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DMM Disease Models and Mechanisms, ISSN 1754-8403, 05/2015, Volume 8, Issue 5, pp. 417 - 419
Kym Boycott is currently a Clinical Geneticist at the Children's Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute, in... 
PATHOLOGY | CELL BIOLOGY | Rare Diseases - genetics | Canada | Animals | History, 21st Century | History, 20th Century | Humans | Genetics, Medical - history | A Model for Life
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 09/2018, Volume 89, Issue Suppl 1, p. A66
Background The protocol for HD predictive testing at our Centre includes a psychosocial assessment as step 2 of a 3-step process. In future, this resource may... 
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S31 - S32
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 382 - 386
Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular... 
associations | malformations | molecular mechanisms | syndromes | IRDiRC | unsolved rare diseases | DEFECTS | MUTATION | GENETICS & HEREDITY | Consortia | Heterogeneity | Molecular modelling | Disorders | Data retrieval | Epigenetics | Mosaicism | New technology | Diagnosis
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 and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
Nature Reviews Drug Discovery, ISSN 1474-1776, 02/2018, Volume 17, Issue 3, pp. 151 - 152
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 83 - 85
An accurate diagnosis is essential for effective medical management; in the case of rare genetic disease, it also guides genetic counseling. Nevertheless,... 
MEDICINE, GENERAL & INTERNAL | DISEASE | Time Factors | Humans | Genetic disorders | Diagnosis | Patients | Health aspects | Genetics | Medical diagnosis | Genetic screening
Journal Article
Nature, ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. i - i
Dr. Boycott, Dr. Innes, and Dr. Dyment acknowledge that the image is a composite that includes figures selected from several papers in the issue. 
Journal Article
Genetics, ISSN 0016-6731, 10/2014, Volume 198, Issue 2, pp. 443 - 443
Hieter and Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases. They highlight the work of Brooks... 
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 458 - 463
For years, the genetics community has estimated the number of individual rare genetic diseases to be approximately 6,000–8,000. A commonly quoted derivation of... 
disease‐gene discovery | rare disease | Mendelian disease | unsolved | disease‐gene association | OMIM | disease-gene association | disease-gene discovery | GENETICS & HEREDITY | Genetics | Heredity | Etiology | Genetic analysis | Textbooks
Journal Article
Genetics, ISSN 0016-6731, 10/2014, Volume 198, Issue 2, pp. 443 - 445
In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and... 
DISORDERS | PROJECT | FUTURE | GENETICS | DISCOVERY | GENETICS & HEREDITY | Female | Male | Animals | Microcephaly - genetics | Ribosomal Proteins - genetics | Humans | Development and progression | Genetic disorders | Research | Ribosomal proteins | Microcephaly | Genetic research | Pathogenesis | Genomics | Deoxyribonucleic acid--DNA
Journal Article
PLoS Genetics, ISSN 1553-7390, 2016, Volume 12, Issue 1, p. e1005772
A systematic way of recording data use conditions that are based on consent permissions as found in the datasets of the main public genome archives (NCBI dbGaP... 
ONTOLOGY | DISEASE | GENETICS & HEREDITY | Genomic Library | Genome | Databases, Nucleic Acid | Health Services Research | Genetic research | Technology application | Usage | Big data | Surveys | Genomics | Studies | Datasets | Codes | Archives & records | Working groups | Consent | Funding | Information sharing | Genomes | Research
Journal Article