skip to main content

Results 1 - 10 of 53  for Great Falls College MSU

Results 1 2 3 4 5 next page
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to e-Shelf

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.(REPORTS)(Report)(Author abstract)

O'roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Role ; Oday, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichter, Evan E. ; Shendure, Jay

Science, Dec 21, 2012, Vol.338(6114), p.1619(4) [Peer Reviewed Journal]

Full text available

View all versions
2
Material Type:
Article
Add to e-Shelf

Diversity of human copy number variation and multicopy genes.(RESEARCH ARTICLES)(Author abstract)(Report)

Sudmant, Peter H. ; Kitzman, Jacob O. ; Antonacci, Francesca ; Alkan, Can ; Malig, Maika ; Tsalenko, Anya ; Sampas, Nick ; Bruhn, Laurakay ; Shendure, Jay ; Eichler, Evan E.

Science, Oct 29, 2010, Vol.330(6004), p.641(6) [Peer Reviewed Journal]

Full text available

View all versions
3
Material Type:
Article
Add to e-Shelf

Saturation editing of genomic regions by multiplex homology-directed repair.(RESEARCH: LETTER)(Report)

Findlay, Gregory M. ; Boyle, Evan A. ; Hause, Ronald J. ; Klein, Jason C. ; Shendure, Jay

Nature, Sept 4, 2014, Vol.513(7516), p.120(16) [Peer Reviewed Journal]

Full text available

View all versions
4
Material Type:
Article
Add to e-Shelf

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.(Report)(Author abstract)

Chong, Jessica x ; Buckingham, Kati j ; Jhangiani, Shalini n ; Boehm, Corinne ; Sobreira, Nara ; Smith, Joshua d ; Harrell, Tanya m ; Mcmillin, Margaret j ; Wiszniewski, Wojciech ; Gambin, Tomasz ; Coban akdemir, Zeynep h ; Doheny, Kimberly ; Scott, Alan f ; Avramopoulos, Dimitri ; Chakravarti, Aravinda ; Hoover-Fong, Julie ; Mathews, Debra ; Witmer, P. dane ; Ling, Hua ; Hetrick, Kurt ; Watkins, Lee ; Patterson, Karynne e ; Reinier, Frederic ; Blue, Elizabeth ; Muzny, Donna ; Kircher, Martin ; Bilguvar, Kaya ; López-Giráldez, Francesc ; Sutton, V. reid ; Tabor, Holly k ; Leal, Suzanne m ; Gunel, Murat ; Mane, Shrikant ; Gibbs, Richard a ; Boerwinkle, Eric ; Hamosh, Ada ; Shendure, Jay ; Lupski, James r ; Lifton, Richard p ; Valle, David ; Nickerson, Deborah a ; Bamshad, Michael j;

American Journal of Human Genetics, August 6, 2015, Vol.97(2), p.199(17) [Peer Reviewed Journal]

Full text available

View all versions
5
Material Type:
Article
Add to e-Shelf

The cis-regulatory dynamics of embryonic development at single-cell resolution.(Report)

Cusanovich, Darren A. ; Reddington, James P. ; Garfield, David A. ; Daza, Riza M. ; Aghamirzaie, Delasa ; Marco-Ferreres, Raquel ; Pliner, Hannah A. ; Christiansen, Lena ; Qiu, Xiaojie ; Steemers, Frank J. ; Trapnell, Cole ; Shendure, Jay ; Furlong, Eileen E. M.

Nature, March 22, 2018, Vol.555(7697), p.538 [Peer Reviewed Journal]

Full text available

View all versions
6
Material Type:
Article
Add to e-Shelf

A general framework for estimating the relative pathogenicity of human genetic variants.(TECHNICAL REPORTS)(Report)

Kircher, Martin ; Witten, Daniela M. ; Jain, Preti ; O'Roak, Brian J. ; Cooper, Gregory M. ; Shendure, Jay

Nature Genetics, 2014, Vol.46(3), p.310(8) [Peer Reviewed Journal]

Full text available

View all versions
7
Material Type:
Article
Add to e-Shelf

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms.(Report)(Author abstract)

