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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
by Shashi, Vandana and Pena, Loren D.M and Kim, Katherine and Burton, Barbara and Hempel, Maja and Schoch, Kelly and Walkiewicz, Magdalena and McLaughlin, Heather M and Cho, Megan and Stong, Nicholas and Hickey, Scott E and Shuss, Christine M and Bacino, A and Lee, Brendan H and Lee, Hane and Lee, Paul R and Balasubramanyam, Ashok and Burrage, Lindsay C and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Jain, Mahim and Lalani, Seema R and Lewis, Richard A and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Scott, Daryl A and Hanchard, Neil A and Alyssa, Tran A and Mercedes, Alejandro E and Mashid, Azamian S and Bellen, Hugo J and Yamamoto, Shinya and Wangler, Michael F and Westerfield, Monte and Postlethwait, John H and Eng, Christine M and Yang, Yaping and Muzny, Donna M and Ward, Patricia A and Ramoni, Rachel B and McCray, Alexa T and Kohane, Issac S and Holm, Ingrid A and Might, Matthew and Mazur, Paul and Splinter, Kimberly and Esteves, Cecilia and Jiang, Yong-hui and McConkie-Rosell, Allyn and Spillmann, Rebecca C and Sullivan, Jennifer A and Walley, Nicole M and Goldstein, David B and Beggs, Alan H and Loscalzo, Joseph and MacRae, Calum A and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Maas, Richard L and Krier, Joel B and Rodan, Lance H and Walsh, Chris A and Cooper, Cynthia M and Pallais, Juan C and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Lincoln, Sharyn A and Briere, Lauren C and Jacob, Howard J and Worthey, Elizabeth A and Lazar, Joe and Strong, Kim A and Handley, Lori H and Newberry, J. Scott and Bick, David P and Schroeder, Molly C and Brown, Donna M and Birch, Camille L and Levy, Denise J and Levy, Shawn E and Boone, Braden E and Dorset, Dan C and Jones, Angela L and Manolio, Teri A and Mulvihill, John J and Wise, Anastasia L and Dayal, Jyoti G and Eckstein, David J and Krasnewich, Donna M and Loomis, Carson R and Mamounas, Laura A and Iglesias, Brenda and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 991 - 999
Journal Article
The EMBO Journal, ISSN 0261-4189, 12/2018, Volume 37, Issue 23, p. n/a
Journal Article
by Pena, Loren D.M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Horn, Sarah Rapisardo and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S.G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Goldstein, David B and Shashi, Vandana and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Bostwick, Bret L and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lee, Brendan H and Lewis, Richard A and Azamian, Mashid S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Samson, Susan L and Scott, Daryl A and Tran, Alyssa A and Vogel, Tiphanie P and Zhang, Jing and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Pena, Loren D.M and Walley, Nicole M and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and Might, Matthew and Ramoni, Rachel B and Splinter, Kimberly and Bick, David P and Birch, Camille L and Boone, Braden E and Brown, Donna M and Dorset, Daniel C and Handley, Lori H and Jacob, Howard J and Jones, Angela L and Lazar, Jozef and Levy, Shawn E and Newberry, J. Scott and Schroeder, Molly C and ... and Undiagnosed Dis Network Members and Undiagnosed Diseases Network Members
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
Journal Article
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation | Index Medicus
Journal Article
by Shashi, Vandana and Geist, Janelle and Lee, Youngha and Yoo, Yongjin and Shin, Unbeom and Schoch, Kelly and Sullivan, Jennifer and Stong, Nicholas and Smith, Edward and Jasien, Joan and Kranz, Peter and Lee, Yoonsung and Shin, Yong Beom and Wright, Nathan T and Choi, Murim and Kontrogianni‐Konstantopoulos, Aikaterini and Acosta, Maria T and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao‐Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Friedman, Noah D and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean‐Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Frances and Holm, Ingrid A and ... and Undiagnosed Dis Network
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1115 - 1126
Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The... 
arthrogryposis | tremor | MYBPC1 | myosin binding protein‐C | myopathy | hypotonia | BINDING-PROTEIN-C | DIFFERENTIAL EXPRESSION | myosin binding protein-C | GENETICS | SLOW | GENETICS & HEREDITY | MUTATIONS | Wildlife conservation | Analysis | Myosin | Muscles | Genetic aspects | Muscle proteins | Protein binding | Musculoskeletal system | Phenotypes | Actomyosin | Tremor | Arthrogryposis | Muscle contraction | Skeletal muscle | Myopathy | Index Medicus
Journal Article