Results 131 to 140 of about 55,630 (235)

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

New England Journal of Medicine, 2013
Yaping Yang, D. Muzny, J. Reid, M. Bainbridge, A. Willis, P. Ward, Alicia A. Braxton, J. Beuten, F. Xia, Zhiyv Niu, M. Hardison, R. Person, M. Bekheirnia, Magalie S Leduc, Amelia J Kirby, Peter Pham, J. Scull, Min Wang, Yan Ding, S. Plon, J. Lupski, A. Beaudet, R. Gibbs, C. Eng   +23 more
semanticscholar   +1 more source

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial. [PDF]

JCO Precis Oncol
Scollon S, Plon SE, Joffe S, Biegel JA, Kulkarni S, Miles G, Patton DR, Coffey B, Winter CL, Tsongalis GJ, Routbort MJ, Ramirez NC, Saguilig L, Piao J, Alonzo TA, Berg SL, Fox E, Weigel B, Hawkins DS, Abrams JS, Mooney M, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW, NCI-COG Pediatric MATCH Germline Reporting Committee.   +26 more
europepmc   +1 more source

ClinGen--the Clinical Genome Resource.

New England Journal of Medicine, 2015
H. Rehm, J. Berg, L. Brooks, C. Bustamante, J. Evans, M. Landrum, D. Ledbetter, D. Maglott, C. Martin, R. Nussbaum, S. Plon, E. Ramos, S. Sherry, M. Watson   +13 more
semanticscholar   +1 more source

An evaluation system for scientific journals. [PDF]

EMBO Rep
Tautz D, Rainey PB.
europepmc   +1 more source

Long-term host parasite dynamics in eight odontocete species from south-eastern South Africa. [PDF]

Int J Parasitol Parasites Wildl
Adams IA, Roussouw N, Reed C, Ham GS, Plön S.   +4 more
europepmc   +1 more source

Molecular findings among patients referred for clinical whole-exome sequencing.

Journal of the American Medical Association (JAMA), 2014
Yaping Yang, D. Muzny, F. Xia, Zhiyv Niu, R. Person, Yan Ding, P. Ward, Alicia A. Braxton, Min Wang, C. Buhay, N. Veeraraghavan, A. Hawes, T. Chiang, Magalie S Leduc, J. Beuten, Jing Zhang, Weimin He, J. Scull, A. Willis, M. Landsverk, W. Craigen, M. Bekheirnia, A. Stray-Pedersen, Pengfei Liu, Shu Wen, W. Alcaraz, H. Cui, M. Walkiewicz, J. Reid, M. Bainbridge, Ankita Patel, E. Boerwinkle, A. Beaudet, J. Lupski, S. Plon, R. Gibbs, C. Eng   +36 more
semanticscholar   +1 more source

Involvement of <i>Escherichia coli-</i>encoded Lon protease and its substrates in phenotypic antibiotic resistance elicited by 4-amino-2-nitrophenol. [PDF]

Appl Environ Microbiol
Nandini SS, Jagdish S, Rana S, Nandi D.
europepmc   +1 more source

Some characteristic cosmic ray events and an attempt at their explanation [PDF]

Some cosmic ray events with very large multiplicities and very high transverse momenta have recently been reported in balloon-borne emulsion chamber experiments.
Bhattacharyya, S.
core   +1 more source

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Human Mutation, 2008
S. Plon, D. Eccles, D. Easton, W. Foulkes, M. Genuardi, M. Greenblatt, F. Hogervorst, N. Hoogerbrugge, A. Spurdle, S. Tavtigian   +9 more
semanticscholar   +1 more source

Editorial: society journals matter-supporting science through renewed commitment. [PDF]

Microlife
Rainey PB, López-García P, Karahan ZC, Williams P, Jonjić S, Timmis KN.   +5 more
europepmc   +1 more source