45 results for Briere,+Lauren

45 results for Briere,+Lauren

Export record to excel

File type to download

Beta version
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Lino Cardenas, Christian Lacks ; Briere, Lauren C. ; Sweetser, David A. ; Lindsay, Mark E. ; Musolino, Patricia L.
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2023-03, Vol.133 (5), p.1-3
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Smits, Daphne J. ; Schot, Rachel ; Popescu, Cristiana A. ; Dias, Kerith-Rae ; Ades, Lesley ; Briere, Lauren C. ; Sweetser, David A. ; Kushima, Itaru ; Aleksic, Branko ; Khan, Suliman ; Karageorgou, Vasiliki ; Ordonez, Natalia ; Sleutels, Frank J. G. T. ; van der Kaay, Daniëlle C. M. ; Van Mol, Christine ; Van Esch, Hilde ; Bertoli-Avella, Aida M. ; Roscioli, Tony ; Mancini, Grazia M. S.
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Human genetics, 2023-07, Vol.142 (7), p.949-964
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Schoch, Kelly ; Spillmann, Rebecca ; Tan, Queenie K.-G. ; McConkie-Rosell, Allyn ; Jiang, Yong-Hui ; Goldstein, David B. ; Adams, David R. ; Allard, Patrick ; Ashley, Euan A. ; Bacino, Carlos A. ; Beggs, Alan H. ; Birch, Camille L. ; Bonner, Devon ; Boone, Braden E. ; Brown, Donna M. ; Chen, Shan ; Coakley, Terra R. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Draper, David D. ; Dries, Annika M. ; Eckstein, David J. ; Emrick, Lisa T. ; Enns, Gregory M. ; Esteves, Cecilia ; Estwick, Tyra ; Fernandez, Liliana ; Ferreira, Carlos ; Fisher, Paul G. ; Fogel, Brent L. ; Friedman, Noah D. ; Gahl, William A. ; Goldstein, David B. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Handley, Lori H. ; Krasnewich, Donna M. ; Krier, Joel B. ; Lazar, Jozef ; Levy, Shawn E. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Majcherska, Marta M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; Martin, Martin G. ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; Might, Matthew ; Morimoto, Marie ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newberry, J. Scott ; Newman, John H. ; Nicholas, Sarah K. ; Pallais, J. Carl ; Palmer, Christina GS ; Parker, Neil H. ; Phillips, John A. ; Postlethwait, John H. ; Reuter, Chloe M. ; Sampson, Jacinda B. ; Scott, Daryl A. ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin K. ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walsh, Chris A. ; Wan, Jijun ; Wangler, Michael F. ; Ward, Patricia A. ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zhao, Chunli ; Zheng, Allison
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2019-01, Vol.21 (1), p.161-172
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Pan, Xueyang ; Alvarez, Albert N ; Ma, Mengqi ; Lu, Shenzhao ; Crawford, Michael W ; Briere, Lauren C ; Kanca, Oguz ; Yamamoto, Shinya ; Sweetser, David A ; Wilson, Jenny L ; Napier, Ruth J ; Pruneda, Jonathan N ; Bellen, Hugo J
    Publisher:England: eLife Sciences Publications Ltd
    Journal title:eLife, 2023-12, Vol.12
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; Spillmann, Rebecca ; Cope, Heidi ; McConkie-Rosell, Allyn ; Walley, Nicole ; Fernandez, Liliana ; Kohler, Jennefer N. ; Bonner, Devon ; Reuter, Chloe ; Stong, Nicholas ; Mulvihill, John J. ; Novacic, Donna ; Wolfe, Lynne ; Abdelbaki, Ayat ; Toro, Camilo ; Tifft, Cyndi ; Malicdan, May ; Gahl, William ; Liu, Pengfei ; Newman, John ; Goldstein, David B. ; Hom, Jason ; Sampson, Jacinda ; Wheeler, Matthew T. ; Cogan, Joy ; Bernstein, Jonathan A. ; Adams, David R. ; McCray, Alexa T. ; Shashi, Vandana
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Mueller, Alisa A. ; Sasaki, Takanori ; Keegan, Joshua W. ; Nguyen, Jennifer P. ; Griffith, Alec ; Horisberger, Alice M. ; Licata, Thomas ; Fieg, Elizabeth ; Cao, Ye ; Elahee, Mehreen ; Marks, Kathryne E. ; Simmons, Daimon P. ; Briere, Lauren C. ; Cobban, Laurel A. ; Pallais, J. Carl ; High, Frances A. ; Walker, Melissa A. ; Linnoila, Jenny J. ; Sparks, Jeffrey A. ; Holers, V. Michael ; Costenbader, Karen H. ; Sweetser, David A. ; Krier, Joel B. ; Loscalzo, Joseph ; Lederer, James A. ; Rao, Deepak A.
