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Epidemiology and genetics of hypertrophic cardiomyopathy, 12/2006
Background: Hypertrophic cardiomyopathy (HCM) is a heart muscle disorder and is known to be inherited as an autosomal dominant trait. Mutations in several... 
Hypertrophic cardiomyopathy, inheritance, penetrance, heritability, relative estimates
Journal
British Journal of Haematology, ISSN 0007-1048, 09/2019, Volume 186, Issue 5, pp. e159 - e162
Journal Article
European Journal of Heart Failure, ISSN 1388-9842, 06/2019, Volume 21, Issue 6, pp. 801 - 802
Journal Article
Voprosy Onkologii, ISSN 0507-3758, 2018, Volume 64, Issue 2, pp. 234 - 241
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Brain, ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2013, Volume 15, Issue 7, pp. 565 - 574
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication... 
genome | genomic medicine | whole exome | whole genome | incidental findings | secondary findings | personalized medicine | sequencing | FUTURE | MEDICINE | RETURN | GENETICS | GENETICS & HEREDITY | Exome | Genetics, Medical | Humans | Incidental Findings | Penetrance | Patient Preference | Genome, Human | Index Medicus | whole-genome | whole-exome
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
Clinically relevant variants exhibit a wide range of penetrance. Medical practice has traditionally focused on highly penetrant variants with large effect... 
risk allele | odds ratio | low penetrance | variant interpretation | classification framework
Journal Article
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, ISSN 1341-9625, 02/2018, Volume 23, Issue 1, pp. 35 - 35
Journal Article
JOURNAL OF CLINICAL ONCOLOGY, ISSN 0732-183X, 10/2005, Volume 23, Issue 30, pp. 7491 - 7496
Purpose The purpose of this study was to estimate the extent of protection offered against breast cancer by prophylactic oophorectomy in carriers of BRCA1 or... 
PENETRANCE | SERIES | ONCOLOGY | DISEASE | ESTROGEN | RANDOMIZED CONTROLLED-TRIAL | OVARIAN-CANCER | PREVALENCE | POSTMENOPAUSAL WOMEN | MENOPAUSE | PROPHYLACTIC OOPHORECTOMY
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2018, Volume 235, Issue 11, pp. 1235 - 1241
Journal Article
Parkinsonism & related disorders, ISSN 1353-8020, 05/2019
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 128 - 131
\ Purpose: To compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.... 
copy-number variation (CNV) | COPY-NUMBER VARIANTS | INCOMPLETE PENETRANCE | SNP | GENOMIC DISORDERS | penetrance | GENETICS & HEREDITY | chromosomal microarray analysis (CMA) | SCHIZOPHRENIA | DEVELOPMENTAL DELAY | prenatal diagnosis | DELETIONS | Genetic counseling | Index Medicus
Journal Article
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2016, Volume 213, Issue 12, pp. 2527 - 2538
Journal Article
Journal of the American Statistical Association, ISSN 0162-1459, 04/2019, Volume 114, Issue 526, pp. 541 - 552
Journal Article