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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
AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2018, Volume 34, Issue S1, pp. 1 - 407
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
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska 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 Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article
1975, The Great metal mines of Wales, ISBN 095020403X, Volume no. 1, [1], 32
Book
by Cassini, Thomas A and Duncan, Laura and Rives, Lynette C and Newman, John H and Phillips, John A and Koziura, Mary E and Brault, Jennifer and Hamid, Rizwan and Cogan, Joy and Adams, Christopher and Adams, David and Alejandro, Mercedes and Allard, Patrick and Ashley, Euan and Azamian, Mashid and Bacino, Carlos and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan and Bellen, Hugo and Bernstein, Jonathan and Bick, David and Birch, Camille and Boone, Braden and Bostwick, Bret and Briere, Lauren and Brown, Donna and Brush, Matthew and Burke, Elizabeth and Burrage, Lindsay and Chao, Katherine and Chen, Shan and Clark, Gary and Cooper, Cynthia and Craigen, William and Davids, Mariska and Dayal, Jyoti and Dell'Angelica, Esteban and Dhar, Shweta and Dipple, Katrina and Donnell‐Fink, Laurel and Dorrani, Naghmeh and Dorset, Daniel and Draper, David and Dries, Annika and Eckstein, David and Emrick, Lisa and Eng, Christine and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul and Frisby, Trevor and Frost, Kate and Gahl, William and Gartner, Valerie and Godfrey, Rena and Goheen, Mitchell and Golas, Gretchen and Goldstein, David and Gordon, Mary and Gould, Sarah and Gourdine, Jean‐Philippe and Graham, Brett and Groden, Catherine and Gropman, Andrea and Hackbarth, Mary and Haendel, Melissa and Hanchard, Neil and Handley, Lori and Hardee, Isabel and Herzog, Matthew and Holm, Ingrid and Howerton, Ellen and Jacob, Howard and Jain, Mahim and Jiang, Yong‐hui and Johnston, Jean and Jones, Angela and Koehler, Alanna and Koeller, David and Kohane, Isaac and Kohler, Jennefer and Krasnewich, Donna and Krieg, Elizabeth and Krier, Joel and Kyle, Jennifer and Lalani, Seema and Latham, Lea and Latour, Yvonne and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan and Lee, Hane and Lee, Paul and Levy, Shawn and Levy, Denise and Lewis, Richard and Liebendorfer, Adam and Lincoln, Sharyn and Loscalzo, Joseph and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 06/2019, Volume 7, Issue 6, pp. e00676 - n/a
Journal Article
by Zastrow, Diane B and Kohler, Jennefer N and Bonner, Devon and Reuter, Chloe M and Fernandez, Liliana and Grove, Megan E and Fisk, Dianna G and Yang, Yaping and Eng, Christine M and Ward, Patricia A and Bick, David and Worthey, Elizabeth A and Fisher, Paul G and Ashley, Euan A and Bernstein, Jonathan A and Wheeler, Matthew T and Merker, Jason and Schelley, Susan and Enns, Gregory and Montgomery, Stephen and Zappala, Zach and Fresard, Laure and Prybol, Cameron and Taylor, Robert and McFarland, Robert and Holmes, Matthew and Thompson, Kyle and Olahova, Monika and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick 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 Bican, Anna and Bick, David P and Birch, Camille L 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 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 Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fairbrother, Laura and Ferreira, Carlos and Fieg, Elizabeth L and Fogel, Brent L 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 High, Francis and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 213 - 228
There are approximately 7,000 rare diseases affecting 25–30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for... 
rare diseases | undiagnosed diseases | genome sequencing | exome sequencing | sequencing reanalysis | DIAGNOSIS | VARIANTS | SOCIAL SCIENCES, BIOMEDICAL | STANDARDS | DISCOVERY | CLINICAL WHOLE-EXOME | MUTATION | GENETICS & HEREDITY | HEALTH POLICY & SERVICES | Rare diseases | Phenotypes | Segregation | Data processing | Genetics | Genomes | Genetic factors | Diagnosis | Undiagnosed | Genetic counselling
Journal Article