 3.

PMID:
30510241
6.

Targeting HER2 in patient-derived xenograft ovarian cancer models sensitizes tumors to chemotherapy.

Harris FR, Zhang P, Yang L, Hou X, Leventakos K, Weroha SJ, Vasmatzis G, Kovtun IV.

Mol Oncol. 2018 Nov 30. doi: 10.1002/1878-0261.12414. [Epub ahead of print]

7.

A data science approach for the classification of low-grade and high-grade ovarian serous carcinomas.

Lin S, Wang C, Zarei S, Bell DA, Kerr SE, Runger GC, Kocher JA.

BMC Genomics. 2018 Nov 27;19(1):841. doi: 10.1186/s12864-018-5177-9.

8.

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.

Lu JT, Ferber M, Hagenkord J, Levin E, South S, Kang HP, Strong KA, Bick DP.

J Mol Diagn. 2019 Jan;21(1):3-12. doi: 10.1016/j.jmoldx.2018.09.006. Epub 2018 Nov 17. Review.

PMID:
30453057
9.

BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.

Lin KK, Harrell MI, Oza AM, Oaknin A, Ray-Coquard I, Tinker AV, Helman E, Radke MR, Say C, Vo LT, Mann E, Isaacson JD, Maloney L, O'Malley DM, Chambers SK, Kaufmann SH, Scott CL, Konecny GE, Coleman RL, Sun JX, Giordano H, Brenton JD, Harding TC, McNeish IA, Swisher EM.

Cancer Discov. 2018 Nov 13. pii: CD-18-0715. doi: 10.1158/2159-8290.CD-18-0715. [Epub ahead of print]

PMID:
30425037
10.

Comparison of endoscopic ultrasound tissue acquisition methods for genomic analysis of pancreatic cancer.

Elhanafi S, Mahmud N, Vergara N, Kochman ML, Das KK, Ginsberg GG, Rajala M, Chandrasekhara V.

J Gastroenterol Hepatol. 2018 Nov 13. doi: 10.1111/jgh.14540. [Epub ahead of print]

PMID:
30422342
11.

Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models.

Pardanani A, Shah S, Mannelli F, Elala YC, Guglielmelli P, Lasho TL, Patnaik MM, Gangat N, Ketterling RP, Reichard KK, Hanson CA, Vannucchi AM, Tefferi A.

Blood Adv. 2018 Nov 13;2(21):2964-2972. doi: 10.1182/bloodadvances.2018026245.

12.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6.

13.

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms.

Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, Bryke C, Huxley E, Lennon PA, Raca G, Xu X, Jeffries S, Quintero-Rivera F, Greipp PT, Slovak ML, Iqbal MA, Fang M.

Cancer Genet. 2018 Dec;228-229:197-217. doi: 10.1016/j.cancergen.2018.07.003. Epub 2018 Oct 10. Review.

PMID:
30377088
14.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR.

Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.

PMID:
30369044
15.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
16.

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Wong TH, van der Lee SJ, van Rooij JGJ, Meeter LHH, Frick P, Melhem S, Seelaar H, Ikram MA, Rozemuller AJ, Holstege H, Hulsman M, Uitterlinden A, Neumann M, Hoozemans JJM, van Duijn CM, Rademakers R, van Swieten JC.

Neurobiol Aging. 2019 Jan;73:229.e11-229.e18. doi: 10.1016/j.neurobiolaging.2018.08.016. Epub 2018 Aug 24.

17.

Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms.

Martinez AP, Fritchie KJ, Weiss SW, Agaimy A, Haller F, Huang HY, Lee S, Bahrami A, Folpe AL.

Mod Pathol. 2018 Oct 4. doi: 10.1038/s41379-018-0145-0. [Epub ahead of print]

PMID:
30287926
18.

Whole-genome sequencing for methicillin-resistant Staphylococcus aureus (MRSA) outbreak investigation in a neonatal intensive care unit.

Madigan T, Cunningham SA, Patel R, Greenwood-Quaintance KE, Barth JE, Sampathkumar P, Cole NC, Kohner PC, Colby CE, Asay GF, Fang JL, Baker CA, Heinrich AL, Fjerstad KA, Lujero MJ, Chia N, Jeraldo PR, Nelson H, Huskins WC.

Infect Control Hosp Epidemiol. 2018 Dec;39(12):1412-1418. doi: 10.1017/ice.2018.239. Epub 2018 Oct 4.

PMID:
30282566
19.

Use of mate-pair sequencing (MPseq) to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Kearney HM, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP.

Hum Pathol. 2018 Sep 26. pii: S0046-8177(18)30372-1. doi: 10.1016/j.humpath.2018.09.010. [Epub ahead of print]

PMID:
30267776
20.

Mapping protein selectivity landscapes using multi-target selective screening and next-generation sequencing of combinatorial libraries.

Naftaly S, Cohen I, Shahar A, Hockla A, Radisky ES, Papo N.

Nat Commun. 2018 Sep 26;9(1):3935. doi: 10.1038/s41467-018-06403-x.

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