Journal of Medical Genetics Journal

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Use of dexamethasone in acute rhabdomyolysis in Lipin-1 deficiency 2022
Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q 2002
Clinical and cytogenetic study on 30 meningioma patients referred to Ghaem Hospital, North East of Iran 2001
A SATELLITED CHROMOSOME-2 1984
NEPHRO-BLASTOMA AND THE 11P- CHROMOSOME 1982
DENOVO TRANSLOCATIONS IN A SELECTED POPULATION 1981
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes. 60:1218-1223. 2023
A model for the return and referral of all clinically significant secondary findings of genomic sequencing. 60:733-739. 2023
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer. 59:727-736. 2022
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. 58:284-288. 2021
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies. 57:11-17. 2020
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis. 56:123-130. 2019
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap. 55:571-577. 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. 55:316-321. 2018
Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry. 54:742-746. 2017
GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 54:460-470. 2017
MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up. 52:A5.1-A5. 2015
MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations. 52:A9.1-A9. 2015
MG-143 Age is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation. 52:A12.3-A13. 2015
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 52:575-584. 2015
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. 52:438-445. 2015
Correction. 49:597-597. 2012
Miglustat as a therapeutic agent: prospects and caveats. 49:591-597. 2012
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 48:618-628. 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 48:375-382. 2011
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. 47:195-203. 2010
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 45:710-720. 2008
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. 43:722-728. 2006
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. 43:429-434. 2006
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. 42:350-357. 2005
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. 42:328-335. 2005
Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies. 40:91e-91. 2003
A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. 39:608-610. 2002
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. 39:31e-31. 2002
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. 38:86-89. 2001
A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?. 38:58-61. 2001
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.. 35:833-835. 1998
Prenatal diagnosis by FISH of a 22q11 deletion in two families.. 35:165-168. 1998
Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.. 9:242-244. 1972

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