Guo, Dong-Chuan ; Gong, Limin ; Regalado, Ellen S ; Santos-Cortez, Regie L ; Zhao, Ren ; Cai, Bo ; Veeraraghavan, Sudha ; Prakash, Siddharth K ; Johnson, Ralph J ; Muilenburg, Ann ; Willing, Marcia ; Jondeau, Guillaume ; Boileau, Catherine ; Pannu, Hariyadarshi ; Moran, Rocio ; Debacker, Julie ; Bamshad, Michael J ; Shendure, Jay ; Nickerson, Deborah A ; Leal, Suzanne M ; Raman, C S ; Swindell, Eric C ; Milewicz, Dianna M;

American Journal of Human Genetics, Jan 8, 2015, Vol.96(1), p.170(8) [Peer Reviewed Journal]

Full text available

View all versions
8
Material Type:
Article
Add to e-Shelf

The expanding scope of DNA sequencing.(REVIEW)

Shendure, Jay ; Aiden, Erez Lieberman

Nature Biotechnology, 2012, Vol.30(11), p.1084(11) [Peer Reviewed Journal]

Full text available

View all versions
9
Material Type:
Article
Add to e-Shelf

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.(Report)(Author abstract)

Mcmillin, Margaret ; Beck, Anita ; Chong, Jessica ; Shively, Kathryn ; Buckingham, Kati ; Gildersleeve, Heidi ; Aracena, Mariana ; Aylsworth, Arthur ; Bitoun, Pierre ; Carey, John ; Clericuzio, Carol ; Crow, Yanick ; Curry, Cynthia ; Devriendt, Koenraad ; Everman, David ; Fryer, Alan ; Gibson, Kate ; Uzielli, Maria ; Graham, John ; Hall, Judith ; Hecht, Jacqueline ; Heidenreich, Randall ; Hurst, Jane ; Irani, Sarosh ; Krapels, Ingrid ; Leroy, Jules ; Mowat, David ; Plant, Gordon ; Robertson, Stephen ; Schorry, Elizabeth ; Scott, Richard ; Seaver, Laurie ; Sherr, Elliott ; Splitt, Miranda ; Stewart, Helen ; Stumpel, Constance ; Temel, Sehime ; Weaver, David ; Whiteford, Margo ; Williams, Marc ; Tabor, Holly ; Smith, Joshua ; Shendure, Jay ; Nickerson, Deborah ; Bamshad, Michael;

American Journal of Human Genetics, May 1, 2014, Vol.94(5), p.734(11) [Peer Reviewed Journal]

Full text available

View all versions
10
Material Type:
Article
Add to e-Shelf

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.(Report)(Author abstract)

Chong, Jessica X ; Mcmillin, Margaret J ; Shively, Kathryn M ; Beck, Anita E ; Marvin, Colby T ; Armenteros, Jose R ; Buckingham, Kati J ; Nkinsi, Naomi T ; Boyle, Evan A ; Berry, Margaret N ; Bocian, Maureen ; Foulds, Nicola ; Uzielli, Maria Luisa Giovannucci ; Haldeman-Englert, Chad ; Hennekam, Raoul C M ; Kaplan, Paige ; Kline, Antonie D ; Mercer, Catherine L ; Nowaczyk, Malgorzata J M ; Klein Wassink-Ruiter, Jolien S ; Mcpherson, Elizabeth W ; Moreno, Regina A ; Scheuerle, Angela E ; Shashi, Vandana ; Stevens, Cathy A ; Carey, John C ; Monteil, Arnaud ; Lory, Philippe ; Tabor, Holly K ; Smith, Joshua D ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J;

American Journal of Human Genetics, March 5, Vol.96(3), p.462(12) [Peer Reviewed Journal]

Full text available

View all versions

Results 1 - 10 of 53  for Great Falls College MSU

Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Creation Date 

From To
  1. Before 2009  (3)
  2. 2009 To 2010  (6)
  3. 2011 To 2012  (11)
  4. 2013 To 2015  (25)
  5. After 2015  (8)
  6. More options open sub menu

Suggested New Searches

Ignore my query and look for everything

by this author/creator:

  1. Shendure, Jay
  2. Shendure, J
  3. Nickerson, Deborah A.
  4. Bamshad, Michael
  5. Bamshad, Michael J

on this subject:

  1. Humans
  2. Biology
  3. Mutation
  4. Female
  5. Male

Searching Remote Databases, Please Wait