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American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1890 - 1896
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 01/2019, Volume 21, Issue 1, pp. 38 - 48
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene–disease and... 
PROTEIN | DE-NOVO MUTATIONS | GENES | HAPLOINSUFFICIENCY CAUSES | PATHOLOGY | INHERITANCE | INTELLECTUAL DISABILITY SYNDROME
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 139 - 148
Journal Article
by Murray, Christopher J L, Prof and Vos, Theo, Prof and Lozano, Rafael, Prof and Naghavi, Mohsen, PhD and Flaxman, Abraham D, PhD and Michaud, Catherine, MD and Ezzati, Majid, Prof and Shibuya, Kenji, Prof and Salomon, Joshua A, Prof and Abdalla, Safa, MBBS and Aboyans, Victor, Prof and Abraham, Jerry, MPH and Ackerman, Ilana, PhD and Aggarwal, Rakesh, Prof and Ahn, Stephanie Y, MPH and Ali, Mohammed K, MBChB and AlMazroa, Mohammad A, MD and Alvarado, Miriam, BA and Anderson, H Ross, Prof and Anderson, Laurie M, PhD and Andrews, Kathryn G, MPH and Atkinson, Charles, BS and Baddour, Larry M, Prof and Bahalim, Adil N, MEng and Barker-Collo, Suzanne, PhD and Barrero, Lope H, ScD and Bartels, David H, BA and Basáñez, Maria-Gloria, Prof and Baxter, Amanda, MPH and Bell, Michelle L, Prof and Benjamin, Emelia J, Prof and Bennett, Derrick, PhD and Bernabé, Eduardo, PhD and Bhalla, Kavi, PhD and Bhandari, Bishal, MSc and Bikbov, Boris, MD and Abdulhak, Aref Bin, MD and Birbeck, Gretchen, Prof and Black, James A, MPhil and Blencowe, Hannah, MBChB and Blore, Jed D, PhD and Blyth, Fiona, PhD and Bolliger, Ian, AB and Bonaventure, Audrey, MD and Boufous, Soufiane, PhD and Bourne, Rupert, Prof and Boussinesq, Michel, MD and Braithwaite, Tasanee, BMBCh and Brayne, Carol, Prof and Bridgett, Lisa, PhD and Brooker, Simon, Prof and Brooks, Peter, Prof and Brugha, Traolach S, Prof and Bryan-Hancock, Claire, BPsych and Bucello, Chiara, BPsyc and Buchbinder, Rachelle, Prof and Buckle, Geoffrey, MPH and Budke, Christine M, PhD and Burch, Michael, MD and Burney, Peter, Prof and Burstein, Roy, BA and Calabria, Bianca, BPsych and Campbell, Benjamin, BA and Canter, Charles E, Prof and Carabin, Hélène, Prof and Carapetis, Jonathan, Prof and Carmona, Loreto, MD and Cella, Claudia, PharmChemD and Charlson, Fiona, MPH and Chen, Honglei, PhD and Cheng, Andrew Tai-Ann, Prof and Chou, David, BA and Chugh, Sumeet S, Prof and Coffeng, Luc E, MD and Colan, Steven D, Prof and Colquhoun, Samantha, MPH and Colson, K Ellicott, BA and Condon, John, PhD and Connor, Myles D, PhD and Cooper, Leslie T, Prof and Corriere, Matthew, MD and Cortinovis, Monica, BiotechD and de Vaccaro, Karen Courville, MD and Couser, William, Prof and Cowie, Benjamin C, MBBS and Criqui, Michael H, Prof and Cross, Marita, PhD and Dabhadkar, Kaustubh C, MBBS and Dahiya, Manu, BDS and Dahodwala, Nabila, MD and Damsere-Derry, James, MPH and Danaei, Goodarz, MD and Davis, Adrian, Prof and Leo, Diego De, Prof and Degenhardt, Louisa, Prof and Dellavalle, Robert, MD and Delossantos, Allyne, BS and Denenberg, Julie, MA and Derrett, Sarah, PhD and Des Jarlais, Don C, PhD and ...
