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.

July 1, 2020
Open Access

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study

JNCI Cancer Spectrum
Stefan KlekPauline Funchain
July 6, 2020

From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus

Journal of Pediatric Endocrinology & Metabolism : JPEM
Bahriye AtmisAli Anarat
July 2, 2020
Open Access

A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs

Animals : an Open Access Journal From MDPI
Johann C Detilleux
July 3, 2020
Open Access

Diagnostic yield and long-term outcome of non-ischemic sudden cardiac arrest survivors and their relatives - results from a tertiary referral center

Heart Rhythm : the Official Journal of the Heart Rhythm Society
Elisabeth Mütze JacobsenBo Gregers Winkel
July 4, 2020
Open Access

Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis)

Iranian Journal of Allergy, Asthma, and Immunology
Zahra AlizadehMohammad Reza Fazlollahi
June 26, 2020
Review
Open Access

Treatment Options for MODY Patients: A Systematic Review of Literature

Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders
Maurizio DelvecchioPaola Giordano
June 30, 2020
Preprint
Open Access

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

BioRxiv : the Preprint Server for Biology
N. Danial-FaranS. A. Shalev
July 6, 2020

Ante-natal counseling in phacomatoses

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Dana Brabbing-Goldstein, Shay Ben-Shachar
July 4, 2020

Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Yanchuan XieXiangdong Kong
June 27, 2020

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?

European Journal of Ophthalmology
Matteo PrencipeGiovanna Gabbriellini
July 4, 2020

Analysis of TWNK variant in a family affected with Perrault syndrome

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Zihui ChenJianxin Lyu
July 3, 2020

Genetic counselling in sickle cell disease: views of single young adults in Ghana

Journal of Community Genetics
Stella AppiahOsei Evans Appiah
June 28, 2020
Open Access

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence

Molecular Genetics & Genomic Medicine
Ana L SeidingerJosé A Yunes
July 1, 2020
Open Access

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

BMC Medical Genetics
Malihe MirzaeiMajid Yavarian

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