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2023-12, Vol.133 (24), p.1-3
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Lu, Jinfeng ; Toro, Camilo ; Adams, David R. ; Acosta, Maria T. ; Adam, Margaret ; Alvarez, Raquel L. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Cassini, Thomas ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Chinn, Ivan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cope, Heidi ; Corona, Rosario ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dickson, Patricia ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Falk, Marni ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Goddard, Page C. ; Godfrey, Rena A. ; Golden-Grant, Katie ; Grajewski, Alana ; Hadley, Don ; Hahn, Sihoun ; Halley, Meghan C. ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, Martha
    Publisher:England: BioMed Central Ltd
    Journal title:BMC genomics, 2024-01, Vol.25 (1), p.115-22, Article 115
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco-Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R. F. ; van Essen, Antonie J. ; Oufadem, Myriam ; Vigeland, Magnus D. ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton-Smith, Jill ; Innis, Jeffrey W. ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K. ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M. ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M. ; Heeley, Jennifer ; Briere, Lauren C. ; High, Frances A. ; Sweetser, David A. ; Walker, Melissa A. ; Keegan, Catherine E. ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S. ; Earl, Dawn L. ; Siu, Victoria M. ; Reesor, Emma ; Yao, Tony ; Hegele, Robert A. ; Vaske, Olena M. ; Rego, Shannon ; Shapiro, Kevin A. ; Wong, Brian ; Gambello, Michael J. ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O’Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y. ; Christodoulou, John ; White, Susan M. ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T. ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher T.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-07, Vol.22 (7), p.1215-1226
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna ; Ego, Braeden K. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Alvarez, Raquel L. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Cassini, Thomas ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Corona, Rosario ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Falk, Marni ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Goddard, Page C. ; Godfrey, Rena A. ; Golden-Grant, Katie ; Grajewski, Alana ; Hadley, Don ; Hahn, Sihoun ; Halley, Meghan C. ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M.
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.73-10, Article 73
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Agrawal, Pankaj B. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonnenmann, Carsten ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Draper, David D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Falk, Marni ; Fernandez, Liliana ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Godfrey, Rena A. ; Golden-Grant, Katie ; Goldrich, Madison P. ; Goldstein, David B. ; Grajewski, Alana ; Groden, Catherine A. ; Gutierrez, Irma ; Hahn, Sihoun ; Hamid, Rizwan
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-8, Article 6
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Holt, James M. ; Wilk, Brandon ; Birch, Camille L. ; Brown, Donna M. ; Gajapathy, Manavalan ; Moss, Alexander C. ; Sosonkina, Nadiya ; Wilk, Melissa A. ; Anderson, Julie A. ; Harris, Jeremy M. ; Kelly, Jacob M. ; Shaterferdosian, Fariba ; Uno-Antonison, Angelina E. ; Weborg, Arthur ; Worthey, Elizabeth A.
    Publisher:England: BioMed Central Ltd
    Journal title:BMC bioinformatics, 2019-10, Vol.20 (1), p.496-10, Article 496
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rossetti, Linda Z. ; Bekheirnia, Mir Reza ; Lewis, Andrea M. ; Mefford, Heather C. ; Golden‐Grant, Katie ; Tarczy‐Hornoch, Kristina ; Briere, Lauren C. ; Sweetser, David A. ; Walker, Melissa A. ; Kravets, Elijah ; Stevenson, David A. ; Bruenner, Georgette ; Sebastian, Jessica ; Knapo, Julia ; Rosenfeld, Jill A. ; Marcogliese, Paul C. ; Wangler, Michael F.
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1542-n/a
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Fitzsimmons, Lane ; Acosta, Maria T. ; Adams, David R. ; Afzali, Ben ; Al-Beshri, Ali ; Allenspach, Eric ; Allworth, Aimee ; Alvarez, Raquel L. ; Alvey, Justin ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Baldwin, Erin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bellen, Hugo J. ; Bennett, Jimmy ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonner, Devon ; Borja, Nicholas ; Botto, Lorenzo ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Callaway, Kaitlin ; Carey, John ; Carvalho, George ; Cassini, Thomas ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Chinn, Ivan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Corner, Brian ; Corona, Rosario I. ; Craigen, William J. ; Crouse, Andrew B. ; Cuddapah, Vishnu ; D’Souza, Precilla ; Dai, Hongzheng ; Darr, Kahlen ; Dasari, Surendra ; Davis, Joie ; Delgado, Margaret ; Dell’Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Douglas, Jessica ; Douine, Emilie D. ; Earl, Dawn ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Ezell, Kimberly ; Fieg, Elizabeth L. ; Fisher, Paul G. ; Fogel, Brent L. ; Fu, Jiayu ; Gahl, William A. ; Ganetzky, Rebecca ; Glanton, Emily ; Glass, Ian ; Goddard, Page C. ; Gonzalez, Joanna M. ; Gropman, Andrea ; Halley, Meghan C. ; Hamid, Rizwan ; Hanchard, Neal ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, Martha ; Huang, Alden ; Huang, Yan
    Publisher:England: BioMed Central Ltd
    Journal title:BioData mining, 2025-01, Vol.18 (1), p.6-16, Article 6
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Palmer, Christina G. S. ; McConkie-Rosell, Allyn ; Holm, Ingrid A. ; LeBlanc, Kimberly ; Sinsheimer, Janet S. ; Briere, Lauren C. ; Dorrani, Naghmeh ; Herzog, Matthew R. ; Lincoln, Sharyn ; Schoch, Kelly ; Spillmann, Rebecca C. ; Brokamp, Elly
    Publisher:New York: Springer US
    Journal title:Journal of genetic counseling, 2018-10, Vol.27 (5), p.1087-1101
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour ; Davids, Mariska ; Sathiyaseelan, Paalini ; Macnamara, Ellen F. ; Lange, Jennifer ; Lehman, Anna ; Zerfas, Patricia M. ; Murphy, Jennifer L. ; Acosta, Maria T. ; Wang, Camille ; Alderman, Emily ; Reichert, Sara ; Thurm, Audrey ; Adams, David R. ; Introne, Wendy J. ; Gorski, Sharon M. ; Boerkoel, Cornelius F. ; Gahl, William A. ; Tifft, Cynthia J. ; Malicdan, May Christine V.
