Clinical Genetics Journal

Overview
Identity
View All

publication venue for

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. 103:288-300. 2023
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT . 101:317-323. 2022
HeterozygousNOTCH1deletion associated with variable congenital heart defects. 99:836-841. 2021
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. 97:567-575. 2020
Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution. 96:163-168. 2019
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. 93:320-328. 2018
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 93:301-309. 2018
Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome. 92:423-429. 2017
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. 89:478-483. 2016
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. 89:275-284. 2016
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 88:34-40. 2015
Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy?. 85:138-146. 2014
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. 84:394-395. 2013
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia. 83:511-517. 2013
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation. 83:191-194. 2013
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. 79:448-458. 2011
Personalized medicine - the promised land: are we there yet?. 79:403-412. 2011
Understanding the population structure of North American patients with cystic fibrosis. 79:136-146. 2011
Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?. 77:464-473. 2010
Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families?. 77:273-279. 2010
Genetic implications and health consequences following the Chernobyl nuclear accident. 77:221-226. 2010
Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene. 75:220-224. 2009
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 71:183-186. 2007
Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study. 71:35-42. 2007
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 66:517-524. 2004
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. 64:300-309. 2003
Association of autism severity with a monoamine oxidase A functional polymorphism. 64:190-197. 2003
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. 59:375-386. 2001
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. 57:388-393. 2000
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease. 54:248-249. 1998
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. 37:355-362. 1990
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization. 37:216-220. 1990
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis. 32:235-239. 1987
Carrier detection of haemophilia A using DNA markers in families with an isolated affected male. 32:10-19. 1987
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. 24:90-96. 1983
Natural history of the organic acidurias? A call for information. 23:394-394. 1983
A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q). 17:271-274. 1980
Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers. 10:54-59. 1976
The oro-facial-digital syndrome. 8:205-212. 1975
CHROMOSOME-ABNORMALITIES IN STILLBIRTHS AND NEONATAL DEATHS 1980

has subject area