Lancet, The, ISSN 0140-6736, 12/2012, Volume 380, Issue 9859, pp. 2197 - 2223
Journal Article
by Vos, Theo, Prof and Flaxman, Abraham D, PhD and Naghavi, Mohsen, PhD and Lozano, Rafael, Prof and Michaud, Catherine, MD and Ezzati, Majid, Prof and Shibuya, Kenji, Prof and Salomon, Joshua A, Prof and Abdalla, Safa, MBBS and Aboyans, Victor, Prof and Abraham, Jerry, MPH and Ackerman, Ilana, PhD and Aggarwal, Rakesh, Prof and Ahn, Stephanie Y, MPH and Ali, Mohammed K, MBChB and AlMazroa, Mohammad A, MD and Alvarado, Miriam, BA and Anderson, H Ross, Prof and Anderson, Laurie M, PhD and Andrews, Kathryn G, MPH and Atkinson, Charles, BS and Baddour, Larry M, Prof and Bahalim, Adil N, MEng and Barker-Collo, Suzanne, PhD and Barrero, Lope H, ScD and Bartels, David H, BA and Basáñez, Maria-Gloria, Prof and Baxter, Amanda, MPH and Bell, Michelle L, Prof and Benjamin, Emelia J, Prof and Bennett, Derrick, PhD and Bernabé, Eduardo, PhD and Bhalla, Kavi, PhD and Bhandari, Bishal, MSc and Bikbov, Boris, Prof and Abdulhak, Aref Bin, MD and Birbeck, Gretchen, Prof and Black, James A, MPhil and Blencowe, Hannah, MBChB and Blore, Jed D, PhD and Blyth, Fiona, PhD and Bolliger, Ian, AB and Bonaventure, Audrey, MD and Boufous, Soufiane, PhD and Bourne, Rupert, Prof and Boussinesq, Michel, MD and Braithwaite, Tasanee, BMBCh and Brayne, Carol, Prof and Bridgett, Lisa, PhD and Brooker, Simon, Prof and Brooks, Peter, Prof and Brugha, Traolach S, Prof and Bryan-Hancock, Claire, BPsych and Bucello, Chiara, BPsyc and Buchbinder, Rachelle, Prof and Buckle, Geoffrey, MPH and Budke, Christine M, PhD and Burch, Michael, MD and Burney, Peter, Prof and Burstein, Roy, BA and Calabria, Bianca, BPsych and Campbell, Benjamin, BA and Canter, Charles E, Prof and Carabin, Hélène, Prof and Carapetis, Jonathan, Prof and Carmona, Loreto, MD and Cella, Claudia, PharmChemD and Charlson, Fiona, MPH and Chen, Honglei, PhD and Cheng, Andrew Tai-Ann, Prof and Chou, David, BA and Chugh, Sumeet S, Prof and Coffeng, Luc E, MD and Colan, Steven D, Prof and Colquhoun, Samantha, MPH and Colson, K Ellicott, BA and Condon, John, PhD and Connor, Myles D, PhD and Cooper, Leslie T, Prof and Corriere, Matthew, MD and Cortinovis, Monica, BiotechD and de Vaccaro, Karen Courville, MD and Couser, William, Prof and Cowie, Benjamin C, MBBS and Criqui, Michael H, Prof and Cross, Marita, PhD and Dabhadkar, Kaustubh C, MBBS and Dahiya, Manu, BDS and Dahodwala, Nabila, MD and Damsere-Derry, James, MPH and Danaei, Goodarz, MD and Davis, Adrian, Prof and De Leo, Diego, Prof and Degenhardt, Louisa, Prof and Dellavalle, Robert, MD and Delossantos, Allyne, BS and Denenberg, Julie, MA and Derrett, Sarah, PhD and Des Jarlais, Don C, PhD and Dharmaratne, Samath D, Prof and ...
Lancet, The, ISSN 0140-6736, 12/2012, Volume 380, Issue 9859, pp. 2163 - 2196
Journal Article