Genetic Counseling

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:1. interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2. education about inheritance, testing, management, prevention, resources; 3. counseling to promote informed choices and adaptation to the risk or condition.

September 8, 2020
Open Access

Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer
Joaira BakkachMohcine Bennani Mechita
September 6, 2020
Open Access

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Familial Cancer
Simone HettmerJean-Baptiste Demoulin
September 12, 2020

Resolving misalignment interference for NGS-based clinical diagnostics

Human Genetics
Che-Yu LeeHanlin Gao
September 10, 2020
Case Report

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

American Journal of Medical Genetics. Part a
Cha Gon LeeChang-Seok Ki
September 10, 2020

Reproductive Male Partner Testing When The Female Is Identified To Be A Genetic Disease Carrier

Prenatal Diagnosis
Laurie SimoneElena Ashkinadze
September 15, 2020

Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Xinyou YuHuiping Zhang
September 16, 2020

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

European Journal of Human Genetics : EJHG
Maria Luisa Di PietroMaurizio Genuardi
September 12, 2020

Implementing innovative service delivery models in genetic counseling: a qualitative analysis of facilitators and barriers

Journal of Genetic Counseling
Ambreen KhanSamantha Greenberg
September 6, 2020
Open Access

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

European Journal of Human Genetics : EJHG
Matthias Christoph BraunischJulia Hoefele
September 13, 2020
Open Access

Prenatal diagnosis and genetic counseling of low-level trisomy 9 mosaicism with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology
Chaoyun WangYanzhi Xia
September 8, 2020
Open Access

The Importance of Autopsy in Early Neonatal Death in Portugal

Acta Médica Portuguesa
Marlene MirandaHercília Guimarães
September 11, 2020
Open Access

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals

Genomics, Proteomics & Bioinformatics
Xiaoxu YangAugust Yue Huang
September 9, 2020

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Vincenzo LupoTeresa Sevilla
September 16, 2020

Exploring empathy in genetic counseling students and new genetic counselors

Journal of Genetic Counseling
Jonica L RichardsAmy Zelenski
September 15, 2020

Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Jiao LiMinqing Li
September 18, 2020

Hirschsprung Disease - Clinical Relevance of RET Mutations

Zeitschrift für Geburtshilfe und Neonatologie
Julia Katharina WenskusKonrad Reinshagen

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