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