    Publisher:London: Nature Publishing Group UK
    Journal title:Npj genomic medicine, 2023-02, Vol.8 (1), p.4-16, Article 4
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rebelo, Adriana P. ; Jeanne, Médéric ; Danzi, Matt C. ; Tekin, Mustafa ; Acosta, Maria T. ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Butte, Manish J. ; Byrd, William E. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corner, Brian ; Dai, Hongzheng ; Davis, Joie ; Delgado, Margaret ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Fisher, Paul G. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Izumi, Kosuke ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Ketkar, Shamika ; Kohler, Jennefer N. ; Kravets, Elijah ; Lalani, Seema R. ; Latchman, Kumarie ; LeBlanc, Kimberly ; Lewis, Richard A. ; Liu, Pengfei ; Loo, Sandra K. ; MacRae, Calum A. ; Maghiro, AudreyStephannie C. ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McConkie‐Rosell, Allyn ; Morava, Eva ; Moretti, Paolo ; Morimoto, Marie ; Neumann, Serena ; Novacic, Donna ; Oglesbee, Devin ; Papp, Jeanette C. ; Petcharet, Leoyklang ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Carson A. ; Smith, Kevin S. ; Solomon, Ben ; Stergachis, Andrew ; Sullivan, Kathleen ; Tabor, Holly K. ; Tan, Queenie K.‐G. ; Thorson, Willa ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wenger, Tara ; Westerfield, Monte ; Worley, Kim
    Publisher:United States: John Wiley and Sons Inc
    Journal title:Annals of clinical and translational neurology, 2024-04, Vol.11 (4), p.1075-1079
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Geng, Linda N ; Kohler, Jennefer N ; Levonian, Peter ; Bernstein, Jonathan A ; Ford, James M ; Ahuja, Neera ; Witteles, Ronald ; Hom, Jason ; Wheeler, Matthew
    Publisher:England: Oxford University Press
    Journal title:Postgraduate medical journal, 2019-10, Vol.95 (1128), p.569-572
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Haghighi, Alireza ; Krier, Joel B. ; Toth-Petroczy, Agnes ; Cassa, Christopher A. ; Frank, Natasha Y. ; Carmichael, Nikkola ; Fieg, Elizabeth ; Bjonnes, Andrew ; Mohanty, Anwoy ; Briere, Lauren C. ; Lincoln, Sharyn ; Lucia, Stephanie ; Gupta, Vandana A. ; Söylemez, Onuralp ; Sutti, Sheila ; Kooshesh, Kameron ; Qiu, Haiyan ; Fay, Christopher J. ; Perroni, Victoria ; Valerius, Jamie ; Hanna, Meredith ; Frank, Alexander ; Ouahed, Jodie ; Snapper, Scott B. ; Pantazi, Angeliki ; Chopra, Sameer S. ; Leshchiner, Ignaty ; Stitziel, Nathan O. ; Feldweg, Anna ; Mannstadt, Michael ; Loscalzo, Joseph ; Sweetser, David A. ; Liao, Eric ; Stoler, Joan M. ; Nowak, Catherine B. ; Sanchez-Lara, Pedro A. ; Klein, Ophir D. ; Perry, Hazel ; Patsopoulos, Nikolaos A. ; Raychaudhuri, Soumya ; Goessling, Wolfram ; Green, Robert C. ; Seidman, Christine E. ; MacRae, Calum A. ; Sunyaev, Shamil R. ; Maas, Richard L. ; Vuzman, Dana
    Publisher:London: Nature Publishing Group UK
    Journal title:Npj genomic medicine, 2018-08, Vol.3 (1), p.21-10, Article 21
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Kyle, Jennifer E. ; Stratton, Kelly G. ; Zink, Erika M. ; Kim, Young-Mo ; Bloodsworth, Kent J. ; Monroe, Matthew E. ; Waters, Katrina M. ; Webb-Robertson, Bobbie-Jo M. ; Koeller, David M. ; Metz, Thomas O.
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific data, 2021-04, Vol.8 (1), p.114-114, Article 114
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cardenas, Christian Lacks Lino ; Briere, Lauren C ; Sweetser, David A ; Lindsay, Mark E ; Musolino, Patricia L
    Publisher:American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2023-03, Vol.133 (5)
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 1 to 20 of 45 results