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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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 674 - 746
Journal Article
Neurology, ISSN 0028-3878, 10/2019, Volume 93, Issue 16, pp. e1535 - e1542
OBJECTIVETo better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification. METHODSThis cohort study was... 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019, Volume 21, Issue 11, pp. 2662 - 2662
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
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 in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 06/2019, Volume 21, Issue 12, pp. 2798 - 2806
Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the... 
Journal Article
Pediatrics, ISSN 0031-4005, 12/2016, Volume 138, Issue 6, p. 1
  Inverse Marcus Gunn phenomenon is a rare form of congenital facial synkinesis in which jaw movement temporarily elicits ptosis, either unilateral or... 
Congenital diseases | Genetic disorders | Movement | Muscle function | Face | Chromosomes
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 11/2018, Volume 40, Issue 11, pp. 1417 - 1423
Most prenatally identified congenital heart defects (CHDs) are the sole structural anomaly detected; however, there is a subgroup of cases where the specific... 
cardiac anomaly | Prenatal diagnosis | exome | next generation sequencing | congenital heart defect
Journal Article
EBioMedicine, ISSN 2352-3964, 11/2019, Volume 49, pp. 25 - 25
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2018, Volume 26, Issue 12, pp. 1752 - 1758
Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodegenerative disorder with a prenatal onset. Using whole-exome sequencing, we identified variants in... 
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Journal Article
Journal Article
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, ISSN 0317-1671, 05/2014, Volume 41, Issue 3, pp. 299 - 300
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
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